Publications:

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Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society

A Garg, S Fazio, PB Duell, A Baass, C Udata, T Joh, T Riel, M Sirota, D Dettling, H Liang, PD Garzone, B Gumbiner, H Wan

Publication Date: 2020-01-01

Variant appearance in text: LDLR: A391T; rs11669576

PubMed Link: 31993549

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: rs11669576

PubMed Link: 31745181

Variant Present in the following documents:

• 41598_2019_53604_MOESM2_ESM.xlsx

View BVdb publication page

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Pharmacogenetic analyses of variations of measures of cardiovascular risk in Alzheimer's dementia.

The Indian Journal Of Medical Research

FF de Oliveira, JM Berretta, GV de Almeida Junior, SS de Almeida, ES Chen, MC Smith, PHF Bertolucci

Publication Date: 2019-09

Variant appearance in text: rs11669576

PubMed Link: 31719297

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications

R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti

Publication Date: 2019-09-24

Variant appearance in text: rs11669576

PubMed Link: 31551469

Variant Present in the following documents:

• 41467_2019_11954_MOESM13_ESM.xlsx
• 41467_2019_11954_MOESM14_ESM.xlsx

View BVdb publication page

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The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications

K Kuchenbaecker, N Telkar, T Reiker, RG Walters, K Lin, A Eriksson, D Gurdasani, A Gilly, L Southam, E Tsafantakis, M Karaleftheri, J Seeley, A Kamali, G Asiki, IY Millwood, M Holmes, H Du, Y Guo, M Kumari, G Dedoussis, L Li, Z Chen, MS Sandhu, E Zeggini,

Publication Date: 2019-09-24

Variant appearance in text: rs11669576

PubMed Link: 31551420

Variant Present in the following documents:

• 41467_2019_12026_MOESM1_ESM.pdf

View BVdb publication page

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The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients

S Hossain, MA Beydoun, MF Kuczmarski, S Tajuddin, MK Evans, AB Zonderman

Publication Date: 2019-09-11

Variant appearance in text: rs11669576

PubMed Link: 31514322

Variant Present in the following documents:

• nutrients-11-02181-s001.pdf

View BVdb publication page

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

MC Barboza-Cerda, O Barboza-Quintana, G Martínez-Aldape, R Garza-Guajardo, MA Déctor

Publication Date: 2019-09

Variant appearance in text: LDLR: 1171G>A; rs11669576

PubMed Link: 31397093

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease

C Lee, Y Cui, J Song, S Li, F Zhang, M Wu, L Li, D Hu, H Chen

Publication Date: 2019-04-11

Variant appearance in text: LDLR: 1171G>A; Ala391Thr

PubMed Link: 30971288

Variant Present in the following documents:

• Main text

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: LDLR: Ala391Thr

PubMed Link: 30694319

Variant Present in the following documents:

• jama-321-364-s001.pdf

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: rs11669576

PubMed Link: 29382324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics

X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer

Publication Date: 2017-12

Variant appearance in text: rs11669576

PubMed Link: 29083407

Variant Present in the following documents:

• NIHMS909133-supplement-2.xlsx

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: 1171G>A; Ala391Thr; rs11669576

PubMed Link: 28145427

Variant Present in the following documents:

• Main text
• ejhg2016193x1.docx
• ejhg2016193x2.xlsx
• ejhg2016193x6.pdf

View BVdb publication page

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Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer's disease dementia.

Revista Brasileira De Psiquiatria (Sao Paulo, Brazil : 1999)

FF Oliveira, ES Chen, MC Smith, PH Bertolucci

Publication Date: 2017

Variant appearance in text: rs11669576

PubMed Link: 28099631

Variant Present in the following documents:

• Main text

View BVdb publication page

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The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research

R Mehta, R Zubirán, AJ Martagón, A Vazquez-Cárdenas, Y Segura-Kato, MT Tusié-Luna, CA Aguilar-Salinas

Publication Date: 2016-12

Variant appearance in text: LDLR: 1171G>A

PubMed Link: 27777316

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Molecular Genetics & Genomic Medicine

AC Fahed, R Khalaf, R Salloum, RR Andary, R Safa, I El-Rassy, E Moubarak, ST Azar, FF Bitar, G Nemer

Publication Date: 2016-05

Variant appearance in text: LDLR: A391T

PubMed Link: 27247956

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: LDLR: Ala391Thr

PubMed Link: 26892515

Variant Present in the following documents:

• Main text
• mmc1.doc

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: LDLR: Ala391Thr; rs11669576

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: rs11669576

PubMed Link: 26718096

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low-density lipoprotein receptor genetic polymorphism in chronic hepatitis C virus Egyptian patients affects treatment response.

World Journal Of Gastroenterology

M Naga, M Amin, D Algendy, A Elbadry, M Fawzi, A Foda, S Esmat, D Sabry, L Rashed, S Gabal, M Kamal

Publication Date: 2015-10-21

Variant appearance in text: LDLR: 1171G>A

PubMed Link: 26494968

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics

I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins

Publication Date: 2015-09-28

Variant appearance in text: LDLR: Ala391Thr; rs11669576

PubMed Link: 26415676

Variant Present in the following documents:

• 12881_2015_230_MOESM1_ESM.doc

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: LDLR: Ala391Thr; rs11669576

PubMed Link: 26327206

Variant Present in the following documents:

• pgen.1005379.s008.xlsx

View BVdb publication page

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics

AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz

Publication Date: 2015-02

Variant appearance in text: LDLR: A391T

PubMed Link: 25647241

Variant Present in the following documents:

• pgen.1004855.s013.docx
• pgen.1004855.s014.docx
• pgen.1004855.s018.docx
• pgen.1004855.s019.xlsx

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: Ala391Thr; rs11669576

PubMed Link: 25606447

Variant Present in the following documents:

• Main text

View BVdb publication page

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A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.

