Variant ID: 16-57017292-A-G

NM_000078.2(CETP):c.1376A>G;(p.Asp459Gly)

This variant was identified in 41 publications




Publications:


Protective Variants in Alzheimer's Disease.

Current Genetic Medicine Reports
SJ Andrews, B Fulton-Howard, A Goate
Publication Date: 2019-03

Variant appearance in text: rs2303790
PubMed Link: 33117616
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age-related macular degeneration.

Molecular Genetics & Genomic Medicine
R Liutkeviciene, A Vilkeviciute, L Kriauciuniene, M Banevicius, B Budiene, D Stanislovaitiene, R Zemaitiene, VP Deltuva
Publication Date: 2020-09

Variant appearance in text: rs2303790
PubMed Link: 32666702
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-Density Lipoprotein Cholesterol in Age-Related Ocular Diseases.

Biomolecules
BK Betzler, TH Rim, C Sabanayagam, CMG Cheung, CY Cheng
Publication Date: 2020-04-22

Variant appearance in text: rs2303790
PubMed Link: 32331355
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: rs2303790
PubMed Link: 31910446
Variant Present in the following documents:
  • Main text
View BVdb publication page



CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels.

Scientific Reports
CJ Lee, MS Park, M Kim, SJ Ann, J Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
Publication Date: 2019-07-29

Variant appearance in text: rs2303790
PubMed Link: 31358896
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: rs2303790
PubMed Link: 30718733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cholesteryl Ester Transfer Protein Inhibition for Preventing Cardiovascular Events: JACC Review Topic of the Week.

Journal Of The American College Of Cardiology
J Armitage, MV Holmes, D Preiss
Publication Date: 2019-02-05

Variant appearance in text: rs2303790
PubMed Link: 30704580
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: rs2303790
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM7_ESM.xlsx
View BVdb publication page



Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
GM Peloso, SJ van der Lee, , AL Destefano, S Seshardi
Publication Date: 2018

Variant appearance in text: CETP: ASP459GLY; rs2303790
PubMed Link: 30422133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomization reveals unexpected effects of CETP on the lipoprotein profile.

European Journal Of Human Genetics : Ejhg
LL Blauw, R Noordam, S Soidinsalo, CA Blauw, R Li-Gao, R de Mutsert, JFP Berbée, Y Wang, D van Heemst, FR Rosendaal, JW Jukema, DO Mook-Kanamori, P Würtz, K Willems van Dijk, PCN Rensen
Publication Date: 2019-03

Variant appearance in text: rs2303790
PubMed Link: 30420679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation of Color Fundus Photograph Grading with Risks of Early Age-related Macular Degeneration by using Automated OCT-derived Drusen Measurements.

Scientific Reports
CMG Cheung, Y Shi, YC Tham, C Sabanayagam, K Neelam, JJ Wang, P Mitchell, CY Cheng, TY Wong, CYL Cheung
Publication Date: 2018-08-28

Variant appearance in text: rs2303790
PubMed Link: 30154521
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Genes in the High-Density Lipoprotein Metabolic Pathway with Polypoidal Choroidal Vasculopathy in Asian Population: A Systematic Review and Meta-Analysis.

Journal Of Ophthalmology
MZ Yuan, RA Han, CX Zhang, YX Chen
Publication Date: 2018

Variant appearance in text: rs2303790
PubMed Link: 29977615
Variant Present in the following documents:
  • 9538671.f1.docx
  • aaaaaMain text
View BVdb publication page



New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.

Scientific Reports
HS Lee, Y Kim, T Park
Publication Date: 2018-04-09

Variant appearance in text: rs2303790
PubMed Link: 29632305
Variant Present in the following documents:
  • 41598_2018_23074_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Association of CETP Gene Variants With Risk for Vascular and Nonvascular Diseases Among Chinese Adults.

Jama Cardiology
IY Millwood, DA Bennett, MV Holmes, R Boxall, Y Guo, Z Bian, L Yang, S Sansome, Y Chen, H Du, C Yu, A Hacker, DF Reilly, Y Tan, MR Hill, J Chen, R Peto, H Shen, R Collins, R Clarke, L Li, RG Walters, Z Chen,
Publication Date: 2018-01-01

Variant appearance in text: CETP: 1376A>G; D459G; rs2303790
PubMed Link: 29141072
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: CETP: Asp459Gly; rs2303790
PubMed Link: 29083407
Variant Present in the following documents:
  • Main text
  • NIHMS909133-supplement-1.docx
View BVdb publication page



A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.

