Variant ID: 2-44073881-T-C

NM_022437.2(ABCG8):c.322+431T>C

This variant was identified in 120 publications




Publications:


Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population.

Disease Markers
AN Cheema, D Pirim, X Wang, J Ali, A Bhatti, P John, E Feingold, FY Demirci, MI Kamboh
Publication Date: 2020

Variant appearance in text: rs6544713
PubMed Link: 32685059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prioritization of causal genes for coronary artery disease based on cumulative evidence from experimental and in silico studies.

Scientific Reports
AS Shadrina, TI Shashkova, AA Torgasheva, SZ Sharapov, L Klarić, ED Pakhomov, DG Alexeev, JF Wilson, YA Tsepilov, PK Joshi, YS Aulchenko
Publication Date: 2020-06-26

Variant appearance in text: rs6544713
PubMed Link: 32591598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

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

Variant appearance in text: rs6544713
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses.

Korean Circulation Journal
W Spiller, KJ Jung, JY Lee, SH Jee
Publication Date: 2020-02

Variant appearance in text: rs6544713
PubMed Link: 31845553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.

Nature Communications
R Noordam, MM Bos, H Wang, TW Winkler, AR Bentley, TO Kilpeläinen, PS de Vries, YJ Sung, K Schwander, BE Cade, A Manning, H Aschard, MR Brown, H Chen, N Franceschini, SK Musani, M Richard, D Vojinovic, S Aslibekyan, TM Bartz, L de Las Fuentes, M Feitosa, AR Horimoto, M Ilkov, M Kho, A Kraja, C Li, E Lim, Y Liu, DO Mook-Kanamori, T Rankinen, SM Tajuddin, A van der Spek, Z Wang, J Marten, V Laville, M Alver, E Evangelou, ME Graff, M He, B Kühnel, LP Lyytikäinen, P Marques-Vidal, IM Nolte, ND Palmer, R Rauramaa, XO Shu, H Snieder, S Weiss, W Wen, LR Yanek, C Adolfo, C Ballantyne, L Bielak, NR Biermasz, E Boerwinkle, N Dimou, G Eiriksdottir, C Gao, SA Gharib, DJ Gottlieb, J Haba-Rubio, TB Harris, S Heikkinen, R Heinzer, JE Hixson, G Homuth, MA Ikram, P Komulainen, JE Krieger, J Lee, J Liu, KK Lohman, AI Luik, R Mägi, LW Martin, T Meitinger, A Metspalu, Y Milaneschi, MA Nalls, J O'Connell, A Peters, P Peyser, OT Raitakari, AP Reiner, PCN Rensen, TK Rice, SS Rich, T Roenneberg, JI Rotter, PJ Schreiner, J Shikany, SS Sidney, M Sims, CM Sitlani, T Sofer, K Strauch, MA Swertz, KD Taylor, AG Uitterlinden, CM van Duijn, H Völzke, M Waldenberger, RB Wallance, KW van Dijk, C Yu, AB Zonderman, DM Becker, P Elliott, T Esko, C Gieger, HJ Grabe, TA Lakka, T Lehtimäki, KE North, BWJH Penninx, P Vollenweider, LE Wagenknecht, T Wu, YB Xiang, W Zheng, DK Arnett, C Bouchard, MK Evans, V Gudnason, S Kardia, TN Kelly, SB Kritchevsky, RJF Loos, AC Pereira, M Province, BM Psaty, C Rotimi, X Zhu, N Amin, LA Cupples, M Fornage, EF Fox, X Guo, WJ Gauderman, K Rice, C Kooperberg, PB Munroe, CT Liu, AC Morrison, DC Rao, D van Heemst, S Redline
Publication Date: 2019-11-12

Variant appearance in text: rs6544713
PubMed Link: 31719535
Variant Present in the following documents:
  • 41467_2019_12958_MOESM7_ESM.xlsx
View BVdb publication page



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

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs6544713
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM6_ESM.xlsx
View BVdb publication page



Robust methods in Mendelian randomization via penalization of heterogeneous causal estimates.

