Publications:

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Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine

CE Vlad, LG Foia, R Popescu, I Popa, R Aanicai, D Reurean-Pintilei, V Toma, L Florea, M Kanbay, A Covic

Publication Date: 2021-03-31

Variant appearance in text: LDLR: 1773C>T; Asn591=

PubMed Link: 33807407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Plasma lipid levels and risk of primary open angle glaucoma: a genetic study using Mendelian randomization.

Bmc Ophthalmology

M Xu, S Li, J Zhu, D Luo, W Song, M Zhou

Publication Date: 2020-10-02

Variant appearance in text: rs688

PubMed Link: 33008364

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Medical Sciences (Basel, Switzerland)

A Chuluun-Erdene, O Sengeragchaa, TA Altangerel, P Sanjmyatav, B Dagdan, S Battulga, L Enkhbat, N Byambasuren, M Malchinkhuu, M Janlav

Publication Date: 2020-09-02

Variant appearance in text: LDLR: Asn591Asn; rs688

PubMed Link: 32887252

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction between Sex and LDLR rs688 Polymorphism on Hyperlipidemia among Taiwan Biobank Adult Participants.

Biomolecules

YT Liu, ON Nfor, L Wang, SY Hsu, CC Lung, DM Tantoh, MC Wu, HR Chang, YP Liaw

Publication Date: 2020-02-05

Variant appearance in text: rs688

PubMed Link: 32033407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of blood lipids and cerebral small vessel disease: role of high-density lipoprotein cholesterol.

Brain : A Journal Of Neurology

MK Georgakis, R Malik, CD Anderson, KG Parhofer, JC Hopewell, M Dichgans

Publication Date: 2020-02-01

Variant appearance in text: rs688

PubMed Link: 31968102

Variant Present in the following documents:

• Supplemental file
• Main text

View BVdb publication page

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Utility of genetic variants to predict prognosis in coronary artery disease patients receiving statin treatment.

International Journal Of Clinical And Experimental Pathology

L Zhu, X Ji, L Jiang, Y Zhu, Y Xu, Q Jiang, J Bao, J Ye, H Sheng, H Yu

Publication Date: 2017

Variant appearance in text: rs688

PubMed Link: 31966745

Variant Present in the following documents:

• Main text

View BVdb publication page

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Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.

Genes & Genomics

D Li, H Kang, S Lee, S Won

Publication Date: 2020-04

Variant appearance in text: rs688

PubMed Link: 31902109

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports

M Vacher, T Porter, VL Villemagne, L Milicic, M Peretti, C Fowler, R Martins, S Rainey-Smith, D Ames, CL Masters, CC Rowe, JD Doecke, SM Laws

Publication Date: 2019-11-19

Variant appearance in text: rs688

PubMed Link: 31745181

Variant Present in the following documents:

• 41598_2019_53604_MOESM1_ESM.xlsx
• 41598_2019_53604_MOESM2_ESM.xlsx

View BVdb publication page

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Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.

Nature Communications

R Noordam, MM Bos, H Wang, TW Winkler, AR Bentley, TO Kilpeläinen, PS de Vries, YJ Sung, K Schwander, BE Cade, A Manning, H Aschard, MR Brown, H Chen, N Franceschini, SK Musani, M Richard, D Vojinovic, S Aslibekyan, TM Bartz, L de Las Fuentes, M Feitosa, AR Horimoto, M Ilkov, M Kho, A Kraja, C Li, E Lim, Y Liu, DO Mook-Kanamori, T Rankinen, SM Tajuddin, A van der Spek, Z Wang, J Marten, V Laville, M Alver, E Evangelou, ME Graff, M He, B Kühnel, LP Lyytikäinen, P Marques-Vidal, IM Nolte, ND Palmer, R Rauramaa, XO Shu, H Snieder, S Weiss, W Wen, LR Yanek, C Adolfo, C Ballantyne, L Bielak, NR Biermasz, E Boerwinkle, N Dimou, G Eiriksdottir, C Gao, SA Gharib, DJ Gottlieb, J Haba-Rubio, TB Harris, S Heikkinen, R Heinzer, JE Hixson, G Homuth, MA Ikram, P Komulainen, JE Krieger, J Lee, J Liu, KK Lohman, AI Luik, R Mägi, LW Martin, T Meitinger, A Metspalu, Y Milaneschi, MA Nalls, J O'Connell, A Peters, P Peyser, OT Raitakari, AP Reiner, PCN Rensen, TK Rice, SS Rich, T Roenneberg, JI Rotter, PJ Schreiner, J Shikany, SS Sidney, M Sims, CM Sitlani, T Sofer, K Strauch, MA Swertz, KD Taylor, AG Uitterlinden, CM van Duijn, H Völzke, M Waldenberger, RB Wallance, KW van Dijk, C Yu, AB Zonderman, DM Becker, P Elliott, T Esko, C Gieger, HJ Grabe, TA Lakka, T Lehtimäki, KE North, BWJH Penninx, P Vollenweider, LE Wagenknecht, T Wu, YB Xiang, W Zheng, DK Arnett, C Bouchard, MK Evans, V Gudnason, S Kardia, TN Kelly, SB Kritchevsky, RJF Loos, AC Pereira, M Province, BM Psaty, C Rotimi, X Zhu, N Amin, LA Cupples, M Fornage, EF Fox, X Guo, WJ Gauderman, K Rice, C Kooperberg, PB Munroe, CT Liu, AC Morrison, DC Rao, D van Heemst, S Redline

