Variant ID: 11-116661392-C-A

NM_001166598.1(APOA5):c.553G>T;(p.Gly185Cys)

This variant was identified in 71 publications




Publications:


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: APOA5: Gly185Cys
PubMed Link: 32887252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia.

Molecular Genetics And Metabolism Reports
W Plengpanich, S Muanpetch, S Charoen, A Kiateprungvej, W Khovidhunkit
Publication Date: 2020-06

Variant appearance in text: APOA5: Gly185Cys
PubMed Link: 32190547
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations.

Scientific Reports
PT Williams
Publication Date: 2020-03-11

Variant appearance in text: APOA5: Gly185Cys
PubMed Link: 32161301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of metabolic syndrome in Korean populations.

Plos One
SW Oh, JE Lee, E Shin, H Kwon, EK Choe, SY Choi, H Rhee, SH Choi
Publication Date: 2020

Variant appearance in text: rs2075291
PubMed Link: 31910446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.

Journal Of Cellular And Molecular Medicine
P Han, G Wei, K Cai, X Xiang, WP Deng, YB Li, S Kuang, Z Dong, T Zheng, Y Luo, J Liu, Y Guan, C Li, SK Dey, Z Liao, S Banerjee
Publication Date: 2020-01

Variant appearance in text: APOA5: 553G>T; Gly185Cys
PubMed Link: 31901151
Variant Present in the following documents:
  • Main text
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: rs2075291
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females.

Bmc Medical Genetics
S Kong, YS Cho
Publication Date: 2019-06-06

Variant appearance in text: rs2075291
PubMed Link: 31170924
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of BUD13-ZNF259-APOA5-APOA1-SIK3 cluster polymorphism in 11q23.3 and structure of APOA5 with increased plasma triglyceride levels in a Korean population.

Scientific Reports
HK Kim, MA Anwar, S Choi
Publication Date: 2019-06-05

Variant appearance in text: APOA5: G185C; rs2075291
PubMed Link: 31165758
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports
S Moon, YJ Kim, S Han, MY Hwang, DM Shin, MY Park, Y Lu, K Yoon, HM Jang, YK Kim, TJ Park, DS Song, JK Park, JE Lee, BJ Kim
Publication Date: 2019-02-04

Variant appearance in text: rs2075291
PubMed Link: 30718733
Variant Present in the following documents:
  • Main text
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: rs2075291
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM12_ESM.xlsx
  • 41467_2018_8008_MOESM7_ESM.xlsx
  • 41467_2018_8008_MOESM9_ESM.xlsx
View BVdb publication page



A genetic variant c.553G > T (rs2075291) in the apolipoprotein A5 gene is associated with altered triglycerides levels in coronary artery disease (CAD) patients with lipid lowering drug.

Bmc Cardiovascular Disorders
NM Bogari, A Aljohani, AA Amin, FA Al-Allaf, A Dannoun, MM Taher, A Elsayed, DI Rednah, O Elkhatee, M Porqueddu, F Alamanni, SAA Khogeer, A Fawzy
Publication Date: 2019-01-03

Variant appearance in text: APOA5: 553G>T; rs2075291
PubMed Link: 30606120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study.

International Journal Of Endocrinology And Metabolism
MS Daneshpour, M Hedayati, B Sedaghati-Khayat, K Guity, M Zarkesh, M Akbarzadeh, N Javanrooh, A Zadeh-Vakili, F Azizi
Publication Date: 2018-10

Variant appearance in text: rs2075291
PubMed Link: 30584432
Variant Present in the following documents:
  • Main text
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: APOA5: Gly185Cys
PubMed Link: 30420299
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page



Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine
Y Yamada, K Kato, M Oguri, H Horibe, T Fujimaki, Y Yasukochi, I Takeuchi, J Sakuma
Publication Date: 2019-01

Variant appearance in text: APOA5: G185C; rs2075291
PubMed Link: 30365130
Variant Present in the following documents:
  • Main text
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: APOA5: G185C; rs2075291
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



New insights into apolipoprotein A5 in controlling lipoprotein metabolism in obesity and the metabolic syndrome patients.

