Variant ID: 2-21263900-G-A

NM_000384.2(APOB):c.293C>T;(p.Thr98Ile)

This variant was identified in 181 publications




Publications:


Influence of multiple apolipoprotein A-I and B genetic variations on insulin resistance and metabolic syndrome in obstructive sleep apnea.

Nutrition & Metabolism
X Li, Z Fu, H Xu, J Zou, H Zhu, Z Li, K Su, Huai, H Yi, J Guan, S Yin
Publication Date: 2020

Variant appearance in text: rs1367117
PubMed Link: 33005209
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.

Biomedicines
JM Martín-Campos, S Ruiz-Nogales, D Ibarretxe, E Ortega, E Sánchez-Pujol, M Royuela-Juncadella, À Vila, C Guerrero, A Zamora, C Soler I Ferrer, JA Arroyo, G Carreras, S Martínez-Figueroa, R Roig, N Plana, F Blanco-Vaca, Xarxa d'Unitats de Lípids I Arteriosclerosi Xula
Publication Date: 2020-09-15

Variant appearance in text: rs1367117
PubMed Link: 32942679
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Clinical Genetics
L Rieck, F Bardey, T Grenkowitz, L Bertram, J Helmuth, C Mischung, J Spranger, E Steinhagen-Thiessen, T Bobbert, U Kassner, I Demuth
Publication Date: 2020-11

Variant appearance in text: rs1367117
PubMed Link: 32770674
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel, Switzerland)
A Mickiewicz, M Futema, A Ćwiklinska, A Kuchta, M Jankowski, M Kaszubowski, M Chmara, B Wasąg, M Fijałkowski, M Jaguszewski, SE Humphries, M Gruchała
Publication Date: 2020-05-20

Variant appearance in text: rs1367117
PubMed Link: 32443900
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular Genetics & Genomic Medicine
LG Leal, C Hoggart, MR Jarvelin, KH Herzig, MJE Sternberg, A David
Publication Date: 2020-06

Variant appearance in text: rs1367117
PubMed Link: 32307928
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
V Moldovan, C Banescu, M Dobreanu
Publication Date: 2020-02

Variant appearance in text: rs1367117
PubMed Link: 32120369
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDL-C plays a causal role on T2DM: a Mendelian randomization analysis.

Aging
W Pan, W Sun, S Yang, H Zhuang, H Jiang, H Ju, D Wang, Y Han
Publication Date: 2020-02-10

Variant appearance in text: rs1367117
PubMed Link: 32040442
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1367117
PubMed Link: 31968102
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function.

Diabetes
F Casanova, AR Wood, H Yaghootkar, RN Beaumont, SE Jones, KM Gooding, K Aizawa, WD Strain, AT Hattersley, F Khan, AC Shore, TM Frayling, J Tyrrell
Publication Date: 2020-05

Variant appearance in text: rs1367117
PubMed Link: 31915152
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



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: rs1367117
PubMed Link: 31719535
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_12958_MOESM6_ESM.xlsx
  • 41467_2019_12958_MOESM7_ESM.xlsx
View BVdb publication page



Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals Of Neurology
DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani
Publication Date: 2020-01

Variant appearance in text: rs1367117
PubMed Link: 31714636
PubMed Central Link
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



Genetic risk scores to predict the prognosis of chronic heart failure patients in Chinese Han.

Journal Of Cellular And Molecular Medicine
S Li, Y Sun, S Hu, D Hu, C Li, L Xiao, Y Chen, H Li, G Cui, DW Wang
Publication Date: 2020-01

Variant appearance in text: rs1367117
PubMed Link: 31670483
PubMed Central Link
Variant Present in the following documents:
  • JCMM-24-285-s001.doc
View BVdb publication page



A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications
A Gallois, J Mefford, A Ko, A Vaysse, H Julienne, M Ala-Korpela, M Laakso, N Zaitlen, P Pajukanta, H Aschard
Publication Date: 2019-10-21

Variant appearance in text: rs1367117
PubMed Link: 31636271
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_12703_MOESM4_ESM.xlsx
  • 41467_2019_12703_MOESM3_ESM.xlsx
  • 41467_2019_12703_MOESM11_ESM.xlsx
View BVdb publication page



Bayesian multivariate reanalysis of large genetic studies identifies many new associations.