Publication Date: 2019-11-12

Variant appearance in text: rs688

PubMed Link: 31719535

Variant Present in the following documents:

• 41467_2019_12958_MOESM7_ESM.xlsx

View BVdb publication page

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

HS AlSafar, M Al-Ali, GD Elbait, MH Al-Maini, D Ruta, B Peramo, A Henschel, GK Tay

Publication Date: 2019-10-11

Variant appearance in text: rs688

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx

View BVdb publication page

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Robust methods in Mendelian randomization via penalization of heterogeneous causal estimates.

Plos One

JMB Rees, AM Wood, F Dudbridge, S Burgess

Publication Date: 2019

Variant appearance in text: rs688

PubMed Link: 31545794

Variant Present in the following documents:

• pone.0222362.s001.pdf

View BVdb publication page

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Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics

M Codina-Sola, M Costa-Roger, D Pérez-García, R Flores, MG Palacios-Verdú, I Cusco, LA Pérez-Jurado

Publication Date: 2019-12

Variant appearance in text: rs688

PubMed Link: 31413120

Variant Present in the following documents:

• jmedgenet-2019-106080supp001.pdf

View BVdb publication page

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Reduced Proprotein convertase subtilisin/kexin 9 (PCSK9) function increases lipoteichoic acid clearance and improves outcomes in Gram positive septic shock patients.

Scientific Reports

AKK Leung, KR Genga, E Topchiy, M Cirstea, T Shimada, C Fjell, JA Russell, JH Boyd, KR Walley

Publication Date: 2019-07-22

Variant appearance in text: rs688

PubMed Link: 31332258

Variant Present in the following documents:

• 41598_2019_46745_MOESM1_ESM.docx
• Main text

View BVdb publication page

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LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.

Medical Sciences (Basel, Switzerland)

C K Jha, R Mir, I Elfaki, S Banu, SMS Chahal

Publication Date: 2019-07-15

Variant appearance in text: rs688

PubMed Link: 31311124

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports

LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,

Publication Date: 2019-06-21

Variant appearance in text: rs688

PubMed Link: 31227787

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of the Association of Omentin 1 rs2274907 A>T and rs2274908 G>A Gene Polymorphisms with Coronary Artery Disease in Indian Population: A Case Control Study.

Journal Of Personalized Medicine

CK Jha, R Mir, I Elfaki, J Javid, AT Babakr, S Banu, SMS Chahal

Publication Date: 2019-06-06

Variant appearance in text: rs688

PubMed Link: 31174318

Variant Present in the following documents:

• jpm-09-00030.pdf

View BVdb publication page

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Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama

BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano

Publication Date: 2019-01-29

Variant appearance in text: rs688

PubMed Link: 30694319

Variant Present in the following documents:

• jama-321-364-s001.pdf

View BVdb publication page

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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American Journal Of Human Genetics

M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, PB Au, J Tagoe, M McDonald, D Karlowicz, B Wolf, J Lee, Y Shen, V Okur, L Deng, CA LeDuc, J Wang, A Hanner, RG Mirmira, MH Park, TL Mastracci, WK Chung

Publication Date: 2019-02-07

Variant appearance in text: rs688

PubMed Link: 30661771

Variant Present in the following documents:

• mmc1.pdf
• mmc3.pdf
• mmc2.xlsx

View BVdb publication page

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Genetic Polymorphisms Associated with Spontaneous Intracerebral Hemorrhage.

International Journal Of Molecular Sciences

YC Chen, KH Chang, CM Chen

Publication Date: 2018-12-04

Variant appearance in text: rs688

PubMed Link: 30518145

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nutrigenetic Contributions to Dyslipidemia: A Focus on Physiologically Relevant Pathways of Lipid and Lipoprotein Metabolism.

Nutrients

BA Hannon, NA Khan, M Teran-Garcia

Publication Date: 2018-10-02

Variant appearance in text: rs688

PubMed Link: 30279335

Variant Present in the following documents:

• Main text

View BVdb publication page

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SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver

GS Steba, SM Koekkoek, MWT Tanck, JW Vanhommerig, JTM van der Meer, D Kwa, K Brinkman, M Prins, B Berkhout, G Pollakis, R Molenkamp, J Schinkel, WA Paxton,

Publication Date: 2019-03

Variant appearance in text: rs688

PubMed Link: 30260075

Variant Present in the following documents:

• Main text

View BVdb publication page

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LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.