Lipids In Health And Disease
X Su, Y Kong, DQ Peng
Publication Date: 2018-07-27

Variant appearance in text: APOA5: 553G>T
PubMed Link: 30053818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.

Journal Of The American College Of Cardiology
A Saeed, EV Feofanova, B Yu, W Sun, SS Virani, V Nambi, J Coresh, CS Guild, E Boerwinkle, CM Ballantyne, RC Hoogeveen
Publication Date: 2018-07-10

Variant appearance in text: rs2075291
PubMed Link: 29976289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of four genes as novel susceptibility loci for early-onset type 2 diabetes mellitus, metabolic syndrome, or hyperuricemia.

Biomedical Reports
Y Yamada, K Kato, M Oguri, H Horibe, T Fujimaki, Y Yasukochi, I Takeuchi, J Sakuma
Publication Date: 2018-07

Variant appearance in text: APOA5: G185C; rs2075291
PubMed Link: 29930802
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of polymorphisms in APOA5 on the plasma levels of triglycerides and risk of coronary heart disease in Jilin, northeast China: a case-control study.

Bmj Open
Y You, YH Wu, Y Zhang, L Zhang, Y Song, W Bai, Y Li, Y Yu, C Kou
Publication Date: 2018-06-04

Variant appearance in text: APOA5: G185C; rs2075291
PubMed Link: 29866721
Variant Present in the following documents:
  • Main text
  • bmjopen-2017-020016.draft_revisions.pdf
  • bmjopen-2017-020016.reviewer_comments.pdf
View BVdb publication page



The SNPcurator: literature mining of enriched SNP-disease associations.

Database : The Journal Of Biological Databases And Curation
NS Tawfik, MR Spruit
Publication Date: 2018-01-01

Variant appearance in text: APOA5: G185C; rs2075291
PubMed Link: 29688369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Magnolol-mediated regulation of plasma triglyceride through affecting lipoprotein lipase activity in apolipoprotein A5 knock-in mice.

Plos One
CK Chang, XR Lin, YL Lin, WH Fang, SW Lin, SY Chang, JT Kao
Publication Date: 2018

Variant appearance in text: APOA5: 553G>T; G185C; rs2075291
PubMed Link: 29425239
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies a missense variant at APOA5 for coronary artery disease in Multi-Ethnic Cohorts from Southeast Asia.

Scientific Reports
Y Han, R Dorajoo, X Chang, L Wang, CC Khor, X Sim, CY Cheng, Y Shi, YC Tham, W Zhao, ML Chee, C Sabanayagam, ML Chee, N Tan, TY Wong, ES Tai, J Liu, DYT Goh, JM Yuan, WP Koh, RM van Dam, AF Low, MY Chan, Y Friedlander, CK Heng
Publication Date: 2017-12-20

Variant appearance in text: rs2075291
PubMed Link: 29263402
Variant Present in the following documents:
  • 41598_2017_18214_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page



Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.

Yonsei Medical Journal
CJ Lee, CY Oum, Y Lee, S Park, SM Kang, D Choi, Y Jang, JH Lee, SH Lee
Publication Date: 2018-01

Variant appearance in text: APOA5: G185C; rs2075291
PubMed Link: 29214790
Variant Present in the following documents:
  • Main text
View BVdb publication page



A promoter variant of the APOA5 gene increases atherogenic LDL levels and arterial stiffness in hypertriglyceridemic patients.

Plos One
M Kim, M Kim, HJ Yoo, E Lee, JS Chae, SH Lee, JH Lee
Publication Date: 2017

Variant appearance in text: APOA5: 553G>T; rs2075291
PubMed Link: 29211729
Variant Present in the following documents:
  • Main text
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: rs2075291
PubMed Link: 29083407
Variant Present in the following documents:
  • Main text
  • NIHMS909133-supplement-1.docx
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget
Y Yamada, J Sakuma, I Takeuchi, Y Yasukochi, K Kato, M Oguri, T Fujimaki, H Horibe, M Muramatsu, M Sawabe, Y Fujiwara, Y Taniguchi, S Obuchi, H Kawai, S Shinkai, S Mori, T Arai, M Tanaka
Publication Date: 2017-06-13