Scientific Reports
K Kawashima-Kumagai, K Yamashiro, M Yoshikawa, M Miyake, GCC Ming, Q Fan, JY Koh, M Saito, M Sugahara-Kuroda, M Oishi, Y Akagi-Kurashige, I Nakata, H Nakanishi, N Gotoh, A Oishi, H Tamura, S Ooto, A Tsujikawa, Y Kurimoto, T Sekiryu, F Matsuda, CC Khor, CY Cheng, TY Wong, N Yoshimura
Publication Date: 2017-08-03

Variant appearance in text: rs2303790
PubMed Link: 28775256
Variant Present in the following documents:
  • 41598_2017_7526_MOESM1_ESM.xls
View BVdb publication page



Plasma lipoprotein subfraction concentrations are associated with lipid metabolism and age-related macular degeneration.

Journal Of Lipid Research
CMG Cheung, A Gan, Q Fan, ML Chee, RS Apte, CC Khor, I Yeo, R Mathur, CY Cheng, TY Wong, ES Tai
Publication Date: 2017-09

Variant appearance in text: rs2303790
PubMed Link: 28698208
Variant Present in the following documents:
  • Main text
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: CETP: D459G; rs2303790
PubMed Link: 28473662
Variant Present in the following documents:
  • oncotarget-08-38950-s002.docx
  • oncotarget-08-38950-s013.docx
  • oncotarget-08-38950-s016.docx
  • oncotarget-08-38950-s019.docx
View BVdb publication page



An in silico model of retinal cholesterol dynamics (RCD model): insights into the pathophysiology of dry AMD.

Journal Of Lipid Research
SM Zekavat, J Lu, C Maugeais, NA Mazer
Publication Date: 2017-07

Variant appearance in text: rs2303790
PubMed Link: 28442497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systemic, Ocular and Genetic Risk Factors for Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Singaporeans.

Scientific Reports
CM Cheung, A Laude, I Yeo, SP Tan, Q Fan, R Mathur, SY Lee, CM Chan, G Tan, TH Lim, CY Cheng, TY Wong
Publication Date: 2017-01-25

Variant appearance in text: rs2303790
PubMed Link: 28120909
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease-associated marked hyperalphalipoproteinemia.

Molecular Genetics And Metabolism Reports
KI Hirano, H Nagasaka, K Kobayashi, S Yamaguchi, A Suzuki, T Toda, M Doyu
Publication Date: 2014

Variant appearance in text: rs2303790
PubMed Link: 27896098
Variant Present in the following documents:
  • Main text
View BVdb publication page



c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians.

Plos One
M Ganesan, S Nizamuddin, SK Katkam, K Kumaraswami, UK Hosad, LL Lobo, VK Kutala, K Thangaraj
Publication Date: 2016

Variant appearance in text: rs2303790
PubMed Link: 27768712
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: rs2303790
PubMed Link: 27227539
Variant Present in the following documents:
  • pgen.1006078.s008.pdf
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: CETP: D459G; rs2303790
PubMed Link: 26690388
Variant Present in the following documents:
  • Main text
  • ncomms10206-s2.xlsx
View BVdb publication page



Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Journal Of Lipid Research
SN Sadananda, JN Foo, MT Toh, L Cermakova, L Trigueros-Motos, T Chan, H Liany, JA Collins, S Gerami, RR Singaraja, MR Hayden, GA Francis, J Frohlich, CC Khor, LR Brunham
Publication Date: 2015-10

Variant appearance in text: CETP: 1376A>G; Asp459Gly; rs2303790
PubMed Link: 26255038
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polypoidal Choroidal Vasculopathy in Asians.

Journal Of Clinical Medicine
CW Wong, TY Wong, CM Cheung
Publication Date: 2015-04-24

Variant appearance in text: rs2303790
PubMed Link: 26239448
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of low-frequency and rare variants on lipid levels.