Journal Of Cardiovascular Development And Disease

CK Jha, R Mir, N Khullar, S Banu, SMS Chahal

Publication Date: 2018-05-29

Variant appearance in text: rs688

PubMed Link: 29843469

Variant Present in the following documents:

• Main text

View BVdb publication page

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APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.

Bmc Gastroenterology

R Harada, M Kimura, Y Sato, T Taniguchi, T Tomonari, T Tanaka, H Tanaka, N Muguruma, H Shinomiya, H Honda, I Imoto, M Sogabe, T Okahisa, T Takayama

Publication Date: 2018-01-30

Variant appearance in text: rs688

PubMed Link: 29382324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm: A Meta-analysis.

Jama Cardiology

SC Harrison, MV Holmes, S Burgess, FW Asselbergs, GT Jones, AF Baas, FN van 't Hof, PIW de Bakker, JD Blankensteijn, JT Powell, A Saratzis, GJ de Borst, DI Swerdlow, Y van der Graaf, AM van Rij, DJ Carey, JR Elmore, G Tromp, H Kuivaniemi, RD Sayers, NJ Samani, MJ Bown, SE Humphries

Publication Date: 2018-01-01

Variant appearance in text: rs688

PubMed Link: 29188294

Variant Present in the following documents:

• jamacardiol-3-26-s001.pdf

View BVdb publication page

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Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics

JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke

Publication Date: 2017-10

Variant appearance in text: rs688

PubMed Link: 29084231

Variant Present in the following documents:

• pgen.1007079.s010.xlsx

View BVdb publication page

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Sex Differences in Blood HDL-c, the Total Cholesterol/HDL-c Ratio, and Palmitoleic Acid are Not Associated with Variants in Common Candidate Genes.

Lipids

SL Klingel, K Roke, B Hidalgo, S Aslibekyan, RJ Straka, P An, MA Province, PN Hopkins, DK Arnett, JM Ordovas, CQ Lai, DM Mutch

Publication Date: 2017-12

Variant appearance in text: rs688

PubMed Link: 29080057

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional variants in the low-density lipoprotein receptor gene are associated with clear cell renal cell carcinoma susceptibility.

Carcinogenesis

GM Zhang, MY Wang, YN Liu, Y Zhu, FN Wan, QY Wei, DW Ye

Publication Date: 2017-12-07

Variant appearance in text: rs688

PubMed Link: 29029037

Variant Present in the following documents:

• Supplemental file

View BVdb publication page

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Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.

Genetics And Molecular Research : Gmr

GA Molfetta, DL Zanette, JE Santos, WA Silva

Publication Date: 2017-08-31

Variant appearance in text: LDLR: N591N; rs688

PubMed Link: 28873201

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang.

Lipids In Health And Disease

YH Yue, LY Liu, L Hu, YM Li, JP Mao, XY Yang, NM Dila

Publication Date: 2017-06-17

Variant appearance in text: LDLR: Asn591Asn; rs688

PubMed Link: 28623937

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease

CS Paththinige, ND Sirisena, V Dissanayake

Publication Date: 2017-06-02

Variant appearance in text: rs688

PubMed Link: 28577571

Variant Present in the following documents:

• 12944_2017_488_MOESM1_ESM.xlsx
• Main text

View BVdb publication page

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Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration.

Ophthalmology

S Burgess, G Davey Smith

Publication Date: 2017-08

Variant appearance in text: rs688

PubMed Link: 28456421

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg

MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo

Publication Date: 2017-04

Variant appearance in text: LDLR: 1773C>T; Asn591Asn; rs688

PubMed Link: 28145427

Variant Present in the following documents:

• ejhg2016193x2.xlsx

View BVdb publication page

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PECAM-1 Leu125Val (rs688) Polymorphism and Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus.

Analytical Cellular Pathology (Amsterdam)

M Završnik, S Kariž, J Makuc, M Šeruga, I Cilenšek, D Petrovič

Publication Date: 2016

Variant appearance in text: rs688

PubMed Link: 28116228

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD.

Plos One

RH Fairoozy, J White, J Palmen, AZ Kalea, SE Humphries

Publication Date: 2016

Variant appearance in text: rs688

PubMed Link: 27973560

Variant Present in the following documents:

• Main text

View BVdb publication page

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PECAM-1 gene polymorphism (rs668) and subclinical markers of carotid atherosclerosis in patients with type 2 diabetes mellitus.

Balkan Journal Of Medical Genetics : Bjmg

D Popović, J Nikolajević Starčević, M Šantl Letonja, J Makuc, A Cokan Vujkovac, H Reschner, D Bregar, D Petrovič

Publication Date: 2016-07-01

Variant appearance in text: rs688

PubMed Link: 27785409

Variant Present in the following documents:

• Main text

View BVdb publication page

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LDLR C1725T Gene Polymorphism Frequency in Type 2 Diabetes Mellitus Patients With Dyslipidemia.