Variant appearance in text: rs2075291
PubMed Link: 28473662
Variant Present in the following documents:
  • Main text
  • oncotarget-08-38950-s002.docx
  • oncotarget-08-38950-s012.docx
  • oncotarget-08-38950-s013.docx
  • oncotarget-08-38950-s015.docx
  • oncotarget-08-38950-s016.docx
  • oncotarget-08-38950-s018.docx
  • oncotarget-08-38950-s019.docx
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: rs2075291
PubMed Link: 28426890
Variant Present in the following documents:
  • ddw358_supp.docx
View BVdb publication page



Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

Human Molecular Genetics
CN Spracklen, P Chen, YJ Kim, X Wang, H Cai, S Li, J Long, Y Wu, YX Wang, F Takeuchi, JY Wu, KJ Jung, C Hu, K Akiyama, Y Zhang, S Moon, TA Johnson, H Li, R Dorajoo, M He, ME Cannon, TS Roman, E Salfati, KH Lin, X Guo, WHH Sheu, D Absher, LS Adair, TL Assimes, T Aung, Q Cai, LC Chang, CH Chen, LH Chien, LM Chuang, SC Chuang, S Du, Q Fan, CSJ Fann, AB Feranil, Y Friedlander, P Gordon-Larsen, D Gu, L Gui, Z Guo, CK Heng, J Hixson, X Hou, CA Hsiung, Y Hu, MY Hwang, CM Hwu, M Isono, JJ Juang, CC Khor, YK Kim, WP Koh, M Kubo, IT Lee, SJ Lee, WJ Lee, KW Liang, B Lim, SH Lim, J Liu, T Nabika, WH Pan, H Peng, T Quertermous, C Sabanayagam, K Sandow, J Shi, L Sun, PC Tan, SP Tan, KD Taylor, YY Teo, SA Toh, T Tsunoda, RM van Dam, A Wang, F Wang, J Wang, WB Wei, YB Xiang, J Yao, JM Yuan, R Zhang, W Zhao, YI Chen, SS Rich, JI Rotter, TD Wang, T Wu, X Lin, BG Han, T Tanaka, YS Cho, T Katsuya, W Jia, SH Jee, YT Chen, N Kato, JB Jonas, CY Cheng, XO Shu, J He, W Zheng, TY Wong, W Huang, BJ Kim, ES Tai, KL Mohlke, X Sim
Publication Date: 2017-05-01

Variant appearance in text: APOA5: Gly185Cys; rs2075291
PubMed Link: 28334899
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of triglyceride levels with longevity and frailty: A Mendelian randomization analysis.

Scientific Reports
Z Liu, S Burgess, Z Wang, W Deng, X Chu, J Cai, Y Zhu, J Shi, X Xie, Y Wang, L Jin, X Wang
Publication Date: 2017-01-30

Variant appearance in text: APOA5: 553G>T; G185C; rs2075291
PubMed Link: 28134330
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single Nucleotide Polymorphisms in Cellular Drug Transporters Are Associated with Intolerance to Antiretroviral Therapy in Brazilian HIV-1 Positive Individuals.

Plos One
MB Arruda, F Campagnari, TB de Almeida, JC Couto-Fernandez, A Tanuri, CC Cardoso
Publication Date: 2016

Variant appearance in text: rs2075291
PubMed Link: 27648838
Variant Present in the following documents:
  • pone.0163170.s001.xlsx
View BVdb publication page



Apolipoprotein A5 fifteen years anniversary: Lessons from genetic epidemiology.

Gene
JA Hubacek
Publication Date: 2016-10-30

Variant appearance in text: rs2075291
PubMed Link: 27496343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct Patterns of Association of Variants at 11q23.3 Chromosomal Region with Coronary Artery Disease and Dyslipidemia in the Population of Andhra Pradesh, India.