Nature Genetics
I Surakka, M Horikoshi, R Mägi, AP Sarin, A Mahajan, V Lagou, L Marullo, T Ferreira, B Miraglio, S Timonen, J Kettunen, M Pirinen, J Karjalainen, G Thorleifsson, S Hägg, JJ Hottenga, A Isaacs, C Ladenvall, M Beekman, T Esko, JS Ried, CP Nelson, C Willenborg, S Gustafsson, HJ Westra, M Blades, AJ de Craen, EJ de Geus, J Deelen, H Grallert, A Hamsten, AS Havulinna, C Hengstenberg, JJ Houwing-Duistermaat, E Hyppönen, LC Karssen, T Lehtimäki, V Lyssenko, PK Magnusson, E Mihailov, M Müller-Nurasyid, JP Mpindi, NL Pedersen, BW Penninx, M Perola, TH Pers, A Peters, J Rung, JH Smit, V Steinthorsdottir, MD Tobin, N Tsernikova, EM van Leeuwen, JS Viikari, SM Willems, G Willemsen, H Schunkert, J Erdmann, NJ Samani, J Kaprio, L Lind, C Gieger, A Metspalu, PE Slagboom, L Groop, CM van Duijn, JG Eriksson, A Jula, V Salomaa, DI Boomsma, C Power, OT Raitakari, E Ingelsson, MR Järvelin, U Thorsteinsdottir, L Franke, E Ikonen, O Kallioniemi, V Pietiäinen, CM Lindgren, K Stefansson, A Palotie, MI McCarthy, AP Morris, I Prokopenko, S Ripatti,
Publication Date: 2015-06

Variant appearance in text: rs2303790
PubMed Link: 25961943
Variant Present in the following documents:
  • NIHMS67068-supplement-Supplementary_tables_1-7__9-14.docx
View BVdb publication page



New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Nature Communications
CY Cheng, K Yamashiro, LJ Chen, J Ahn, L Huang, L Huang, CM Cheung, M Miyake, PD Cackett, IY Yeo, A Laude, R Mathur, J Pang, KS Sim, AH Koh, P Chen, SY Lee, D Wong, CM Chan, BK Loh, Y Sun, S Davila, I Nakata, H Nakanishi, Y Akagi-Kurashige, N Gotoh, A Tsujikawa, F Matsuda, K Mori, S Yoneya, Y Sakurada, H Iijima, T Iida, S Honda, TY Lai, PO Tam, H Chen, S Tang, X Ding, F Wen, F Lu, X Zhang, Y Shi, P Zhao, B Zhao, J Sang, B Gong, R Dorajoo, JM Yuan, WP Koh, RM van Dam, Y Friedlander, Y Lin, ML Hibberd, JN Foo, N Wang, CH Wong, GS Tan, SJ Park, M Bhargava, L Gopal, T Naing, J Liao, PG Ong, P Mitchell, P Zhou, X Xie, J Liang, J Mei, X Jin, SM Saw, M Ozaki, T Mizoguchi, Y Kurimoto, SJ Woo, H Chung, HG Yu, JY Shin, DH Park, IT Kim, W Chang, M Sagong, SJ Lee, HW Kim, JE Lee, Y Li, J Liu, YY Teo, CK Heng, TH Lim, SK Yang, K Song, EN Vithana, T Aung, JX Bei, YX Zeng, ES Tai, XX Li, Z Yang, KH Park, CP Pang, N Yoshimura, TY Wong, CC Khor
Publication Date: 2015-01-28

Variant appearance in text: rs2303790
PubMed Link: 25629512
Variant Present in the following documents:
  • Main text
  • ncomms7063-s1.pdf
View BVdb publication page



Seven functional polymorphisms in the CETP gene and myocardial infarction risk: a meta-analysis and meta-regression.

Plos One
Q Wang, SB Zhou, LJ Wang, MM Lei, Y Wang, C Miao, YZ Jin
Publication Date: 2014

Variant appearance in text: rs2303790
PubMed Link: 24533069
Variant Present in the following documents:
  • Main text
  • pone.0088118.s003.xls
View BVdb publication page



Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics
SK Service, TM Teslovich, C Fuchsberger, V Ramensky, P Yajnik, DC Koboldt, DE Larson, Q Zhang, L Lin, R Welch, L Ding, MD McLellan, M O'Laughlin, C Fronick, LL Fulton, V Magrini, A Swift, P Elliott, MR Jarvelin, M Kaakinen, MI McCarthy, L Peltonen, A Pouta, LL Bonnycastle, FS Collins, N Narisu, HM Stringham, J Tuomilehto, S Ripatti, RS Fulton, C Sabatti, RK Wilson, M Boehnke, NB Freimer
Publication Date: 2014-01

Variant appearance in text: rs2303790
PubMed Link: 24497850
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotypes and genotypes of high density lipoprotein cholesterol in exceptional longevity.