Journal Of Clinical Medicine Research

Z Eroglu, E Harman, E Vardarli, M Kayikcioglu, AT Vardarli

Publication Date: 2016-11

Variant appearance in text: rs688

PubMed Link: 27738480

Variant Present in the following documents:

• Main text

View BVdb publication page

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LEP, LDLR and APOA4 gene polymorphisms and their relationship with the risk of overweight, obesity and chronic diseases in adults of the State of Sucre, Venezuela.

Biomedica : Revista Del Instituto Nacional De Salud

G Rodríguez-Arroyo, I Paradisi, M Vívenes-Lugo, D Castro-Guerra, Á Rodríguez-Larralde

Publication Date: 2016-03-03

Variant appearance in text: rs688

PubMed Link: 27622441

Variant Present in the following documents:

• Supplemental file

View BVdb publication page

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Lipopolysaccharide Is Cleared from the Circulation by Hepatocytes via the Low Density Lipoprotein Receptor.

Plos One

E Topchiy, M Cirstea, HJ Kong, JH Boyd, Y Wang, JA Russell, KR Walley

Publication Date: 2016

Variant appearance in text: rs688

PubMed Link: 27171436

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

Molecular Genetics And Metabolism

RL Hanson, F Leti, D Tsinajinnie, S Kobes, S Puppala, JE Curran, L Almasy, DM Lehman, J Blangero, R Duggirala, JK DiStefano

Publication Date: 2016-06

Variant appearance in text: rs688

PubMed Link: 27117576

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common Variants in Cholesterol Synthesis- and Transport-Related Genes Associate with Circulating Cholesterol Responses to Intakes of Conventional Dairy Products in Healthy Individuals.

The Journal Of Nutrition

MM Abdullah, A Cyr, MC Lépine, PK Eck, P Couture, B Lamarche, PJ Jones

Publication Date: 2016-05

Variant appearance in text: rs688

PubMed Link: 27052530

Variant Present in the following documents:

• Supplemental file

View BVdb publication page

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Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease.

Oncotarget

F Bai, Y Yuan, Y Shi, Z Zhang

Publication Date: 2016-03-29

Variant appearance in text: rs688

PubMed Link: 26985771

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries

Publication Date: 2016-03

Variant appearance in text: rs688

PubMed Link: 26892515

Variant Present in the following documents:

• mmc1.doc

View BVdb publication page

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Association study of BUD13-ZNF259 gene rs964184 polymorphism and hemorrhagic stroke risk.

International Journal Of Clinical And Experimental Medicine

S Zhou, J Zhao, Z Wang, K Li, S Nie, F Gao, J Sun, X Gao, Y Huang

Publication Date: 2015

Variant appearance in text: rs688

PubMed Link: 26885234

Variant Present in the following documents:

• Main text

View BVdb publication page

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LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One

E Ochoa, M Iriondo, C Manzano, A Fullaondo, I Villar, G Ruiz-Irastorza, AM Zubiaga, A Estonba

Publication Date: 2016

Variant appearance in text: rs688

PubMed Link: 26820623

Variant Present in the following documents:

• pone.0146990.s002.doc

View BVdb publication page

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Lipids, blood pressure and kidney update 2015.

Lipids In Health And Disease

M Banach, WS Aronow, MC Serban, J Rysz, L Voroneanu, A Covic

Publication Date: 2015-12-30

Variant appearance in text: rs688

PubMed Link: 26718096

Variant Present in the following documents:

• Main text

View BVdb publication page

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Virtual Pharmacist: A Platform for Pharmacogenomics.

Plos One

R Cheng, RK Leung, Y Chen, Y Pan, Y Tong, Z Li, L Ning, XB Ling, J He

Publication Date: 2015

Variant appearance in text: rs688

PubMed Link: 26496198

Variant Present in the following documents:

• pone.0141105.s004.xls

View BVdb publication page

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Genomic Study of Cardiovascular Continuum Comorbidity.

Acta Naturae

OA Makeeva, AA Sleptsov, EV Kulish, OL Barbarash, AM Mazur, EB Prokhorchuk, NN Chekanov, VA Stepanov, VP Puzyrev

Publication Date: 2015

Variant appearance in text: rs688

PubMed Link: 26483964

Variant Present in the following documents:

• Main text

View BVdb publication page

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The nitric oxide synthase 3 G894T polymorphism associated with Alzheimer's disease risk: a meta-analysis.