Plos One
JMB Rees, AM Wood, F Dudbridge, S Burgess
Publication Date: 2019

Variant appearance in text: rs6544713
PubMed Link: 31545794
Variant Present in the following documents:
  • pone.0222362.s001.pdf
View BVdb publication page



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: rs6544713
PubMed Link: 31527690
Variant Present in the following documents:
  • 41598_2019_49880_MOESM1_ESM.doc
View BVdb publication page



Learning from Longitudinal Data in Electronic Health Record and Genetic Data to Improve Cardiovascular Event Prediction.

Scientific Reports
J Zhao, Q Feng, P Wu, RA Lupu, RA Wilke, QS Wells, JC Denny, WQ Wei
Publication Date: 2019-01-24

Variant appearance in text: rs6544713
PubMed Link: 30679510
Variant Present in the following documents:
  • 41598_2018_36745_MOESM2_ESM.xlsx
View BVdb publication page



Identifying genetic markers associated with susceptibility to cardiovascular diseases.

Future Science Oa
H Shukla, JL Mason, A Sabyah
Publication Date: 2019-01

Variant appearance in text: rs6544713
PubMed Link: 30652019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions.

Frontiers In Genetics
EM Paraboschi, G Cardamone, G Soldà, S Duga, R Asselta
Publication Date: 2018

Variant appearance in text: rs6544713
PubMed Link: 30619471
Variant Present in the following documents:
  • Data_Sheet_1.docx
View BVdb publication page



Druggability of Coronary Artery Disease Risk Loci.

Circulation. Genomic And Precision Medicine
V Tragante, D Hemerich, M Alshabeeb, I Brænne, H Lempiäinen, RS Patel, HM den Ruijter, MR Barnes, JH Moore, H Schunkert, J Erdmann, FW Asselbergs
Publication Date: 2018-08

Variant appearance in text: rs6544713
PubMed Link: 30354342
Variant Present in the following documents:
  • Main text
  • NIHMS976601-supplement-001977_-_Supplemental_Material.pdf
  • nihms976601.pdf
View BVdb publication page



Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus.

Scientific Reports
M Munz, GM Richter, BG Loos, S Jepsen, K Divaris, S Offenbacher, A Teumer, B Holtfreter, T Kocher, C Bruckmann, Y Jockel-Schneider, C Graetz, L Munoz, A Bhandari, S Tennstedt, I Staufenbiel, N van der Velde, AG Uitterlinden, LCPGM de Groot, J Wellmann, K Berger, B Krone, P Hoffmann, M Laudes, W Lieb, A Franke, H Dommisch, J Erdmann, AS Schaefer
Publication Date: 2018-09-12

Variant appearance in text: rs6544713
PubMed Link: 30209331
Variant Present in the following documents:
  • 41598_2018_31980_MOESM2_ESM.xlsx
View BVdb publication page



Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.

Bmj (Clinical Research Ed.)
K Trajanoska, JA Morris, L Oei, HF Zheng, DM Evans, DP Kiel, C Ohlsson, JB Richards, F Rivadeneira,
Publication Date: 2018-08-29

Variant appearance in text: rs6544713
PubMed Link: 30158200
Variant Present in the following documents:
  • trak043508.ww.pdf
View BVdb publication page



Genome-wide association study of coronary artery disease among individuals with diabetes: the UK Biobank.

Diabetologia
T Fall, S Gustafsson, M Orho-Melander, E Ingelsson
Publication Date: 2018-10

Variant appearance in text: rs6544713
PubMed Link: 30003307
Variant Present in the following documents:
  • 125_2018_4686_MOESM1_ESM.pdf
View BVdb publication page



Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.

Nature Genetics
ER Gamazon, AV Segrè, M van de Bunt, X Wen, HS Xi, F Hormozdiari, H Ongen, A Konkashbaev, EM Derks, F Aguet, J Quan, , DL Nicolae, E Eskin, M Kellis, G Getz, MI McCarthy, ET Dermitzakis, NJ Cox, KG Ardlie
Publication Date: 2018-07

Variant appearance in text: rs6544713
PubMed Link: 29955180
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Risk Score for Coronary Heart Disease Modifies the Elevated Risk by Cigarette Smoking for Disease Incidence.