Plos Genetics
MC Turchin, M Stephens
Publication Date: 2019-10

Variant appearance in text: rs1367117
PubMed Link: 31596850
PubMed Central Link
Variant Present in the following documents:
  • pgen.1008431.s007.xls
  • pgen.1008431.s006.xls
View BVdb publication page



Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
AM Kulminski, Y Loika, A Nazarian, I Culminskaya
Publication Date: 2020-09-25

Variant appearance in text: rs1367117
PubMed Link: 31566214
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1367117
PubMed Link: 31551469
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



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: APOB: Thr98Ile; rs1367117
PubMed Link: 31551420
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_Article_12026.pdf
  • Main text
  • 41467_2019_12026_MOESM1_ESM.pdf
  • 41467_2019_12026_MOESM2_ESM.pdf
View BVdb publication page



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: rs1367117
PubMed Link: 31545794
PubMed Central Link
Variant Present in the following documents:
  • pone.0222362.s001.pdf
View BVdb publication page



Sex-specific Mendelian randomization study of genetically predicted insulin and cardiovascular events in the UK Biobank.

Communications Biology
JV Zhao, S Luo, CM Schooling
Publication Date: 2019

Variant appearance in text: rs1367117
PubMed Link: 31508506
PubMed Central Link
Variant Present in the following documents:
  • MendelianRandomization.pdf
View BVdb publication page



Tolerability and Safety of a Nutritional Supplement with Potential as Adjuvant in Colorectal Cancer Therapy: A Randomized Trial in Healthy Volunteers.

Nutrients
M Gómez de Cedrón, JM Laparra, V Loria-Kohen, S Molina, J Moreno-Rubio, JJ Montoya, C Torres, E Casado, G Reglero, A Ramírez de Molina
Publication Date: 2019-08-24

Variant appearance in text: rs1367117
PubMed Link: 31450563
PubMed Central Link
Variant Present in the following documents:
  • nutrients-11-02001-s001.pdf
View BVdb publication page



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: APOB: Thr98Ile; rs1367117
PubMed Link: 31397093
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs1367117
PubMed Link: 31367044
PubMed Central Link
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



APOB gene polymorphisms may affect the risk of minor or minimal bleeding complications in patients on warfarin maintaining therapeutic INR.

European Journal Of Human Genetics : Ejhg
J Yee, W Kim, BC Chang, JE Chung, KE Lee, HS Gwak
Publication Date: 2019-10

Variant appearance in text: APOB: 293C>T; Thr98Ile; rs1367117
PubMed Link: 31186542
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.

Plos One
E Khlebus, V Kutsenko, A Meshkov, A Ershova, A Kiseleva, A Shevtsov, N Shcherbakova, A Zharikova, V Lankin, A Tikhaze, I Chazova, E Yarovaya, O Drapkina, S Boytsov
Publication Date: 2019

Variant appearance in text: APOB: Thr98Ile; rs1367117
PubMed Link: 31150472
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2019-04-22

Variant appearance in text: rs1367117
PubMed Link: 31011892
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

American Journal Of Human Genetics
E Bahrami-Samani, Y Xing
Publication Date: 2019-03-07

Variant appearance in text: rs1367117
PubMed Link: 30827501
PubMed Central Link
Variant Present in the following documents:
  • mmc6.xlsx
View BVdb publication page



A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo
Publication Date: 2019

Variant appearance in text: rs1367117
PubMed Link: 30774981
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.