Scientific Reports

S Liu, F Zeng, C Wang, Z Chen, B Zhao, K Li

Publication Date: 2015-09-04

Variant appearance in text: rs688

PubMed Link: 26337484

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics

S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson

Publication Date: 2015-09

Variant appearance in text: rs688

PubMed Link: 26327206

Variant Present in the following documents:

• pgen.1005379.s008.xlsx
• pgen.1005379.s016.docx

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

Publication Date: 2015-06-26

Variant appearance in text: rs688

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls

View BVdb publication page

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Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Nature Communications

B Bissig-Choisat, L Wang, X Legras, PK Saha, L Chen, P Bell, FP Pankowicz, MC Hill, M Barzi, CK Leyton, HE Leung, RL Kruse, RW Himes, JA Goss, JM Wilson, L Chan, WR Lagor, KD Bissig

Publication Date: 2015-06-17

Variant appearance in text: LDLR: 1773C>T; Asn591Asn; rs688

PubMed Link: 26081744

Variant Present in the following documents:

• ncomms8339-s1.pdf

View BVdb publication page

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Evidence for Clinical Implementation of Pharmacogenomics in Cardiac Drugs.

Mayo Clinic Proceedings

AL Kaufman, J Spitz, M Jacobs, M Sorrentino, S Yuen, K Danahey, D Saner, TE Klein, RB Altman, MJ Ratain, PH O'Donnell

Publication Date: 2015-06

Variant appearance in text: rs688

PubMed Link: 26046407

Variant Present in the following documents:

• Main text
• NIHMS676556-supplement-4.pdf

View BVdb publication page

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PCSK9 inhibition to reduce cardiovascular disease risk: recent findings from the biology of PCSK9.

Current Opinion In Endocrinology, Diabetes, And Obesity

H Tavori, I Giunzioni, S Fazio

Publication Date: 2015-04

Variant appearance in text: rs688

PubMed Link: 25692926

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima

Publication Date: 2014-12

Variant appearance in text: LDLR: Asn591Asn; rs688

PubMed Link: 25606447

Variant Present in the following documents:

• Main text

View BVdb publication page

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On the function and homeostasis of PCSK9: reciprocal interaction with LDLR and additional lipid effects.

Atherosclerosis

H Tavori, S Rashid, S Fazio

Publication Date: 2015-02

Variant appearance in text: rs688

PubMed Link: 25544176

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry

M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries

Publication Date: 2015-01

Variant appearance in text: rs688

PubMed Link: 25414277

Variant Present in the following documents:

• NIHMS63163-supplement-Supplementary_Data.docx

View BVdb publication page

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PCSK9 is a critical regulator of the innate immune response and septic shock outcome.

Science Translational Medicine

KR Walley, KR Thain, JA Russell, MP Reilly, NJ Meyer, JF Ferguson, JD Christie, TA Nakada, CD Fjell, SA Thair, MS Cirstea, JH Boyd

Publication Date: 2014-10-15

Variant appearance in text: rs688

PubMed Link: 25320235

Variant Present in the following documents:

• Main text
• NIHMS663192-supplement-1.pdf

View BVdb publication page

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A genome-wide pleiotropy scan for prostate cancer risk.

European Urology

OA Panagiotou, RC Travis, D Campa, SI Berndt, S Lindstrom, P Kraft, FR Schumacher, A Siddiq, SI Papatheodorou, JL Stanford, D Albanes, J Virtamo, SJ Weinstein, WR Diver, SM Gapstur, VL Stevens, H Boeing, HB Bueno-de-Mesquita, A Barricarte Gurrea, R Kaaks, KT Khaw, V Krogh, K Overvad, E Riboli, D Trichopoulos, E Giovannucci, M Stampfer, C Haiman, B Henderson, L Le Marchand, JM Gaziano, DJ Hunter, S Koutros, M Yeager, RN Hoover, , SJ Chanock, S Wacholder, TJ Key, KK Tsilidis

Publication Date: 2015-04

Variant appearance in text: rs688

PubMed Link: 25277271

Variant Present in the following documents:

• NIHMS628904-supplement-Suppl__1.doc

View BVdb publication page

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Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease.

Circulation. Cardiovascular Genetics

H Tada, HH Won, O Melander, J Yang, GM Peloso, S Kathiresan

Publication Date: 2014-10

Variant appearance in text: rs688

PubMed Link: 25170055

Variant Present in the following documents:

• NIHMS664832-supplement-supplement.doc

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

JY Kim, HS Cheong, TJ Park, HJ Shin, DW Seo, HS Na, MW Chung, HD Shin

Publication Date: 2014-07

Variant appearance in text: rs688

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical epidemiology of Alzheimer's disease: assessing sex and gender differences.

Clinical Epidemiology

MM Mielke, P Vemuri, WA Rocca

Publication Date: 2014

Variant appearance in text: rs688

PubMed Link: 24470773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics

TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam

Publication Date: 2013-12-27

Variant appearance in text: LDLR: Asn591=; rs688

PubMed Link: 24373485

Variant Present in the following documents:

• Main text

View BVdb publication page

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The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International

ER de Almeida, EM Reiche, AP Kallaur, T Flauzino, MA Watanabe

Publication Date: 2013

Variant appearance in text: rs688

PubMed Link: 24319689

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variants associated with plasma triglycerides and risk for coronary artery disease.