Circulation. Genomic And Precision Medicine
G Hindy, F Wiberg, P Almgren, O Melander, M Orho-Melander
Publication Date: 2018-01

Variant appearance in text: rs6544713
PubMed Link: 29874179
Variant Present in the following documents:
  • hcg-11-e001856-s001.pdf
View BVdb publication page



Evaluation of 71 Coronary Artery Disease Risk Variants in a Multiethnic Cohort.

Frontiers In Cardiovascular Medicine
W Ke, KA Rand, DV Conti, VW Setiawan, DO Stram, L Wilkens, L Le Marchand, TL Assimes, CA Haiman
Publication Date: 2018

Variant appearance in text: rs6544713
PubMed Link: 29740590
Variant Present in the following documents:
  • Main text
  • Table3.xlsx
  • Table6.xlsx
  • Table7.xlsx
View BVdb publication page



Weighted Multi-marker Genetic Risk Scores for Incident Coronary Heart Disease among Individuals of African, Latino and East-Asian Ancestry.

Scientific Reports
C Iribarren, M Lu, E Jorgenson, M Martínez, C Lluis-Ganella, I Subirana, E Salas, R Elosua
Publication Date: 2018-05-01

Variant appearance in text: rs6544713
PubMed Link: 29717161
Variant Present in the following documents:
  • 41598_2018_25128_MOESM1_ESM.pdf
View BVdb publication page



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

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

Variant appearance in text: rs6544713
PubMed Link: 29531354
Variant Present in the following documents:
  • NIHMS959658-supplement-Supplementary_Table_27.xlsx
View BVdb publication page



Genome-wide analysis yields new loci associating with aortic valve stenosis.

Nature Communications
A Helgadottir, G Thorleifsson, S Gretarsdottir, OA Stefansson, V Tragante, RB Thorolfsdottir, I Jonsdottir, T Bjornsson, V Steinthorsdottir, N Verweij, JB Nielsen, W Zhou, L Folkersen, A Martinsson, M Heydarpour, S Prakash, G Oskarsson, T Gudbjartsson, A Geirsson, I Olafsson, EL Sigurdsson, P Almgren, O Melander, A Franco-Cereceda, A Hamsten, L Fritsche, M Lin, B Yang, W Hornsby, D Guo, CM Brummett, G Abecasis, M Mathis, D Milewicz, SC Body, P Eriksson, CJ Willer, K Hveem, C Newton-Cheh, JG Smith, R Danielsen, G Thorgeirsson, U Thorsteinsdottir, DF Gudbjartsson, H Holm, K Stefansson
Publication Date: 2018-03-07

Variant appearance in text: rs6544713
PubMed Link: 29511194
Variant Present in the following documents:
  • 41467_2018_3252_MOESM7_ESM.xlsx
  • 41467_2018_3252_MOESM8_ESM.xlsx
View BVdb publication page



Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

Database : The Journal Of Biological Databases And Curation
AN Cheema, SL Rosenthal, M Ilyas Kamboh
Publication Date: 2017-01-01

Variant appearance in text: rs6544713
PubMed Link: 29220472
Variant Present in the following documents:
  • bax078_supp_table_s2.docx
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: rs6544713
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.xlsx
View BVdb publication page



Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk.

American Journal Of Human Genetics
TG Richardson, J Zheng, G Davey Smith, NJ Timpson, TR Gaunt, CL Relton, G Hemani
Publication Date: 2017-10-05

Variant appearance in text: rs6544713
PubMed Link: 28985495
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



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

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

Variant appearance in text: rs6544713
PubMed Link: 28772107
Variant Present in the following documents:
  • NIHMS896854-supplement.pdf
View BVdb publication page



Coronary artery disease-associated genetic variants and biomarkers of inflammation.