Plos One
R Pranav Chand, AS Kumar, K Anuj, S Vishnupriya, B Mohan Reddy
Publication Date: 2016

Variant appearance in text: APOA5: G185C; rs2075291
PubMed Link: 27257688
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Contribution of GWAS Loci in Familial Dyslipidemias.

Plos Genetics
P Ripatti, JT Rämö, S Söderlund, I Surakka, N Matikainen, M Pirinen, P Pajukanta, AP Sarin, SK Service, PP Laurila, C Ehnholm, V Salomaa, RK Wilson, A Palotie, NB Freimer, MR Taskinen, S Ripatti
Publication Date: 2016-05

Variant appearance in text: rs2075291
PubMed Link: 27227539
Variant Present in the following documents:
  • pgen.1006078.s008.pdf
View BVdb publication page



Association of immune recovery with hyperlipidaemia and apolipoprotein gene polymorphisms following highly active antiretroviral therapy in a cohort of Chinese HIV patients.

Bmj Open
DP Chan, MP Lee, NS Wong, RK Leung, CM Naftalin, SS Lee
Publication Date: 2016-04-11

Variant appearance in text: APOA5: 553G>T; rs2075291
PubMed Link: 27067897
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.

Journal Of Medical Genetics
EM van Leeuwen, A Sabo, JC Bis, JE Huffman, A Manichaikul, AV Smith, MF Feitosa, S Demissie, PK Joshi, Q Duan, J Marten, JB van Klinken, I Surakka, IM Nolte, W Zhang, H Mbarek, R Li-Gao, S Trompet, N Verweij, E Evangelou, LP Lyytikäinen, BO Tayo, J Deelen, PJ van der Most, SW van der Laan, DE Arking, A Morrison, A Dehghan, OH Franco, A Hofman, F Rivadeneira, EJ Sijbrands, AG Uitterlinden, JC Mychaleckyj, A Campbell, LJ Hocking, S Padmanabhan, JA Brody, KM Rice, CC White, T Harris, A Isaacs, H Campbell, LA Lange, I Rudan, I Kolcic, P Navarro, T Zemunik, V Salomaa, , AS Kooner, JS Kooner, B Lehne, WR Scott, ST Tan, EJ de Geus, Y Milaneschi, BW Penninx, G Willemsen, R de Mutsert, I Ford, RT Gansevoort, MP Segura-Lepe, OT Raitakari, JS Viikari, K Nikus, T Forrester, CA McKenzie, AJ de Craen, HM de Ruijter, , G Pasterkamp, H Snieder, AJ Oldehinkel, PE Slagboom, RS Cooper, M Kähönen, T Lehtimäki, P Elliott, P van der Harst, JW Jukema, DO Mook-Kanamori, DI Boomsma, JC Chambers, M Swertz, S Ripatti, K Willems van Dijk, V Vitart, O Polasek, C Hayward, JG Wilson, JF Wilson, V Gudnason, SS Rich, BM Psaty, IB Borecki, E Boerwinkle, JI Rotter, LA Cupples, CM van Duijn
Publication Date: 2016-07

Variant appearance in text: rs2075291
PubMed Link: 27036123
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Coronary Artery Disease in Taiwan: A Cardiometabochip Study by the Taichi Consortium.

Plos One
TL Assimes, IT Lee, JM Juang, X Guo, TD Wang, ET Kim, WJ Lee, D Absher, YF Chiu, CC Hsu, LM Chuang, T Quertermous, CA Hsiung, JI Rotter, WH Sheu, YD Chen, KD Taylor
Publication Date: 2016

Variant appearance in text: rs2075291
PubMed Link: 26982883
Variant Present in the following documents:
  • pone.0138014.s004.xlsx
View BVdb publication page



Nutrigenomics: A controversy.

Applied & Translational Genomics
C Pavlidis, GP Patrinos, T Katsila
Publication Date: 2015-03

Variant appearance in text: rs2075291
PubMed Link: 26937350
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interactions of Environmental Factors and APOA1-APOC3-APOA4-APOA5 Gene Cluster Gene Polymorphisms with Metabolic Syndrome.