Nature Genetics

R Do, CJ Willer, EM Schmidt, S Sengupta, C Gao, GM Peloso, S Gustafsson, S Kanoni, A Ganna, J Chen, ML Buchkovich, S Mora, JS Beckmann, JL Bragg-Gresham, HY Chang, A Demirkan, HM Den Hertog, LA Donnelly, GB Ehret, T Esko, MF Feitosa, T Ferreira, K Fischer, P Fontanillas, RM Fraser, DF Freitag, D Gurdasani, K Heikkilä, E Hyppönen, A Isaacs, AU Jackson, A Johansson, T Johnson, M Kaakinen, J Kettunen, ME Kleber, X Li, J Luan, LP Lyytikäinen, PK Magnusson, M Mangino, E Mihailov, ME Montasser, M Müller-Nurasyid, IM Nolte, JR O'Connell, CD Palmer, M Perola, AK Petersen, S Sanna, R Saxena, SK Service, S Shah, D Shungin, C Sidore, C Song, RJ Strawbridge, I Surakka, T Tanaka, TM Teslovich, G Thorleifsson, EG Van den Herik, BF Voight, KA Volcik, LL Waite, A Wong, Y Wu, W Zhang, D Absher, G Asiki, I Barroso, LF Been, JL Bolton, LL Bonnycastle, P Brambilla, MS Burnett, G Cesana, M Dimitriou, AS Doney, A Döring, P Elliott, SE Epstein, GI Eyjolfsson, B Gigante, MO Goodarzi, H Grallert, ML Gravito, CJ Groves, G Hallmans, AL Hartikainen, C Hayward, D Hernandez, AA Hicks, H Holm, YJ Hung, T Illig, MR Jones, P Kaleebu, JJ Kastelein, KT Khaw, E Kim, N Klopp, P Komulainen, M Kumari, C Langenberg, T Lehtimäki, SY Lin, J Lindström, RJ Loos, F Mach, WL McArdle, C Meisinger, BD Mitchell, G Müller, R Nagaraja, N Narisu, TV Nieminen, RN Nsubuga, I Olafsson, KK Ong, A Palotie, T Papamarkou, C Pomilla, A Pouta, DJ Rader, MP Reilly, PM Ridker, F Rivadeneira, I Rudan, A Ruokonen, N Samani, H Scharnagl, J Seeley, K Silander, A Stančáková, K Stirrups, AJ Swift, L Tiret, AG Uitterlinden, LJ van Pelt, S Vedantam, N Wainwright, C Wijmenga, SH Wild, G Willemsen, T Wilsgaard, JF Wilson, EH Young, JH Zhao, LS Adair, D Arveiler, TL Assimes, S Bandinelli, F Bennett, M Bochud, BO Boehm, DI Boomsma, IB Borecki, SR Bornstein, P Bovet, M Burnier, H Campbell, A Chakravarti, JC Chambers, YD Chen, FS Collins, RS Cooper, J Danesh, G Dedoussis, U de Faire, AB Feranil, J Ferrières, L Ferrucci, NB Freimer, C Gieger, LC Groop, V Gudnason, U Gyllensten, A Hamsten, TB Harris, A Hingorani, JN Hirschhorn, A Hofman, GK Hovingh, CA Hsiung, SE Humphries, SC Hunt, K Hveem, C Iribarren, MR Järvelin, A Jula, M Kähönen, J Kaprio, A Kesäniemi, M Kivimaki, JS Kooner, PJ Koudstaal, RM Krauss, D Kuh, J Kuusisto, KO Kyvik, M Laakso, TA Lakka, L Lind, CM Lindgren, NG Martin, W März, MI McCarthy, CA McKenzie, P Meneton, A Metspalu, L Moilanen, AD Morris, PB Munroe, I Njølstad, NL Pedersen, C Power, PP Pramstaller, JF Price, BM Psaty, T Quertermous, R Rauramaa, D Saleheen, V Salomaa, DK Sanghera, J Saramies, PE Schwarz, WH Sheu, AR Shuldiner, A Siegbahn, TD Spector, K Stefansson, DP Strachan, BO Tayo, E Tremoli, J Tuomilehto, M Uusitupa, CM van Duijn, P Vollenweider, L Wallentin, NJ Wareham, JB Whitfield, BH Wolffenbuttel, D Altshuler, JM Ordovas, E Boerwinkle, CN Palmer, U Thorsteinsdottir, DI Chasman, JI Rotter, PW Franks, S Ripatti, LA Cupples, MS Sandhu, SS Rich, M Boehnke, P Deloukas, KL Mohlke, E Ingelsson, GR Abecasis, MJ Daly, BM Neale, S Kathiresan

Publication Date: 2013-11

Variant appearance in text: rs688

PubMed Link: 24097064

Variant Present in the following documents:

• NIHMS524704-supplement-1.pdf

View BVdb publication page

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Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

Clinical Genetics

MS Ellingson, MJ Wick, WM White, KM Raymond, AK Saenger, PN Pichurin, CA Wassif, FD Porter, D Babovic-Vuksanovic

Publication Date: 2014-05

Variant appearance in text: LDLR: 1773C>T

PubMed Link: 23790112

Variant Present in the following documents:

• Main text

View BVdb publication page

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An integrated genetic linkage map for white clover (Trifolium repens L.) with alignment to Medicago.