Plos One
MK Christiansen, SB Larsen, M Nyegaard, S Neergaard-Petersen, R Ajjan, M Würtz, EL Grove, AM Hvas, HK Jensen, SD Kristensen
Publication Date: 2017

Variant appearance in text: rs6544713
PubMed Link: 28686695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy.

Plos Genetics
SG Byars, QQ Huang, LA Gray, A Bakshi, S Ripatti, G Abraham, SC Stearns, M Inouye
Publication Date: 2017-06

Variant appearance in text: rs6544713
PubMed Link: 28640878
Variant Present in the following documents:
  • pgen.1006328.s006.pdf
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: rs6544713
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Genetic susceptibility to cardiovascular disease and risk of dementia.

Translational Psychiatry
IK Karlsson, A Ploner, C Song, M Gatz, NL Pedersen, S Hägg
Publication Date: 2017-05-30

Variant appearance in text: rs6544713
PubMed Link: 28556832
Variant Present in the following documents:
  • tp2017110x1.docx
View BVdb publication page



Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.

Nature Genetics
JMM Howson, W Zhao, DR Barnes, WK Ho, R Young, DS Paul, LL Waite, DF Freitag, EB Fauman, EL Salfati, BB Sun, JD Eicher, AD Johnson, WHH Sheu, SF Nielsen, WY Lin, P Surendran, A Malarstig, JB Wilk, A Tybjærg-Hansen, KL Rasmussen, PR Kamstrup, P Deloukas, J Erdmann, S Kathiresan, NJ Samani, H Schunkert, H Watkins, , R Do, DJ Rader, JA Johnson, SL Hazen, AA Quyyumi, JA Spertus, CJ Pepine, N Franceschini, A Justice, AP Reiner, S Buyske, LA Hindorff, CL Carty, KE North, C Kooperberg, E Boerwinkle, K Young, M Graff, U Peters, D Absher, CA Hsiung, WJ Lee, KD Taylor, YH Chen, IT Lee, X Guo, RH Chung, YJ Hung, JI Rotter, JJ Juang, T Quertermous, TD Wang, A Rasheed, P Frossard, DS Alam, AAS Majumder, E Di Angelantonio, R Chowdhury, , YI Chen, BG Nordestgaard, TL Assimes, J Danesh, AS Butterworth, D Saleheen
Publication Date: 2017-07

Variant appearance in text: rs6544713
PubMed Link: 28530674
Variant Present in the following documents:
  • NIHMS73649-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions.

Circulation
D Saleheen, W Zhao, R Young, CP Nelson, W Ho, JF Ferguson, A Rasheed, K Ou, ST Nurnberg, RC Bauer, A Goel, R Do, AFR Stewart, J Hartiala, W Zhang, G Thorleifsson, RJ Strawbridge, J Sinisalo, S Kanoni, S Sedaghat, E Marouli, K Kristiansson, J Hua Zhao, R Scott, D Gauguier, SH Shah, AV Smith, N van Zuydam, AJ Cox, C Willenborg, T Kessler, L Zeng, MA Province, A Ganna, L Lind, NL Pedersen, CC White, A Joensuu, M Edi Kleber, AS Hall, W März, V Salomaa, C O'Donnell, E Ingelsson, MF Feitosa, J Erdmann, DW Bowden, CNA Palmer, V Gudnason, U Faire, P Zalloua, N Wareham, JR Thompson, K Kuulasmaa, G Dedoussis, M Perola, A Dehghan, JC Chambers, J Kooner, H Allayee, P Deloukas, R McPherson, K Stefansson, H Schunkert, S Kathiresan, M Farrall, P Marcel Frossard, DJ Rader, NJ Samani, MP Reilly
Publication Date: 2017-06-13

Variant appearance in text: rs6544713
PubMed Link: 28461624
Variant Present in the following documents:
  • NIHMS870560-supplement-Final_Supplementary_Material.pdf
View BVdb publication page



Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration.