Scientific Reports
EA Vidal, TC Moyano, BI Bustos, E Pérez-Palma, C Moraga, E Riveras, A Montecinos, L Azócar, DC Soto, M Vidal, A Di Genova, K Puschel, P Nürnberg, S Buch, J Hampe, ML Allende, V Cambiazo, M González, C Hodar, M Montecino, C Muñoz-Espinoza, A Orellana, A Reyes-Jara, D Travisany, P Vizoso, M Moraga, S Eyheramendy, A Maass, GV De Ferrari, JF Miquel, RA Gutiérrez
Publication Date: 2019-02-14

Variant appearance in text: rs1367117
PubMed Link: 30765821
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1367117
PubMed Link: 30694319
PubMed Central Link
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications
TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos
Publication Date: 2019-01-22

Variant appearance in text: rs1367117
PubMed Link: 30670697
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_8008_MOESM7_ESM.xlsx
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM12_ESM.xlsx
  • 41467_2018_8008_MOESM11_ESM.xlsx
  • 41467_2018_8008_MOESM9_ESM.xlsx
  • 41467_2018_8008_MOESM8_ESM.xlsx
View BVdb publication page



Gene-Based Elevated Triglycerides and Type 2 Diabetes Mellitus Risk in the Women's Genome Health Study.

Arteriosclerosis, Thrombosis, And Vascular Biology
S Ahmad, S Mora, PM Ridker, FB Hu, DI Chasman
Publication Date: 2019-01

Variant appearance in text: rs1367117
PubMed Link: 30565958
PubMed Central Link
Variant Present in the following documents:
  • NIHMS1512616-supplement-Supplemental_Material.pdf
View BVdb publication page



Identification of Common and Rare Genetic Variation Associated With Plasma Protein Levels Using Whole-Exome Sequencing and Mass Spectrometry.

Circulation. Genomic And Precision Medicine
T Solomon, JD Lapek, SB Jensen, WW Greenwald, K Hindberg, H Matsui, N Latysheva, SK Braekken, DJ Gonzalez, KA Frazer, EN Smith, JB Hansen
Publication Date: 2018-12

Variant appearance in text: rs1367117
PubMed Link: 30562114
PubMed Central Link
Variant Present in the following documents:
  • NIHMS1512623-supplement-Data_Sets.xlsx
View BVdb publication page



Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications
E Ferkingstad, A Oddsson, S Gretarsdottir, S Benonisdottir, G Thorleifsson, AM Deaton, S Jonsson, OA Stefansson, GL Norddahl, F Zink, GA Arnadottir, B Gunnarsson, GH Halldorsson, A Helgadottir, BO Jensson, RP Kristjansson, G Sveinbjornsson, DA Sverrisson, G Masson, I Olafsson, GI Eyjolfsson, O Sigurdardottir, H Holm, I Jonsdottir, S Olafsson, T Steingrimsdottir, T Rafnar, ES Bjornsson, U Thorsteinsdottir, DF Gudbjartsson, P Sulem, K Stefansson
Publication Date: 2018-11-30

Variant appearance in text: rs1367117
PubMed Link: 30504769
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_7460_MOESM12_ESM.xlsx
View BVdb publication page



Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Ebiomedicine
JL Jin, D Sun, YX Cao, HW Zhang, YL Guo, NQ Wu, CG Zhu, Y Gao, QT Dong, G Liu, Q Dong, JJ Li
Publication Date: 2018-12

Variant appearance in text: APOB: 293C>T; rs1367117
PubMed Link: 30420299
PubMed Central Link
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
SE John, D Antony, M Eaaswarkhanth, P Hebbar, AM Channanath, D Thomas, S Devarajan, J Tuomilehto, F Al-Mulla, O Alsmadi, TA Thanaraj
Publication Date: 2018-11-08

Variant appearance in text: APOB: 293C>T; Thr98Ile; rs1367117
PubMed Link: 30409984
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
LA Lotta, ID Stewart, SJ Sharp, FR Day, S Burgess, J Luan, N Bowker, L Cai, C Li, LBL Wittemans, ND Kerrison, KT Khaw, MI McCarthy, S O'Rahilly, RA Scott, DB Savage, JRB Perry, C Langenberg, NJ Wareham
Publication Date: 2018-10-01

Variant appearance in text: rs1367117
PubMed Link: 30326043
PubMed Central Link
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.

Atherosclerosis
M Futema, M Bourbon, M Williams, SE Humphries
Publication Date: 2018-10

Variant appearance in text: rs1367117
PubMed Link: 30270085
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



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: rs1367117
PubMed Link: 30260075
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records.