Bmc Genomics

AG Griffiths, BA Barrett, D Simon, AK Khan, P Bickerstaff, CB Anderson, BK Franzmayr, KR Hancock, CS Jones

Publication Date: 2013-06-10

Variant appearance in text: rs688

PubMed Link: 23758831

Variant Present in the following documents:

• 1471-2164-14-388-S1.xlsx
• 1471-2164-14-388-S3.pdf

View BVdb publication page

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Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics

Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke

Publication Date: 2013-03

Variant appearance in text: LDLR: N591N; rs688

PubMed Link: 23555291

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries

Publication Date: 2013-06-05

Variant appearance in text: rs688

PubMed Link: 23535506

Variant Present in the following documents:

• mmc1.docx

View BVdb publication page

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Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies.

Plos One

JL Bolton, MC Stewart, JF Wilson, N Anderson, JF Price

Publication Date: 2013

Variant appearance in text: rs688

PubMed Link: 23468967

Variant Present in the following documents:

• pone.0057310.s005.pdf

View BVdb publication page

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A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human Molecular Genetics

F Gao, HE Ihn, MW Medina, RM Krauss

Publication Date: 2013-04-01

Variant appearance in text: rs688

PubMed Link: 23297366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenomics in cardiovascular disorders: Steps in approaching personalized medicine in cardiovascular medicine.

Pharmacogenomics And Personalized Medicine

C Barone, SS Mousa, SA Mousa

Publication Date: 2009

Variant appearance in text: rs688

PubMed Link: 23226035

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics

FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos

Publication Date: 2012-11-02

Variant appearance in text: rs688

PubMed Link: 23063622

Variant Present in the following documents:

• mmc4.xls

View BVdb publication page

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Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.

Plos One

F Takeuchi, M Isono, T Katsuya, M Yokota, K Yamamoto, T Nabika, K Shimokawa, E Nakashima, T Sugiyama, H Rakugi, S Yamaguchi, T Ogihara, Y Yamori, N Kato

Publication Date: 2012

Variant appearance in text: rs688

PubMed Link: 23050023

Variant Present in the following documents:

• pone.0046385.s004.xls
• pone.0046385.s002.xls
• pone.0046385.s005.xls
• pone.0046385.s003.xls

View BVdb publication page

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Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One

X Liu, C Yue, Z Xu, H Shu, M Pu, H Yu, Y Shi, L Zhuang, X Xu, Z Zhang

Publication Date: 2012

Variant appearance in text: rs688

PubMed Link: 22911757

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One

K Musunuru, SP Romaine, G Lettre, JG Wilson, KA Volcik, MY Tsai, HA Taylor, PJ Schreiner, JI Rotter, SS Rich, S Redline, BM Psaty, GJ Papanicolaou, JM Ordovas, K Liu, RM Krauss, NL Glazer, SB Gabriel, M Fornage, LA Cupples, SG Buxbaum, E Boerwinkle, CM Ballantyne, S Kathiresan, DJ Rader

Publication Date: 2012

Variant appearance in text: rs688

PubMed Link: 22629316

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation of pre-mRNA alternative splicing in human populations.

Wiley Interdisciplinary Reviews. Rna

ZX Lu, P Jiang, Y Xing

Publication Date: 2012

Variant appearance in text: rs688

PubMed Link: 22095823

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel gene-environment interaction involved in endometriosis.

International Journal Of Gynaecology And Obstetrics: The Official Organ Of The International Federation Of Gynaecology And Obstetrics

CA McCarty, RL Berg, JD Welter, TE Kitchner, JW Kemnitz

Publication Date: 2012-01

Variant appearance in text: rs688

PubMed Link: 22024213

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

Plos Genetics

FE Dewey, R Chen, SP Cordero, KE Ormond, C Caleshu, KJ Karczewski, M Whirl-Carrillo, MT Wheeler, JT Dudley, JK Byrnes, OE Cornejo, JW Knowles, M Woon, K Sangkuhl, L Gong, CF Thorn, JM Hebert, E Capriotti, SP David, A Pavlovic, A West, JV Thakuria, MP Ball, AW Zaranek, HL Rehm, GM Church, JS West, CD Bustamante, M Snyder, RB Altman, TE Klein, AJ Butte, EA Ashley

Publication Date: 2011-09

Variant appearance in text: rs688

PubMed Link: 21935354

Variant Present in the following documents:

• pgen.1002280.s013.doc

View BVdb publication page

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders

Publication Date: 2011-11

Variant appearance in text: LDLR: 1773C>T; N591N; rs688

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology

P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan

Publication Date: 2011-07-26

Variant appearance in text: rs688

PubMed Link: 21860704

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.