Ophthalmology
S Burgess, G Davey Smith
Publication Date: 2017-08

Variant appearance in text: rs6544713
PubMed Link: 28456421
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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

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

Variant appearance in text: rs6544713
PubMed Link: 28426890
Variant Present in the following documents:
  • ddw358_supp.docx
View BVdb publication page



Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Atherosclerosis
M Futema, JA Cooper, M Charakida, C Boustred, N Sattar, J Deanfield, DA Lawlor, NJ Timpson, , SE Humphries, AD Hingorani
Publication Date: 2017-05

Variant appearance in text: rs6544713
PubMed Link: 28349888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
R Nagy, TS Boutin, J Marten, JE Huffman, SM Kerr, A Campbell, L Evenden, J Gibson, C Amador, DM Howard, P Navarro, A Morris, IJ Deary, LJ Hocking, S Padmanabhan, BH Smith, P Joshi, JF Wilson, ND Hastie, AF Wright, AM McIntosh, DJ Porteous, CS Haley, V Vitart, C Hayward
Publication Date: 2017-03-07

Variant appearance in text: rs6544713
PubMed Link: 28270201
Variant Present in the following documents:
  • 13073_2017_414_MOESM11_ESM.xlsx
View BVdb publication page



Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study.

Scientific Reports
S Christie, S Robiou-du-Pont, SS Anand, KM Morrison, SD McDonald, G Paré, SA Atkinson, KK Teo, D Meyre
Publication Date: 2017-03-06

Variant appearance in text: rs6544713
PubMed Link: 28250428
Variant Present in the following documents:
  • 41598_2017_102_MOESM1_ESM.pdf
  • aaaaaMain text
View BVdb publication page



Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Journal Of The American College Of Cardiology
TR Webb, J Erdmann, KE Stirrups, NO Stitziel, NG Masca, H Jansen, S Kanoni, CP Nelson, PG Ferrario, IR König, JD Eicher, AD Johnson, SE Hamby, C Betsholtz, A Ruusalepp, O Franzén, EE Schadt, JL Björkegren, PE Weeke, PL Auer, UM Schick, Y Lu, H Zhang, MP Dube, A Goel, M Farrall, GM Peloso, HH Won, R Do, E van Iperen, J Kruppa, A Mahajan, RA Scott, C Willenborg, PS Braund, JC van Capelleveen, AS Doney, LA Donnelly, R Asselta, PA Merlini, S Duga, N Marziliano, JC Denny, C Shaffer, NE El-Mokhtari, A Franke, S Heilmann, C Hengstenberg, P Hoffmann, OL Holmen, K Hveem, JH Jansson, KH Jöckel, T Kessler, J Kriebel, KL Laugwitz, E Marouli, N Martinelli, MI McCarthy, NR Van Zuydam, C Meisinger, T Esko, E Mihailov, SA Escher, M Alver, S Moebus, AD Morris, J Virtamo, M Nikpay, O Olivieri, S Provost, A AlQarawi, NR Robertson, KO Akinsansya, DF Reilly, TF Vogt, W Yin, FW Asselbergs, C Kooperberg, RD Jackson, E Stahl, M Müller-Nurasyid, K Strauch, TV Varga, M Waldenberger, , L Zeng, R Chowdhury, V Salomaa, I Ford, JW Jukema, P Amouyel, J Kontto, , BG Nordestgaard, J Ferrières, D Saleheen, N Sattar, P Surendran, A Wagner, R Young, JM Howson, AS Butterworth, J Danesh, D Ardissino, EP Bottinger, R Erbel, PW Franks, D Girelli, AS Hall, GK Hovingh, A Kastrati, W Lieb, T Meitinger, WE Kraus, SH Shah, R McPherson, M Orho-Melander, O Melander, A Metspalu, CN Palmer, A Peters, DJ Rader, MP Reilly, RJ Loos, AP Reiner, DM Roden, JC Tardif, JR Thompson, NJ Wareham, H Watkins, CJ Willer, NJ Samani, H Schunkert, P Deloukas, S Kathiresan,
Publication Date: 2017-02-21

Variant appearance in text: rs6544713
PubMed Link: 28209224
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page



Heart Disease and Stroke Statistics-2017 Update: A Report From the American Heart Association.

