Variant ID: 11-116619073-C-G

NM_032725.3(BUD13):c.*125G>C

This variant was identified in 47 publications




Publications:


Mendelian randomization analysis rules out disylipidaemia as colorectal cancer cause.

Scientific Reports
G Ibáñez-Sanz, A Díez-Villanueva, M Riera-Ponsati, T Fernández-Villa, P Fernández Navarro, M Bustamante, J Llorca, P Amiano, N Ascunce, G Fernández-Tardón, I Salcedo Bellido, D Salas, R Capelo Álvarez, M Crous-Bou, L Ortega-Valín, B Pérez-Gómez, G Castaño-Vinyals, C Palazuelos, JM Altzibar, E Ardanaz, A Tardón, JJ Jiménez Moleón, V Olmos Juste, N Aragonés, M Pollán, M Kogevinas, V Moreno
Publication Date: 2019-09-16

Variant appearance in text: rs28927680
PubMed Link: 31527690
Variant Present in the following documents:
  • 41598_2019_49880_MOESM1_ESM.doc
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: rs28927680
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
AD Howard, X Wang, M Prasad, AD Sahu, R Aniba, M Miller, S Hannenhalli, YC Chang
Publication Date: 2019

Variant appearance in text: rs28927680
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.

Bmc Medical Genomics
DC Crawford, NA Restrepo, KE Diggins, E Farber-Eger, QS Wells
Publication Date: 2018-09-14

Variant appearance in text: rs28927680
PubMed Link: 30255797
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: rs28927680
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Association of BUD13 polymorphisms with metabolic syndrome in Chinese population: a case-control study.

Lipids In Health And Disease
L Zhang, Y You, Y Wu, Y Zhang, M Wang, Y Song, X Liu, C Kou
Publication Date: 2017-06-28

Variant appearance in text: rs28927680
PubMed Link: 28659142
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: rs28927680
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
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: rs28927680
PubMed Link: 28426890
Variant Present in the following documents:
  • ddw358_supp.docx
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: rs28927680
PubMed Link: 27257688
Variant Present in the following documents:
  • pone.0153720.s002.docx
  • pone.0153720.s003.xlsx
View BVdb publication page



Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

Scientific Reports
JE Below, EJ Parra, ER Gamazon, J Torres, S Krithika, S Candille, Y Lu, A Manichakul, J Peralta-Romero, Q Duan, Y Li, AP Morris, O Gottesman, E Bottinger, XQ Wang, KD Taylor, YD Ida Chen, JI Rotter, SS Rich, RJ Loos, H Tang, NJ Cox, M Cruz, CL Hanis, A Valladares-Salgado
Publication Date: 2016-01-19

Variant appearance in text: rs28927680
PubMed Link: 26780889
Variant Present in the following documents:
  • srep19429-s5.xls
View BVdb publication page



INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
A Verma, JB Leader, SS Verma, A Frase, J Wallace, S Dudek, DR Lavage, CV Van Hout, FE Dewey, J Penn, A Lopez, JD Overton, DJ Carey, DH Ledbetter, HL Kirchner, MD Ritchie, SA Pendergrass
Publication Date: 2016

Variant appearance in text: rs28927680
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
View BVdb publication page



Genetic Variants Associated with Lipid Profiles in Chinese Patients with Type 2 Diabetes.

Plos One
X Kong, Q Zhao, X Xing, B Zhang, X Zhang, J Hong, W Yang
Publication Date: 2015

Variant appearance in text: rs28927680
PubMed Link: 26252223
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.

European Journal Of Human Genetics : Ejhg
X Wang, CY Cheng, J Liao, X Sim, J Liu, KS Chia, ES Tai, P Little, CC Khor, T Aung, TY Wong, YY Teo
Publication Date: 2016-04

Variant appearance in text: rs28927680
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)
L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo
Publication Date: 2015-11

Variant appearance in text: rs28927680
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

Plos Genetics
MA Hall, A Verma, KD Brown-Gentry, R Goodloe, J Boston, S Wilson, B McClellan, C Sutcliffe, HH Dilks, NB Gillani, H Jin, P Mayo, M Allen, N Schnetz-Boutaud, DC Crawford, MD Ritchie, SA Pendergrass
Publication Date: 2014-12

Variant appearance in text: rs28927680
PubMed Link: 25474351
Variant Present in the following documents:
  • Main text
  • pgen.1004678.s007.xlsx
  • pgen.1004678.s011.xlsx
View BVdb publication page



Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.