Plos One
Y Wu, Y Yu, T Zhao, S Wang, Y Fu, Y Qi, G Yang, W Yao, Y Su, Y Ma, J Shi, J Jiang, C Kou
Publication Date: 2016

Variant appearance in text: rs2075291
PubMed Link: 26824674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
CS Tang, H Zhang, CY Cheung, M Xu, JC Ho, W Zhou, SS Cherny, Y Zhang, O Holmen, KW Au, H Yu, L Xu, J Jia, RM Porsch, L Sun, W Xu, H Zheng, LY Wong, Y Mu, J Dou, CH Fong, S Wang, X Hong, L Dong, Y Liao, J Wang, LS Lam, X Su, H Yan, ML Yang, J Chen, CW Siu, G Xie, YC Woo, Y Wu, KC Tan, K Hveem, BM Cheung, S Zöllner, A Xu, Y Eugene Chen, CQ Jiang, Y Zhang, TH Lam, SK Ganesh, Y Huo, PC Sham, KS Lam, CJ Willer, HF Tse, W Gao
Publication Date: 2015-12-22

Variant appearance in text: APOA5: Gly185Cys; rs2075291
PubMed Link: 26690388
Variant Present in the following documents:
  • Main text
  • ncomms10206-s1.pdf
  • ncomms10206-s2.xlsx
View BVdb publication page



Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.

Journal Of Biomedical Research
TM Forte, V Sharma, RO Ryan
Publication Date: 2016-03

Variant appearance in text: APOA5: 553G>T; rs2075291
PubMed Link: 26679785
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple susceptibility loci at chromosome 11q23.3 are associated with plasma triglyceride in East Asians.

Journal Of Lipid Research
B Gombojav, SJ Lee, M Kho, YM Song, K Lee, J Sung
Publication Date: 2016-02

Variant appearance in text: rs2075291
PubMed Link: 26634697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.

Plos One
SL Xie, TZ Chen, XL Huang, C Chen, R Jin, ZM Huang, MT Zhou
Publication Date: 2015

Variant appearance in text: APOA5: 553G>T; G185C; rs2075291
PubMed Link: 26079787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein A5: Extracellular and Intracellular Roles in Triglyceride Metabolism.

Current Drug Targets
TM Forte, RO Ryan
Publication Date: 2015

Variant appearance in text: APOA5: 553G>T; G185C
PubMed Link: 26028042
Variant Present in the following documents:
  • Main text
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Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.

Journal Of Diabetes And Metabolic Disorders
M Ajjemami, S Ouatou, H Charoute, M Fakiri, H Rhaissi, H Benrahma, H Rouba, A Barakat
Publication Date: 2015

Variant appearance in text: APOA5: 553G>T; G185C; rs2075291
PubMed Link: 25909077
Variant Present in the following documents:
  • Main text
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Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for metabolic syndrome: an extensive search of candidate polymorphisms in a case-control study.

Plos One
M Nakatochi, Y Ushida, Y Yasuda, Y Yoshida, S Kawai, R Kato, T Nakashima, M Iwata, Y Kuwatsuka, M Ando, N Hamajima, T Kondo, H Oda, M Hayashi, S Kato, M Yamaguchi, S Maruyama, S Matsuo, H Honda
Publication Date: 2015

Variant appearance in text: APOA5: Gly185Cys; rs2075291
PubMed Link: 25646961
Variant Present in the following documents:
  • pone.0117591.s001.docx
  • pone.0117591.s002.xlsx
  • pone.0117591.s003.xlsx
  • pone.0117591.s004.xlsx
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Influences of APOA5 variants on plasma triglyceride levels in Uyghur population.

Plos One
S Li, B Hu, Y Wang, D Wu, L Jin, X Wang
Publication Date: 2014

Variant appearance in text: APOA5: 553G>T; G185C; rs2075291
PubMed Link: 25313938
Variant Present in the following documents:
  • Main text
  • pone.0110258.s001.docx
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Polymorphisms of genes involved in lipid metabolism and risk of chronic kidney disease in Japanese - cross-sectional data from the J-MICC study.