Circulation
EJ Benjamin, MJ Blaha, SE Chiuve, M Cushman, SR Das, R Deo, SD de Ferranti, J Floyd, M Fornage, C Gillespie, CR Isasi, MC Jiménez, LC Jordan, SE Judd, D Lackland, JH Lichtman, L Lisabeth, S Liu, CT Longenecker, RH Mackey, K Matsushita, D Mozaffarian, ME Mussolino, K Nasir, RW Neumar, L Palaniappan, DK Pandey, RR Thiagarajan, MJ Reeves, M Ritchey, CJ Rodriguez, GA Roth, WD Rosamond, C Sasson, A Towfighi, CW Tsao, MB Turner, SS Virani, JH Voeks, JZ Willey, JT Wilkins, JH Wu, HM Alger, SS Wong, P Muntner,
Publication Date: 2017-03-07

Variant appearance in text: rs6544713
PubMed Link: 28122885
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.

Genome Biology
R Joehanes, X Zhang, T Huan, C Yao, SX Ying, QT Nguyen, CY Demirkale, ML Feolo, NR Sharopova, A Sturcke, AA Schäffer, N Heard-Costa, H Chen, PC Liu, R Wang, KA Woodhouse, K Tanriverdi, JE Freedman, N Raghavachari, J Dupuis, AD Johnson, CJ O'Donnell, D Levy, PJ Munson
Publication Date: 2017-01-25

Variant appearance in text: rs6544713
PubMed Link: 28122634
Variant Present in the following documents:
  • 13059_2016_1142_MOESM1_ESM.pdf
View BVdb publication page



Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

Circulation. Cardiovascular Genetics
P Natarajan, JC Bis, LF Bielak, AJ Cox, M Dörr, MF Feitosa, N Franceschini, X Guo, SJ Hwang, A Isaacs, MA Jhun, M Kavousi, R Li-Gao, LP Lyytikäinen, RE Marioni, U Schminke, NO Stitziel, H Tada, J van Setten, AV Smith, D Vojinovic, LR Yanek, J Yao, LM Yerges-Armstrong, N Amin, U Baber, IB Borecki, JJ Carr, YI Chen, LA Cupples, PA de Jong, H de Koning, BD de Vos, A Demirkan, V Fuster, OH Franco, MO Goodarzi, TB Harris, SR Heckbert, G Heiss, U Hoffmann, A Hofman, I Išgum, JW Jukema, M Kähönen, SL Kardia, BG Kral, LJ Launer, J Massaro, R Mehran, BD Mitchell, TH Mosley, R de Mutsert, AB Newman, KD Nguyen, KE North, JR O'Connell, M Oudkerk, JS Pankow, GM Peloso, W Post, MA Province, LM Raffield, OT Raitakari, DF Reilly, F Rivadeneira, F Rosendaal, S Sartori, KD Taylor, A Teumer, S Trompet, ST Turner, AG Uitterlinden, D Vaidya, A van der Lugt, U Völker, JM Wardlaw, CL Wassel, S Weiss, MK Wojczynski, DM Becker, LC Becker, E Boerwinkle, DW Bowden, IJ Deary, A Dehghan, SB Felix, V Gudnason, T Lehtimäki, R Mathias, DO Mook-Kanamori, BM Psaty, DJ Rader, JI Rotter, JG Wilson, CM van Duijn, H Völzke, S Kathiresan, PA Peyser, CJ O'Donnell,
Publication Date: 2016-12

Variant appearance in text: rs6544713
PubMed Link: 27872105
Variant Present in the following documents:
  • NIHMS853695-supplement-001572_-_Supplemental_Material.pdf
View BVdb publication page



Genome-wide RNAi screen reveals ALK1 mediates LDL uptake and transcytosis in endothelial cells.