Bmc Medical Genomics
NA Restrepo, SM Laper, E Farber-Eger, DC Crawford
Publication Date: 2018-09-14

Variant appearance in text: rs1367117
PubMed Link: 30255811
PubMed Central Link
Variant Present in the following documents:
  • 12920_2018_392_MOESM1_ESM.docx
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Y Zhou, R Mägi, L Milani, VM Lauschke
Publication Date: 2018-10

Variant appearance in text: APOB: T98I; rs1367117
PubMed Link: 30076208
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS Reveal Targets in Vessel Wall Pathways to Treat Coronary Artery Disease.

Frontiers In Cardiovascular Medicine
AW Turner, D Wong, CN Dreisbach, CL Miller
Publication Date: 2018

Variant appearance in text: rs1367117
PubMed Link: 29988570
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk of Neuropsychiatric Adverse Effects of Lipid-Lowering Drugs: A Mendelian Randomization Study.

The International Journal Of Neuropsychopharmacology
J Alghamdi, S Matou-Nasri, F Alghamdi, S Alghamdi, M Alfadhel, S Padmanabhan
Publication Date: 2018-12-01

Variant appearance in text: rs1367117
PubMed Link: 29986042
PubMed Central Link
Variant Present in the following documents:
  • pyy060_suppl_supplementary_tables.xlsx
View BVdb publication page



Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature Communications
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, C Seed, J Ernst, M Chaffin, J Engreitz, GM Peloso, A Manichaikul, C Yang, KA Ryan, M Fu, WC Johnson, M Tsai, M Budoff, RS Vasan, LA Cupples, JI Rotter, SS Rich, W Post, BD Mitchell, A Correa, A Metspalu, JG Wilson, V Salomaa, M Kellis, MJ Daly, BM Neale, S McCarroll, I Surakka, T Esko, A Ganna, S Ripatti, S Kathiresan, P Natarajan,
Publication Date: 2018-07-04

Variant appearance in text: rs1367117
PubMed Link: 29973585
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_4668_MOESM9_ESM.xlsx
  • 41467_2018_4668_MOESM18_ESM.xlsx
  • 41467_2018_4668_MOESM13_ESM.xlsx
  • 41467_2018_4668_MOESM10_ESM.xlsx
  • 41467_2018_4668_MOESM15_ESM.xlsx
  • 41467_2018_4668_MOESM14_ESM.xlsx
  • 41467_2018_4668_MOESM11_ESM.xlsx
  • 41467_2018_4668_MOESM12_ESM.xlsx
  • 41467_2018_4668_MOESM16_ESM.xlsx
View BVdb publication page



The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.

Molecular Metabolism
J Hebebrand, T Peters, D Schijven, M Hebebrand, C Grasemann, TW Winkler, IM Heid, J Antel, M Föcker, L Tegeler, L Brauner, RAH Adan, JJ Luykx, CU Correll, IR König, A Hinney, L Libuda
Publication Date: 2018-06

Variant appearance in text: rs1367117
PubMed Link: 29673576
PubMed Central Link
Variant Present in the following documents:
  • mmc1.xlsx
View BVdb publication page



Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Nature Genetics
R Malik, G Chauhan, M Traylor, M Sargurupremraj, Y Okada, A Mishra, L Rutten-Jacobs, AK Giese, SW van der Laan, S Gretarsdottir, CD Anderson, M Chong, HHH Adams, T Ago, P Almgren, P Amouyel, H Ay, TM Bartz, OR Benavente, S Bevan, GB Boncoraglio, RD Brown, AS Butterworth, C Carrera, CL Carty, DI Chasman, WM Chen, JW Cole, A Correa, I Cotlarciuc, C Cruchaga, J Danesh, PIW de Bakker, AL DeStefano, M den Hoed, Q Duan, ST Engelter, GJ Falcone, RF Gottesman, RP Grewal, V Gudnason, S Gustafsson, J Haessler, TB Harris, A Hassan, AS Havulinna, SR Heckbert, EG Holliday, G Howard, FC Hsu, HI Hyacinth, MA Ikram, E Ingelsson, MR Irvin, X Jian, J Jiménez-Conde, JA Johnson, JW Jukema, M Kanai, KL Keene, BM Kissela, DO Kleindorfer, C Kooperberg, M Kubo, LA Lange, CD Langefeld, C Langenberg, LJ Launer, JM Lee, R Lemmens, D Leys, CM Lewis, WY Lin, AG Lindgren, E Lorentzen, PK Magnusson, J Maguire, A Manichaikul, PF McArdle, JF Meschia, BD Mitchell, TH Mosley, MA Nalls, T Ninomiya, MJ O'Donnell, BM Psaty, SL Pulit, K Rannikmäe, AP Reiner, KM Rexrode, K Rice, SS Rich, PM Ridker, NS Rost, PM Rothwell, JI Rotter, T Rundek, RL Sacco, S Sakaue, MM Sale, V Salomaa, BR Sapkota, R Schmidt, CO Schmidt, U Schminke, P Sharma, A Slowik, CLM Sudlow, C Tanislav, T Tatlisumak, KD Taylor, VNS Thijs, G Thorleifsson, U Thorsteinsdottir, S Tiedt, S Trompet, C Tzourio, CM van Duijn, M Walters, NJ Wareham, S Wassertheil-Smoller, JG Wilson, KL Wiggins, Q Yang, S Yusuf, , , , , , JC Bis, T Pastinen, A Ruusalepp, EE Schadt, S Koplev, JLM Björkegren, V Codoni, M Civelek, NL Smith, DA Trégouët, IE Christophersen, C Roselli, SA Lubitz, PT Ellinor, ES Tai, JS Kooner, N Kato, J He, P van der Harst, P Elliott, JC Chambers, F Takeuchi, AD Johnson, , , , , , , , , , , DK Sanghera, O Melander, C Jern, D Strbian, I Fernandez-Cadenas, WT Longstreth, A Rolfs, J Hata, D Woo, J Rosand, G Pare, JC Hopewell, D Saleheen, K Stefansson, BB Worrall, SJ Kittner, S Seshadri, M Fornage, HS Markus, JMM Howson, Y Kamatani, S Debette, M Dichgans
Publication Date: 2018-04

Variant appearance in text: rs1367117
PubMed Link: 29531354
PubMed Central Link
Variant Present in the following documents:
  • NIHMS959658-supplement-Supplementary_Table_27.xlsx
View BVdb publication page



Influence of obesity-related risk factors in the aetiology of glioma.

British Journal Of Cancer
L Disney-Hogg, A Sud, PJ Law, AJ Cornish, B Kinnersley, QT Ostrom, K Labreche, JE Eckel-Passow, GN Armstrong, EB Claus, D Il'yasova, J Schildkraut, JS Barnholtz-Sloan, SH Olson, JL Bernstein, RK Lai, AJ Swerdlow, M Simon, P Hoffmann, MM Nöthen, KH Jöckel, S Chanock, P Rajaraman, C Johansen, RB Jenkins, BS Melin, MR Wrensch, M Sanson, ML Bondy, RS Houlston
Publication Date: 2018-04

Variant appearance in text: rs1367117
PubMed Link: 29531326
PubMed Central Link
Variant Present in the following documents:
  • 41416_2018_9_MOESM1_ESM.docx
  • 41416_2018_9_MOESM2_ESM.xlsx
View BVdb publication page



Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits.

Nature Communications
Y Wu, J Zeng, F Zhang, Z Zhu, T Qi, Z Zheng, LR Lloyd-Jones, RE Marioni, NG Martin, GW Montgomery, IJ Deary, NR Wray, PM Visscher, AF McRae, J Yang
Publication Date: 2018-03-02

Variant appearance in text: rs1367117
PubMed Link: 29500431
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_3371_MOESM7_ESM.xlsx
View BVdb publication page



An efficient Bayesian meta-analysis approach for studying cross-phenotype genetic associations.