Lipids In Health And Disease
A Hishida, K Wakai, M Naito, S Suma, T Sasakabe, N Hamajima, S Hosono, M Horita, TC Turin, S Suzuki, TS Kairupan, H Mikami, K Ohnaka, I Watanabe, H Uemura, M Kubo, H Tanaka,
Publication Date: 2014-10-14

Variant appearance in text: rs2075291
PubMed Link: 25311932
Variant Present in the following documents:
  • Main text
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Aberrant hetero-disulfide bond formation by the hypertriglyceridemia-associated p.Gly185Cys APOA5 variant (rs2075291).

Arteriosclerosis, Thrombosis, And Vascular Biology
V Sharma, A Witkowski, HE Witkowska, A Dykstra, JB Simonsen, L Nelbach, JA Beckstead, CR Pullinger, JP Kane, MJ Malloy, G Watson, TM Forte, RO Ryan
Publication Date: 2014-10

Variant appearance in text: APOA5: 553G>T; Gly185Cys; rs2075291
PubMed Link: 25127531
Variant Present in the following documents:
  • Main text
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Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients.

Lipids In Health And Disease
S Ouatou, M Ajjemami, H Charoute, H Sefri, N Ghalim, H Rhaissi, H Benrahma, A Barakat, H Rouba
Publication Date: 2014-04-01

Variant appearance in text: APOA5: 553G>T; rs2075291
PubMed Link: 24684850
Variant Present in the following documents:
  • Main text
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Genetic polymorphism of apolipoprotein A5 gene and susceptibility to type 2 diabetes mellitus: a meta-analysis of 15,137 subjects.

Plos One
YW Yin, QQ Sun, PJ Wang, L Qiao, AM Hu, HL Liu, Q Wang, ZZ Hou
Publication Date: 2014

Variant appearance in text: APOA5: G185C
PubMed Link: 24586566
Variant Present in the following documents:
  • Main text
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Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.

Journal Of Lipid Research
Y Wu, AF Marvelle, J Li, DC Croteau-Chonka, AB Feranil, CW Kuzawa, Y Li, LS Adair, KL Mohlke
Publication Date: 2013-11

Variant appearance in text: APOA5: Gly185Cys; rs2075291
PubMed Link: 24023260
Variant Present in the following documents:
  • Main text
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Apolipoprotein A5 gene variants and the risk of coronary heart disease: a case‑control study and meta‑analysis.

Molecular Medicine Reports
J Zhou, L Xu, RS Huang, Y Huang, Y Le, D Jiang, X Yang, W Xu, X Huang, C Dong, M Ye, J Lian, S Duan
Publication Date: 2013-10

Variant appearance in text: rs2075291
PubMed Link: 23970179
Variant Present in the following documents:
  • Main text
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The dyslipidemia-associated SNP on the APOA1/C3/A5 gene cluster predicts post-surgery poor outcome in Taiwanese breast cancer patients: a 10-year follow-up study.

Bmc Cancer
MC Hsu, KT Lee, WC Hsiao, CH Wu, HY Sun, IL Lin, KC Young
Publication Date: 2013-07-05

Variant appearance in text: rs2075291
PubMed Link: 23829168
Variant Present in the following documents:
  • 1471-2407-13-330-S1.doc
  • 1471-2407-13-330-S3.doc
  • aaaaaMain text
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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: APOA5: G185C; rs2075291
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
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Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population.

Nutrition & Metabolism
I Rudkowska, C Ouellette, E Dewailly, RA Hegele, V Boiteau, A Dubé-Linteau, B Abdous, F Proust, Y Giguère, P Julien, ML Château-Degat, MC Vohl
Publication Date: 2013-03-12

Variant appearance in text: APOA5: Gly185Cys; rs2075291
PubMed Link: 23497168
Variant Present in the following documents:
  • Main text
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Central obesity in males affected by a dyslipidemia-associated genetic polymorphism on APOA1/C3/A4/A5 gene cluster.