Bmc Medical Genetics

G Antoni, T Oudot-Mellakh, A Dimitromanolakis, M Germain, W Cohen, P Wells, M Lathrop, F Gagnon, PE Morange, DA Tregouet

Publication Date: 2011-08-02

Variant appearance in text: rs688

PubMed Link: 21810271

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.

European Heart Journal

A Angelakopoulou, T Shah, R Sofat, S Shah, DJ Berry, J Cooper, J Palmen, I Tzoulaki, A Wong, BJ Jefferis, N Maniatis, F Drenos, B Gigante, R Hardy, RC Laxton, K Leander, A Motterle, IA Simpson, L Smeeth, A Thomson, C Verzilli, D Kuh, H Ireland, J Deanfield, M Caulfield, C Wallace, N Samani, PB Munroe, M Lathrop, FG Fowkes, M Marmot, PH Whincup, JC Whittaker, U de Faire, M Kivimaki, M Kumari, E Hypponen, C Power, SE Humphries, PJ Talmud, J Price, RW Morris, S Ye, JP Casas, AD Hingorani

Publication Date: 2012-02

Variant appearance in text: rs688

PubMed Link: 21804106

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil.

Genetics And Molecular Biology

MA Nakazone, MA De Marchi, MA Pinhel, CF Barros, MA Júlio, A Pinheiro, SS Arazi, JK Hotta, MH Hirata, RD Hirata, JE Dos Santos, DR Souza

Publication Date: 2009-04

Variant appearance in text: LDLR: Asn591Asn; rs688

PubMed Link: 21637672

Variant Present in the following documents:

• Main text

View BVdb publication page

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Coordinately regulated alternative splicing of genes involved in cholesterol biosynthesis and uptake.

Plos One

MW Medina, F Gao, D Naidoo, LL Rudel, RE Temel, AL McDaniel, SM Marshall, RM Krauss

Publication Date: 2011-04-29

Variant appearance in text: rs688

PubMed Link: 21559365

Variant Present in the following documents:

• Main text

View BVdb publication page

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Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

European Journal Of Clinical Investigation

AC Janssens, JP Ioannidis, S Bedrosian, P Boffetta, SM Dolan, N Dowling, I Fortier, AN Freedman, JM Grimshaw, J Gulcher, M Gwinn, MA Hlatky, H Janes, P Kraft, S Melillo, CJ O'Donnell, MJ Pencina, D Ransohoff, SD Schully, D Seminara, DM Winn, CF Wright, CM van Duijn, J Little, MJ Khoury

Publication Date: 2011-09

Variant appearance in text: rs688

PubMed Link: 21434890

Variant Present in the following documents:

• Supplemental file

View BVdb publication page

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Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

European Journal Of Epidemiology

AC Janssens, JP Ioannidis, S Bedrosian, P Boffetta, SM Dolan, N Dowling, I Fortier, AN Freedman, JM Grimshaw, J Gulcher, M Gwinn, MA Hlatky, H Janes, P Kraft, S Melillo, CJ O'Donnell, MJ Pencina, D Ransohoff, SD Schully, D Seminara, DM Winn, CF Wright, CM van Duijn, J Little, MJ Khoury

Publication Date: 2011-04

Variant appearance in text: rs688

PubMed Link: 21424820

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics

A Al-Khateeb, MK Zahri, MS Mohamed, TH Sasongko, S Ibrahim, Z Yusof, BA Zilfalil

Publication Date: 2011-03-19

Variant appearance in text: LDLR: 1773C>T; Asn591Asn; rs688

PubMed Link: 21418584

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000252444.5	c.2028C>T	p.Asn676=	synonymous_variant	12/18	-
ENST00000455727.2	c.1269C>T	p.Asn423=	synonymous_variant	10/16	-
ENST00000535915.1	c.1650C>T	p.Asn550=	synonymous_variant	11/17	-
ENST00000545707.1	c.1392C>T	p.Asn464=	synonymous_variant	11/16	-
ENST00000557933.1	c.1773C>T	p.Asn591=	synonymous_variant	12/18	-
ENST00000558013.1	c.1773C>T	p.Asn591=	synonymous_variant	12/18	-
ENST00000558518.1	c.1773C>T	p.Asn591=	synonymous_variant	12/18	-
ENST00000559340.1	c.426+714C>T	-	intron_variant,NMD_transcript_variant	-	3/4
NM_000527.5	c.1773C>T	p.Asn591=	synonymous_variant	12/18	-
NM_001195798.2	c.1773C>T	p.Asn591=	synonymous_variant	12/18	-
NM_001195799.2	c.1650C>T	p.Asn550=	synonymous_variant	11/17	-
NM_001195800.2	c.1269C>T	p.Asn423=	synonymous_variant	10/16	-
NM_001195803.2	c.1392C>T	p.Asn464=	synonymous_variant	11/16	-