Plos Genetics
A Majumdar, T Haldar, S Bhattacharya, JS Witte
Publication Date: 2018-02

Variant appearance in text: rs1367117
PubMed Link: 29432419
PubMed Central Link
Variant Present in the following documents:
  • pgen.1007139.s027.pdf
  • pgen.1007139.s026.pdf
View BVdb publication page



Visit-to-visit lipid variability: Clinical significance, effects of lipid-lowering treatment, and (pharmaco) genetics.

Journal Of Clinical Lipidology
RAJ Smit, JW Jukema, I Postmus, I Ford, PE Slagboom, BT Heijmans, S Le Cessie, S Trompet
Publication Date: 2018

Variant appearance in text: rs1367117
PubMed Link: 29422286
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.

Peerj
A Andaleon, LS Mogil, HE Wheeler
Publication Date: 2018

Variant appearance in text: rs1367117
PubMed Link: 29404214
PubMed Central Link
Variant Present in the following documents:
  • peerj-06-4314-s001.xlsx
View BVdb publication page



Interactions between Genetics and Sugar-Sweetened Beverage Consumption on Health Outcomes: A Review of Gene-Diet Interaction Studies.

Frontiers In Endocrinology
DE Haslam, NM McKeown, MA Herman, AH Lichtenstein, HS Dashti
Publication Date: 2017

Variant appearance in text: rs1367117
PubMed Link: 29375475
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Methods for meta-analysis of multiple traits using GWAS summary statistics.

Genetic Epidemiology
D Ray, M Boehnke
Publication Date: 2018-03

Variant appearance in text: rs1367117
PubMed Link: 29226385
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1367117
PubMed Link: 29084231
PubMed Central Link
Variant Present in the following documents:
  • pgen.1007079.s011.xlsx
  • pgen.1007079.s010.xlsx
View BVdb publication page



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: rs1367117
PubMed Link: 29083407
PubMed Central Link
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
  • Main text
  • NIHMS909133-supplement-1.docx
View BVdb publication page



Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
Publication Date: 2017

Variant appearance in text: APOB: T98I; rs1367117
PubMed Link: 29036232
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • pone.0186446.s002.docx
View BVdb publication page



Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study.

Diabetes
L Sobrin, YH Chong, Q Fan, A Gan, LK Stanwyck, G Kaidonis, JE Craig, J Kim, WL Liao, YC Huang, WJ Lee, YJ Hung, X Guo, Y Hai, E Ipp, S Pollack, H Hancock, A Price, A Penman, P Mitchell, G Liew, AV Smith, V Gudnason, G Tan, BEK Klein, J Kuo, X Li, MW Christiansen, BM Psaty, K Sandow, , RA Jensen, R Klein, MF Cotch, JJ Wang, Y Jia, CJ Chen, YI Chen, JI Rotter, FJ Tsai, CL Hanis, KP Burdon, TY Wong, CY Cheng
Publication Date: 2017-12

Variant appearance in text: rs1367117
PubMed Link: 28951389
PubMed Central Link
Variant Present in the following documents:
  • DB170398SupplementaryData.pdf
View BVdb publication page



APEX1 Polymorphism and Mercaptopurine-Related Early Onset Neutropenia in Pediatric Acute Lymphoblastic Leukemia.

Cancer Research And Treatment : Official Journal Of Korean Cancer Association
H Kim, H Seo, Y Park, BJ Min, ME Seo, KD Park, HY Shin, JH Kim, HJ Kang
Publication Date: 2018-07

Variant appearance in text: rs1367117
PubMed Link: 28882023
PubMed Central Link
Variant Present in the following documents:
  • crt-2017-351-suppl2.pdf
View BVdb publication page



Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data.

American Journal Of Human Genetics
Z He, B Xu, S Lee, I Ionita-Laza
Publication Date: 2017-09-07

Variant appearance in text: rs1367117
PubMed Link: 28844485
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



Evaluating the Causal Relation of ApoA-IV with Disease-Related Traits - A Bidirectional Two-sample Mendelian Randomization Study.