Nutrition & Diabetes
MC Hsu, CS Chang, KT Lee, HY Sun, YS Tsai, PH Kuo, KC Young, CH Wu
Publication Date: 2013-03-04

Variant appearance in text: rs2075291
PubMed Link: 23459084
Variant Present in the following documents:
  • Main text
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Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.

Journal Of Lipid Research
E Mendoza-Barberá, J Julve, SK Nilsson, A Lookene, JM Martín-Campos, R Roig, AM Lechuga-Sancho, JH Sloan, P Fuentes-Prior, F Blanco-Vaca
Publication Date: 2013-03

Variant appearance in text: APOA5: Gly185Cys
PubMed Link: 23307945
Variant Present in the following documents:
  • Main text
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Influence of apolipoprotein A-V on the metabolic fate of triacylglycerol.

Current Opinion In Lipidology
V Sharma, TM Forte, RO Ryan
Publication Date: 2013-04

Variant appearance in text: APOA5: 553G>T
PubMed Link: 23241513
Variant Present in the following documents:
  • Main text
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Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

Plos One
CC Elbers, Y Guo, V Tragante, EP van Iperen, MB Lanktree, BA Castillo, F Chen, LR Yanek, MK Wojczynski, YR Li, B Ferwerda, CM Ballantyne, SG Buxbaum, YD Chen, WM Chen, LA Cupples, M Cushman, Y Duan, D Duggan, MK Evans, JK Fernandes, M Fornage, M Garcia, WT Garvey, N Glazer, F Gomez, TB Harris, I Halder, VJ Howard, MF Keller, MI Kamboh, C Kooperberg, SB Kritchevsky, A LaCroix, K Liu, Y Liu, K Musunuru, AB Newman, NC Onland-Moret, J Ordovas, I Peter, W Post, S Redline, SE Reis, R Saxena, PJ Schreiner, KA Volcik, X Wang, S Yusuf, AB Zonderland, SS Anand, DM Becker, B Psaty, DJ Rader, AP Reiner, SS Rich, JI Rotter, MM Sale, MY Tsai, IB Borecki, RA Hegele, S Kathiresan, MA Nalls, HA Taylor, H Hakonarson, S Sivapalaratnam, FW Asselbergs, F Drenos, JG Wilson, BJ Keating
Publication Date: 2012

Variant appearance in text: rs2075291
PubMed Link: 23236364
Variant Present in the following documents:
  • pone.0050198.s002.pdf
  • pone.0050198.s008.xlsx
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Associations of polymorphisms in the apolipoprotein APOA1-C3-A5 gene cluster with acute coronary syndrome.

Journal Of Biomedicine & Biotechnology
Y Ding, MA Zhu, ZX Wang, J Zhu, JB Feng, DS Li
Publication Date: 2012

Variant appearance in text: APOA5: 553G>T
PubMed Link: 22675253
Variant Present in the following documents:
  • Main text
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Influence of genetic variants in the apolipoprotein A5 and C3 gene on lipids, lipoproteins, and its association with coronary artery disease in Indians.

Journal Of Community Genetics
AA Bhanushali, BR Das
Publication Date: 2010-09

Variant appearance in text: APOA5: 553G>T; G185C
PubMed Link: 22460246
Variant Present in the following documents:
  • Main text
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Apolipoprotein A1/C3/A5 haplotypes and serum lipid levels.

Lipids In Health And Disease
RX Yin, YY Li, CQ Lai
Publication Date: 2011-08-19

Variant appearance in text: rs2075291
PubMed Link: 21854571
Variant Present in the following documents:
  • Main text
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Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology
K Wakai, N Hamajima, R Okada, M Naito, E Morita, A Hishida, S Kawai, K Nishio, G Yin, Y Asai, K Matsuo, S Hosono, H Ito, M Watanabe, T Kawase, T Suzuki, K Tajima, K Tanaka, Y Higaki, M Hara, T Imaizumi, N Taguchi, K Nakamura, H Nanri, T Sakamoto, M Horita, K Shinchi, Y Kita, TC Turin, N Rumana, K Matsui, K Miura, H Ueshima, N Takashima, Y Nakamura, S Suzuki, R Ando, A Hosono, N Imaeda, K Shibata, C Goto, N Hattori, M Fukatsu, T Yamada, S Tokudome, T Takezaki, H Niimura, K Hirasada, A Nakamura, M Tatebo, S Ogawa, N Tsunematsu, S Chiba, H Mikami, S Kono, K Ohnaka, R Takayanagi, Y Watanabe, E Ozaki, M Shigeta, N Kuriyama, A Yoshikawa, D Matsui, I Watanabe, K Inoue, K Ozasa, S Mitani, K Arisawa, H Uemura, M Hiyoshi, H Takami, M Yamaguchi, M Nakamoto, H Takeda, M Kubo, H Tanaka,
Publication Date: 2011