Circulation. Cardiovascular Genetics
DC Crawford, L Dumitrescu, R Goodloe, K Brown-Gentry, J Boston, B McClellan, C Sutcliffe, R Wiseman, P Baker, MA Pericak-Vance, WK Scott, M Allen, P Mayo, N Schnetz-Boutaud, HH Dilks, JL Haines, TI Pollin
Publication Date: 2014-12

Variant appearance in text: rs28927680
PubMed Link: 25363704
Variant Present in the following documents:
  • NIHMS640711-supplement-000369_-_Supplemental_Material.pdf
View BVdb publication page



Sex-specific association of the zinc finger protein 259 rs2075290 polymorphism and serum lipid levels.

International Journal Of Medical Sciences
LH Aung, RX Yin, DF Wu, W Wang, JZ Wu, CW Liu
Publication Date: 2014

Variant appearance in text: rs28927680
PubMed Link: 24688311
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiancestral analysis of inflammation-related genetic variants and C-reactive protein in the population architecture using genomics and epidemiology study.

Circulation. Cardiovascular Genetics
JM Kocarnik, SA Pendergrass, CL Carty, JS Pankow, FR Schumacher, I Cheng, P Durda, JL Ambite, E Deelman, NR Cook, S Liu, J Wactawski-Wende, C Hutter, K Brown-Gentry, S Wilson, LG Best, N Pankratz, CP Hong, SA Cole, VS Voruganti, P Bůžkova, NW Jorgensen, NS Jenny, LR Wilkens, CA Haiman, LN Kolonel, A Lacroix, K North, R Jackson, L Le Marchand, LA Hindorff, DC Crawford, M Gross, U Peters
Publication Date: 2014-04

Variant appearance in text: rs28927680
PubMed Link: 24622110
Variant Present in the following documents:
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
View BVdb publication page



Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).

Bmc Medical Genetics
R Goodloe, K Brown-Gentry, NB Gillani, H Jin, P Mayo, M Allen, B McClellan, J Boston, C Sutcliffe, N Schnetz-Boutaud, HH Dilks, DC Crawford
Publication Date: 2013-11-21

Variant appearance in text: rs28927680
PubMed Link: 24256507
Variant Present in the following documents:
  • 1471-2350-14-120-S1.doc
  • aaaaaMain text
View BVdb publication page



No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population.

Human Genetics
L Dumitrescu, CL Carty, N Franceschini, LA Hindorff, SA Cole, P Bůžková, FR Schumacher, CB Eaton, RJ Goodloe, DJ Duggan, J Haessler, B Cochran, BE Henderson, I Cheng, KC Johnson, CS Carlson, SA Love, K Brown-Gentry, AQ Nato, M Quibrera, RV Shohet, JL Ambite, LR Wilkens, L Le Marchand, CA Haiman, S Buyske, C Kooperberg, KE North, M Fornage, DC Crawford
Publication Date: 2013-12

Variant appearance in text: rs28927680
PubMed Link: 24100633
Variant Present in the following documents:
  • NIHMS530028-supplement-439_2013_1375_MOESM1_ESM.docx
View BVdb publication page



Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study.

Plos Biology
CS Carlson, TC Matise, KE North, CA Haiman, MD Fesinmeyer, S Buyske, FR Schumacher, U Peters, N Franceschini, MD Ritchie, DJ Duggan, KL Spencer, L Dumitrescu, CB Eaton, F Thomas, A Young, C Carty, G Heiss, L Le Marchand, DC Crawford, LA Hindorff, CL Kooperberg,
Publication Date: 2013-09

Variant appearance in text: rs28927680
PubMed Link: 24068893
Variant Present in the following documents:
  • Main text
  • pbio.1001661.s003.xlsx
  • pbio.1001661.s004.xlsx
  • pbio.1001661.s005.xlsx
  • pbio.1001661.s006.xlsx
  • pbio.1001661.s008.docx
View BVdb publication page



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: rs28927680
PubMed Link: 24023260
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Bmc Genetics
KC Taylor, CL Carty, L Dumitrescu, P Bůžková, SA Cole, L Hindorff, FR Schumacher, LR Wilkens, RV Shohet, PM Quibrera, KC Johnson, BE Henderson, J Haessler, N Franceschini, CB Eaton, DJ Duggan, B Cochran, I Cheng, CS Carlson, K Brown-Gentry, G Anderson, JL Ambite, C Haiman, L Le Marchand, C Kooperberg, DC Crawford, S Buyske, KE North, M Fornage,
Publication Date: 2013-05-01

Variant appearance in text: rs28927680
PubMed Link: 23634756
Variant Present in the following documents:
  • 1471-2156-14-33-S1.pdf
  • aaaaaMain text
View BVdb publication page



Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Plos One
C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson
Publication Date: 2013

Variant appearance in text: rs28927680
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.pdf
View BVdb publication page



Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

Plos Genetics
SA Pendergrass, K Brown-Gentry, S Dudek, A Frase, ES Torstenson, R Goodloe, JL Ambite, CL Avery, S Buyske, P Bůžková, E Deelman, MD Fesinmeyer, CA Haiman, G Heiss, LA Hindorff, CN Hsu, RD Jackson, C Kooperberg, L Le Marchand, Y Lin, TC Matise, KR Monroe, L Moreland, SL Park, A Reiner, R Wallace, LR Wilkens, DC Crawford, MD Ritchie
Publication Date: 2013