Nature Genetics

S Kohsaka, N Shukla, N Ameur, T Ito, CK Ng, L Wang, D Lim, A Marchetti, A Viale, M Pirun, ND Socci, LX Qin, R Sciot, J Bridge, S Singer, P Meyers, LH Wexler, FG Barr, S Dogan, JA Fletcher, JS Reis-Filho, M Ladanyi

Publication Date: 2014-06

Variant appearance in text: rs11669576

PubMed Link: 24793135

Variant Present in the following documents:

• NIHMS635209-supplement-Table_3.xlsx

View BVdb publication page

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Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics

OL Holmen, H Zhang, Y Fan, DH Hovelson, EM Schmidt, W Zhou, Y Guo, J Zhang, A Langhammer, ML Løchen, SK Ganesh, L Vatten, F Skorpen, H Dalen, J Zhang, S Pennathur, J Chen, C Platou, EB Mathiesen, T Wilsgaard, I Njølstad, M Boehnke, YE Chen, GR Abecasis, K Hveem, CJ Willer

Publication Date: 2014-04

Variant appearance in text: rs11669576

PubMed Link: 24633158

Variant Present in the following documents:

• NIHMS570373-supplement-1.pdf

View BVdb publication page

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Genetic heterogeneity of hepatitis C virus cell entry receptors seems to have no influence on selection of virus variants.

Virology Journal

M Lipskoch, M Wiese, J Timm, M Roggendorf, S Viazov

Publication Date: 2014-03-14

Variant appearance in text: rs11669576

PubMed Link: 24628791

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: 1171G>A; Ala391Thr

PubMed Link: 24373485

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of gene-level tests for rare variant association.

Nature Genetics

DJ Liu, GM Peloso, X Zhan, OL Holmen, M Zawistowski, S Feng, M Nikpay, PL Auer, A Goel, H Zhang, U Peters, M Farrall, M Orho-Melander, C Kooperberg, R McPherson, H Watkins, CJ Willer, K Hveem, O Melander, S Kathiresan, GR Abecasis

Publication Date: 2014-02

Variant appearance in text: rs11669576

PubMed Link: 24336170

Variant Present in the following documents:

• NIHMS543085-supplement-1.pdf

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: rs11669576

PubMed Link: 23535506

Variant Present in the following documents:

• mmc1.docx

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: rs11669576

PubMed Link: 22911757

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics

JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia

Publication Date: 2009-04-07

Variant appearance in text: rs11669576

PubMed Link: 19351393

Variant Present in the following documents:

• 1755-8794-2-16-S1.xls

View BVdb publication page

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Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension.

Journal Of Hypertension

J Taylor, YV Sun, J Chu, TH Mosley, SL Kardia

Publication Date: 2008-12

Variant appearance in text: rs11669576

PubMed Link: 19008710

Variant Present in the following documents:

• NIHMS254027-supplement-supplemental_table.doc

View BVdb publication page

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Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.

Plos One

P Linsel-Nitschke, A Götz, J Erdmann, I Braenne, P Braund, C Hengstenberg, K Stark, M Fischer, S Schreiber, NE El Mokhtari, A Schaefer, J Schrezenmeir, J Schrezenmeier, D Rubin, A Hinney, T Reinehr, C Roth, J Ortlepp, P Hanrath, AS Hall, M Mangino, W Lieb, C Lamina, IM Heid, A Doering, C Gieger, A Peters, T Meitinger, HE Wichmann, IR König, A Ziegler, F Kronenberg, NJ Samani, H Schunkert, ,

Publication Date: 2008-08-20

Variant appearance in text: rs11669576

PubMed Link: 18714375

Variant Present in the following documents:

• pone.0002986.s003.doc

View BVdb publication page

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Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

Bmc Medical Genomics

SL Kardia, MT Greene, E Boerwinkle, ST Turner, IJ Kullo

Publication Date: 2008-05-15

Variant appearance in text: rs11669576

PubMed Link: 18482449

Variant Present in the following documents:

• 1755-8794-1-16-S1.pdf

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000252444.5	c.1426G>A	p.Ala476Thr	missense_variant	8/18	-
ENST00000455727.2	c.667G>A	p.Ala223Thr	missense_variant	6/16	-
ENST00000535915.1	c.1048G>A	p.Ala350Thr	missense_variant	7/17	-
ENST00000545707.1	c.790G>A	p.Ala264Thr	missense_variant	7/16	-
ENST00000557933.1	c.1171G>A	p.Ala391Thr	missense_variant	8/18	-
ENST00000558013.1	c.1171G>A	p.Ala391Thr	missense_variant	8/18	-
ENST00000558518.1	c.1171G>A	p.Ala391Thr	missense_variant	8/18	-
ENST00000560173.1	n.170G>A	-	non_coding_transcript_exon_variant	2/3	-
ENST00000560467.1	c.652G>A	p.Ala218Thr	missense_variant	4/6	-
NM_000527.5	c.1171G>A	p.Ala391Thr	missense_variant	8/18	-
NM_001195798.2	c.1171G>A	p.Ala391Thr	missense_variant	8/18	-
NM_001195799.2	c.1048G>A	p.Ala350Thr	missense_variant	7/17	-
NM_001195800.2	c.667G>A	p.Ala223Thr	missense_variant	6/16	-
NM_001195803.2	c.790G>A	p.Ala264Thr	missense_variant	7/16	-