Variant appearance in text: APOA5: Gly185Cys; rs2075291
PubMed Link: 21467728
Variant Present in the following documents:
  • Main text
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Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels.

Plos One
RX Yin, YY Li, WY Liu, L Zhang, JZ Wu
Publication Date: 2011-03-14

Variant appearance in text: rs2075291
PubMed Link: 21423763
Variant Present in the following documents:
  • Main text
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Genetic determinants of plasma triglycerides.

Journal Of Lipid Research
CT Johansen, S Kathiresan, RA Hegele
Publication Date: 2011-02

Variant appearance in text: APOA5: G185C
PubMed Link: 21041806
Variant Present in the following documents:
  • Main text
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Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

Nature Genetics
CT Johansen, J Wang, MB Lanktree, H Cao, AD McIntyre, MR Ban, RA Martins, BA Kennedy, RG Hassell, ME Visser, SM Schwartz, BF Voight, R Elosua, V Salomaa, CJ O'Donnell, GM Dallinga-Thie, SS Anand, S Yusuf, MW Huff, S Kathiresan, RA Hegele
Publication Date: 2010-08

Variant appearance in text: APOA5: G185C
PubMed Link: 20657596
Variant Present in the following documents:
  • NIHMS260054-supplement-Supplemental_Data.pdf
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A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese.

European Journal Of Human Genetics : Ejhg
CQ Jiang, B Liu, BM Cheung, TH Lam, JM Lin, Y Li Jin, XJ Yue, KL Ong, S Tam, KS Wong, B Tomlinson, KS Lam, GN Thomas
Publication Date: 2010-11

Variant appearance in text: rs2075291
PubMed Link: 20571505
Variant Present in the following documents:
  • Main text
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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
E Boes, S Coassin, B Kollerits, IM Heid, F Kronenberg
Publication Date: 2009-03

Variant appearance in text: APOA5: Gly185Cys; rs2075291
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
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Clinical significance of apolipoprotein A5.

Current Opinion In Lipidology
ES Tai, JM Ordovas
Publication Date: 2008-08

Variant appearance in text: APOA5: Gly185Cys
PubMed Link: 18607181
Variant Present in the following documents:
  • Main text
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An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients.

Journal Of Lipid Research
CR Pullinger, BE Aouizerat, I Movsesyan, V Durlach, EJ Sijbrands, K Nakajima, A Poon, GM Dallinga-Thie, H Hattori, LL Green, PY Kwok, RJ Havel, PH Frost, MJ Malloy, JP Kane
Publication Date: 2008-08

Variant appearance in text: APOA5: 553G>T; rs2075291
PubMed Link: 18441017
Variant Present in the following documents:
  • Main text
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Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

Genomics
M Olivier, X Wang, R Cole, B Gau, J Kim, EM Rubin, LA Pennacchio
Publication Date: 2004-05

Variant appearance in text: rs2075291
PubMed Link: 15081120
Variant Present in the following documents:
  • Main text
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227665.4 c.553G>T p.Gly185Cys missense_variant 3/3 -
ENST00000542499.1 c.553G>T p.Gly185Cys missense_variant 4/4 -
NM_001166598.2 c.553G>T p.Gly185Cys missense_variant 4/4 -
NM_001371904.1 c.553G>T p.Gly185Cys missense_variant 3/3 -
NM_052968.5 c.553G>T p.Gly185Cys missense_variant 4/4 -