Variant appearance in text: rs28927680
PubMed Link: 23382687
Variant Present in the following documents:
  • pgen.1003087.s001.xlsx
View BVdb publication page



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: rs28927680
PubMed Link: 23236364
Variant Present in the following documents:
  • pone.0050198.s002.pdf
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: rs28927680
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
  • mmc7.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: rs28927680
PubMed Link: 23050023
Variant Present in the following documents:
  • pone.0046385.s002.xls
View BVdb publication page



Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.

Plos One
G Lucas, C Lluís-Ganella, I Subirana, MD Musameh, JR Gonzalez, CP Nelson, M Sentí, , , SM Schwartz, D Siscovick, CJ O'Donnell, O Melander, V Salomaa, S Purcell, D Altshuler, NJ Samani, S Kathiresan, R Elosua
Publication Date: 2012

Variant appearance in text: rs28927680
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.pdf
View BVdb publication page



Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology Of Disease
DG Hernandez, MA Nalls, M Moore, S Chong, A Dillman, D Trabzuni, JR Gibbs, M Ryten, S Arepalli, ME Weale, AB Zonderman, J Troncoso, R O'Brien, R Walker, C Smith, S Bandinelli, BJ Traynor, J Hardy, AB Singleton, MR Cookson
Publication Date: 2012-07

Variant appearance in text: rs28927680
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
View BVdb publication page



Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

Circulation. Cardiovascular Genetics
CL Carty, P Buzková, M Fornage, N Franceschini, S Cole, G Heiss, LA Hindorff, BV Howard, S Mann, LW Martin, Y Zhang, TC Matise, R Prentice, AP Reiner, C Kooperberg
Publication Date: 2012-04-01

Variant appearance in text: rs28927680
PubMed Link: 22403240
Variant Present in the following documents:
  • NIHMS369440-supplement-01.pdf
View BVdb publication page



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

World Journal Of Cardiology
P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan
Publication Date: 2011-07-26

Variant appearance in text: rs28927680
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for age as a modifier of genetic associations for lipid levels.

Annals Of Human Genetics
L Dumitrescu, K Brown-Gentry, R Goodloe, K Glenn, W Yang, N Kornegay, CH Pui, MV Relling, DC Crawford
Publication Date: 2011-09

Variant appearance in text: rs28927680
PubMed Link: 21777205
Variant Present in the following documents:
  • NIHMS304382-supplement-Supp_Table_S1-S4.doc
View BVdb publication page



Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
L Dumitrescu, CL Carty, K Taylor, FR Schumacher, LA Hindorff, JL Ambite, G Anderson, LG Best, K Brown-Gentry, P Bůžková, CS Carlson, B Cochran, SA Cole, RB Devereux, D Duggan, CB Eaton, M Fornage, N Franceschini, J Haessler, BV Howard, KC Johnson, S Laston, LN Kolonel, ET Lee, JW MacCluer, TA Manolio, SA Pendergrass, M Quibrera, RV Shohet, LR Wilkens, CA Haiman, L Le Marchand, S Buyske, C Kooperberg, KE North, DC Crawford
Publication Date: 2011-06

Variant appearance in text: rs28927680
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.s015.doc
View BVdb publication page



Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Circulation. Cardiovascular Genetics
AC Edmondson, PS Braund, IM Stylianou, AV Khera, CP Nelson, ML Wolfe, SL Derohannessian, BJ Keating, L Qu, J He, MD Tobin, M Tomaszewski, J Baumert, N Klopp, A Döring, B Thorand, M Li, MP Reilly, W Koenig, NJ Samani, DJ Rader
Publication Date: 2011-04

Variant appearance in text: rs28927680
PubMed Link: 21303902
Variant Present in the following documents:
  • NIHMS280051-supplement-1.pdf
View BVdb publication page



Genetic predisposition influences plasma lipids of participants on habitual diet, but not the response to reductions in dietary intake of saturated fatty acids.

Atherosclerosis
CG Walker, RJ Loos, AD Olson, GS Frost, BA Griffin, JA Lovegrove, TA Sanders, SA Jebb
Publication Date: 2011-04

Variant appearance in text: rs28927680
PubMed Link: 21292264
Variant Present in the following documents:
  • mmc3.doc
  • mmc4.pdf
  • mmc5.pdf
View BVdb publication page



Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.

Plos Genetics
EJ Rossin, K Lage, S Raychaudhuri, RJ Xavier, D Tatar, Y Benita, , C Cotsapas, MJ Daly
Publication Date: 2011-01-13

Variant appearance in text: rs28927680
PubMed Link: 21249183
Variant Present in the following documents:
  • pgen.1001273.s011.xls
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs28927680
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of obesity and the metabolic syndrome.