Scientific Reports
S Mack, S Coassin, J Vaucher, F Kronenberg, C Lamina,
Publication Date: 2017-08-18

Variant appearance in text: rs1367117
PubMed Link: 28821713
PubMed Central Link
Variant Present in the following documents:
  • 41598_2017_7213_MOESM1_ESM.pdf
View BVdb publication page



Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis
E Nikkola, A Ko, M Alvarez, RM Cantor, K Garske, E Kim, S Gee, A Rodriguez, R Muxel, N Matikainen, S Söderlund, MM Motazacker, J Borén, C Lamina, F Kronenberg, WJ Schneider, A Palotie, M Laakso, MR Taskinen, P Pajukanta
Publication Date: 2017-09

Variant appearance in text: APOB: T98I; rs1367117
PubMed Link: 28772107
PubMed Central Link
Variant Present in the following documents:
  • NIHMS896854-supplement.pdf
View BVdb publication page



GATE: an efficient procedure in study of pleiotropic genetic associations.

Bmc Genomics
W Zhang, L Yang, LL Tang, A Liu, JL Mills, Y Sun, Q Li
Publication Date: 2017-07-21

Variant appearance in text: rs1367117
PubMed Link: 28732532
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology
A Sharma, KL Sharma, A Gupta, A Yadav, A Kumar
Publication Date: 2017-06-14

Variant appearance in text: rs1367117
PubMed Link: 28652652
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1367117
PubMed Link: 28577571
PubMed Central Link
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • Main text
View BVdb publication page



Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Atherosclerosis
M Sharifi, E Higginson, S Bos, A Gallivan, D Harvey, KW Li, A Abeysekera, A Haddon, H Ashby, KE Shipman, JA Cooper, M Futema, JE Roeters van Lennep, EJG Sijbrands, M Labib, D Nair, SE Humphries
Publication Date: 2017-08

Variant appearance in text: rs1367117
PubMed Link: 28549500
PubMed Central Link
Variant Present in the following documents:
  • mmc1.docx
  • Main text
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
C Lonjou, F Damiola, M Moissonnier, G Durand, I Malakhova, V Masyakin, F Le Calvez-Kelm, E Cardis, G Byrnes, A Kesminiene, F Lesueur
Publication Date: 2017-05-12

Variant appearance in text: rs1367117
PubMed Link: 28499365
PubMed Central Link
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls
View BVdb publication page



Common and rare genetic markers of lipid variation in subjects with type 2 diabetes from the ACCORD clinical trial.

Peerj
SW Marvel, DM Rotroff, MJ Wagner, JB Buse, TM Havener, HL McLeod, AA Motsinger-Reif,
Publication Date: 2017

Variant appearance in text: rs1367117
PubMed Link: 28480134
PubMed Central Link
Variant Present in the following documents:
  • peerj-05-3187-s002.xlsx
View BVdb publication page



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: rs1367117
PubMed Link: 28456421
PubMed Central Link
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.

Human Molecular Genetics
N Zubair, M Graff, J Luis Ambite, WS Bush, G Kichaev, Y Lu, A Manichaikul, WH Sheu, D Absher, TL Assimes, SJ Bielinski, EP Bottinger, P Buzkova, LM Chuang, RH Chung, B Cochran, L Dumitrescu, O Gottesman, JW Haessler, C Haiman, G Heiss, CA Hsiung, YJ Hung, CM Hwu, JJ Juang, L Le Marchand, IT Lee, WJ Lee, LA Lin, D Lin, SY Lin, RH Mackey, LW Martin, B Pasaniuc, U Peters, I Predazzi, T Quertermous, AP Reiner, J Robinson, JI Rotter, KK Ryckman, PJ Schreiner, E Stahl, R Tao, MY Tsai, LL Waite, TD Wang, S Buyske, YD Ida Chen, I Cheng, DC Crawford, RJF Loos, SS Rich, M Fornage, KE North, C Kooperberg, CL Carty
Publication Date: 2016-12-15

Variant appearance in text: rs1367117
PubMed Link: 28426890
PubMed Central Link
Variant Present in the following documents:
  • ddw358_supp.docx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.293C>T p.Thr98Ile missense_variant 4/29 -
ENST00000399256.4 c.293C>T p.Thr98Ile missense_variant 4/17 -
NM_000384.3 c.293C>T p.Thr98Ile missense_variant 4/29 -