Current Vascular Pharmacology
S Milman, G Atzmon, J Crandall, N Barzilai
Publication Date: 2014

Variant appearance in text: rs2303790
PubMed Link: 24350928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using a multi-staged strategy based on machine learning and mathematical modeling to predict genotype-phenotype risk patterns in diabetic kidney disease: a prospective case-control cohort analysis.

Bmc Nephrology
RK Leung, Y Wang, RC Ma, AO Luk, V Lam, M Ng, WY So, SK Tsui, JC Chan
Publication Date: 2013-07-23

Variant appearance in text: rs2303790
PubMed Link: 23879411
Variant Present in the following documents:
  • 1471-2369-14-162-S1.doc
View BVdb publication page



High-density lipoprotein (HDL) particle subpopulations in heterozygous cholesteryl ester transfer protein (CETP) deficiency: maintenance of antioxidative activity.

Plos One
S Chantepie, AE Bochem, MJ Chapman, GK Hovingh, A Kontush
Publication Date: 2012

Variant appearance in text: CETP: D459G
PubMed Link: 23189141
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

American Journal Of Human Genetics
FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos
Publication Date: 2012-11-02

Variant appearance in text: rs2303790
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc9.xls
View BVdb publication page



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

Plos One
F Takeuchi, M Isono, T Katsuya, M Yokota, K Yamamoto, T Nabika, K Shimokawa, E Nakashima, T Sugiyama, H Rakugi, S Yamaguchi, T Ogihara, Y Yamori, N Kato
Publication Date: 2012

Variant appearance in text: rs2303790
PubMed Link: 23050023
Variant Present in the following documents:
  • Main text
  • pone.0046385.s003.xls
  • pone.0046385.s004.xls
  • pone.0046385.s005.xls
View BVdb publication page



A map of human genome variation from population-scale sequencing.

Nature
, GR Abecasis, D Altshuler, A Auton, LD Brooks, RM Durbin, RA Gibbs, ME Hurles, GA McVean
Publication Date: 2010-10-28

Variant appearance in text: rs2303790
PubMed Link: 20981092
Variant Present in the following documents:
  • NIHMS34220-supplement-SuppTables.xls
View BVdb publication page



Cholesteryl ester transfer protein, coronary calcium, and intima-media thickness of the carotid artery in middle-age Japanese men.

The American Journal Of Cardiology
T Okamura, A Sekikawa, T Kadowaki, A El-Saed, RD Abbott, JD Curb, D Edmundowicz, Y Nakamura, K Murata, A Kashiwagi, K Sutton-Tyrrell, RW Evans, JM Zmuda, H Maegawa, A Hozawa, K Mitsunami, Y Nishio, I Miljkovic-Gacic, M Horie, N Miyamatsu, Y Murakami, LH Kuller, H Ueshima
Publication Date: 2009-09-15

Variant appearance in text: rs2303790
PubMed Link: 19733717
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene polymorphisms for ischemic stroke.

Stroke
M Matarin, WM Brown, H Dena, A Britton, FW De Vrieze, TG Brott, RD Brown, BB Worrall, LD Case, SJ Chanock, EJ Metter, L Ferruci, D Gamble, JA Hardy, SS Rich, A Singleton, JF Meschia
Publication Date: 2009-11

Variant appearance in text: CETP: Asp459Gly; rs2303790
PubMed Link: 19729601
Variant Present in the following documents:
  • NIHMS145584-supplement-1.pdf
View BVdb publication page



TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

Journal Of Biomedical Science
TC Lins, BS Abreu, RW Pereira
Publication Date: 2009-08-14

Variant appearance in text: rs2303790
PubMed Link: 19682379
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke
X Wang, S Cheng, VH Brophy, HA Erlich, C Mannhalter, K Berger, W Lalouschek, WS Browner, Y Shi, EB Ringelstein, C Kessler, J Luedemann, K Lindpaintner, L Liu, PM Ridker, RY Zee, NR Cook,
Publication Date: 2009-03

Variant appearance in text: rs2303790
PubMed Link: 19131662
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2303790
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
  • NIHMS99066-supplement-1.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000200676.3 c.1376A>G p.Asp459Gly missense_variant 15/16 -
ENST00000379780.2 c.1196A>G p.Asp399Gly missense_variant 14/15 -
ENST00000566128.1 c.1181A>G p.Asp394Gly missense_variant 15/16 -
NM_000078.3 c.1376A>G p.Asp459Gly missense_variant 15/16 -
NM_001286085.2 c.1196A>G p.Asp399Gly missense_variant 14/15 -