Endocrine, Metabolic & Immune Disorders Drug Targets
KL Monda, KE North, SC Hunt, DC Rao, MA Province, AT Kraja
Publication Date: 2010-06

Variant appearance in text: rs28927680
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between a literature-based genetic risk score and cardiovascular events in women.

Jama
NP Paynter, DI Chasman, G Paré, JE Buring, NR Cook, JP Miletich, PM Ridker
Publication Date: 2010-02-17

Variant appearance in text: rs28927680
PubMed Link: 20159871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.

Bmc Proceedings
JS Hamid, NM Roslin, AD Paterson, J Beyene
Publication Date: 2009-12-15

Variant appearance in text: rs28927680
PubMed Link: 20018036
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

American Journal Of Human Genetics
PJ Talmud, F Drenos, S Shah, T Shah, J Palmen, C Verzilli, TR Gaunt, J Pallas, R Lovering, K Li, JP Casas, R Sofat, M Kumari, S Rodriguez, T Johnson, SJ Newhouse, A Dominiczak, NJ Samani, M Caulfield, P Sever, A Stanton, DC Shields, S Padmanabhan, O Melander, C Hastie, C Delles, S Ebrahim, MG Marmot, GD Smith, DA Lawlor, PB Munroe, IN Day, M Kivimaki, J Whittaker, SE Humphries, AD Hingorani, , ,
Publication Date: 2009-11

Variant appearance in text: rs28927680
PubMed Link: 19913121
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xls
View BVdb publication page



A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

Human Molecular Genetics
RA Hegele, MR Ban, N Hsueh, BA Kennedy, H Cao, GY Zou, S Anand, S Yusuf, MW Huff, J Wang
Publication Date: 2009-11-01

Variant appearance in text: rs28927680
PubMed Link: 19656773
Variant Present in the following documents:
  • Main text
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Nature Genetics
YS Aulchenko, S Ripatti, I Lindqvist, D Boomsma, IM Heid, PP Pramstaller, BW Penninx, AC Janssens, JF Wilson, T Spector, NG Martin, NL Pedersen, KO Kyvik, J Kaprio, A Hofman, NB Freimer, MR Jarvelin, U Gyllensten, H Campbell, I Rudan, A Johansson, F Marroni, C Hayward, V Vitart, I Jonasson, C Pattaro, A Wright, N Hastie, I Pichler, AA Hicks, M Falchi, G Willemsen, JJ Hottenga, EJ de Geus, GW Montgomery, J Whitfield, P Magnusson, J Saharinen, M Perola, K Silander, A Isaacs, EJ Sijbrands, AG Uitterlinden, JC Witteman, BA Oostra, P Elliott, A Ruokonen, C Sabatti, C Gieger, T Meitinger, F Kronenberg, A Döring, HE Wichmann, JH Smit, MI McCarthy, CM van Duijn, L Peltonen,
Publication Date: 2009-01

Variant appearance in text: rs28927680
PubMed Link: 19060911
Variant Present in the following documents:
  • NIHMS4347-supplement-figures_and_ta.pdf
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Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Nature Genetics
C Sabatti, SK Service, AL Hartikainen, A Pouta, S Ripatti, J Brodsky, CG Jones, NA Zaitlen, T Varilo, M Kaakinen, U Sovio, A Ruokonen, J Laitinen, E Jakkula, L Coin, C Hoggart, A Collins, H Turunen, S Gabriel, P Elliot, MI McCarthy, MJ Daly, MR Järvelin, NB Freimer, L Peltonen
Publication Date: 2009-01

Variant appearance in text: rs28927680
PubMed Link: 19060910
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: rs28927680
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Nature Genetics
S Kathiresan, O Melander, C Guiducci, A Surti, NP Burtt, MJ Rieder, GM Cooper, C Roos, BF Voight, AS Havulinna, B Wahlstrand, T Hedner, D Corella, ES Tai, JM Ordovas, G Berglund, E Vartiainen, P Jousilahti, B Hedblad, MR Taskinen, C Newton-Cheh, V Salomaa, L Peltonen, L Groop, DM Altshuler, M Orho-Melander
Publication Date: 2008-02

Variant appearance in text: rs28927680
PubMed Link: 18193044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000260210.4 c.*125G>C - 3_prime_UTR_variant 10/10 -
ENST00000375445.3 c.*125G>C - 3_prime_UTR_variant 10/10 -
ENST00000419189.1 c.*405G>C - 3_prime_UTR_variant,NMD_transcript_variant 4/4 -
NM_001159736.1 c.*125G>C - 3_prime_UTR_variant 10/10 -
NM_032725.4 c.*125G>C - 3_prime_UTR_variant 10/10 -