Nature Communications
JR Kraehling, JH Chidlow, C Rajagopal, MG Sugiyama, JW Fowler, MY Lee, X Zhang, CM Ramírez, EJ Park, B Tao, K Chen, L Kuruvilla, B Larriveé, E Folta-Stogniew, R Ola, N Rotllan, W Zhou, MW Nagle, J Herz, KJ Williams, A Eichmann, WL Lee, C Fernández-Hernando, WC Sessa
Publication Date: 2016-11-21

Variant appearance in text: rs6544713
PubMed Link: 27869117
Variant Present in the following documents:
  • ncomms13516-s6.xlsx
View BVdb publication page



Coronary Artery Calcification and Rheumatoid Arthritis: Lack of Relationship to Risk Alleles for Coronary Artery Disease in the General Population.

Arthritis & Rheumatology (Hoboken, N.J.)
I Ferraz-Amaro, R Winchester, PK Gregersen, RJ Reynolds, MC Wasko, A Oeser, CP Chung, CM Stein, JT Giles, JM Bathon
Publication Date: 2017-03

Variant appearance in text: rs6544713
PubMed Link: 27696788
Variant Present in the following documents:
  • Main text
  • NIHMS880290-supplement-Supp_TableS1.docx
View BVdb publication page



Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

Nature Genetics
V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri, K Walter, JL Min, L Chen, W Astle, M Cocca, P Deelen, H Elding, AE Farmaki, CS Franklin, M Franberg, TR Gaunt, A Hofman, T Jiang, ME Kleber, G Lachance, J Luan, G Malerba, A Matchan, D Mead, Y Memari, I Ntalla, K Panoutsopoulou, R Pazoki, JRB Perry, F Rivadeneira, M Sabater-Lleal, B Sennblad, SY Shin, L Southam, M Traglia, F van Dijk, EM van Leeuwen, G Zaza, W Zhang, , N Amin, A Butterworth, JC Chambers, G Dedoussis, A Dehghan, OH Franco, L Franke, M Frontini, G Gambaro, P Gasparini, A Hamsten, A Issacs, JS Kooner, C Kooperberg, C Langenberg, W Marz, RA Scott, MA Swertz, D Toniolo, AG Uitterlinden, CM van Duijn, H Watkins, E Zeggini, MT Maurano, NJ Timpson, AP Reiner, PL Auer, N Soranzo
Publication Date: 2016-11

Variant appearance in text: rs6544713
PubMed Link: 27668658
Variant Present in the following documents:
  • NIHMS71079-supplement-Supplementary_Data.pdf
View BVdb publication page



Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases.

Science (New York, N.Y.)
O Franzén, R Ermel, A Cohain, NK Akers, A Di Narzo, HA Talukdar, H Foroughi-Asl, C Giambartolomei, JF Fullard, K Sukhavasi, S Köks, LM Gan, C Giannarelli, JC Kovacic, C Betsholtz, B Losic, T Michoel, K Hao, P Roussos, J Skogsberg, A Ruusalepp, EE Schadt, JL Björkegren
Publication Date: 2016-08-19

Variant appearance in text: rs6544713
PubMed Link: 27540175
Variant Present in the following documents:
  • NIHMS865440-supplement-Figure_S41.pdf
View BVdb publication page



The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
T Kessler, B Vilne, H Schunkert
Publication Date: 2016-07

Variant appearance in text: rs6544713
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-Genome Sequencing of a Healthy Aging Cohort.

Cell
GA Erikson, DL Bodian, M Rueda, B Molparia, ER Scott, AA Scott-Van Zeeland, SE Topol, NE Wineinger, JE Niederhuber, EJ Topol, A Torkamani
Publication Date: 2016-05-05

Variant appearance in text: rs6544713
PubMed Link: 27114037
Variant Present in the following documents:
  • NIHMS771120-supplement-3.xlsx
View BVdb publication page



From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.

Circulation Research
ST Nurnberg, H Zhang, NJ Hand, RC Bauer, D Saleheen, MP Reilly, DJ Rader
Publication Date: 2016-02-19

Variant appearance in text: rs6544713
PubMed Link: 26892960
Variant Present in the following documents:
  • Main text
View BVdb publication page



Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.

Cardiovascular Drugs And Therapy
Y Guo, MT Garcia-Barrio, L Wang, YE Chen
Publication Date: 2016-02

Variant appearance in text: rs6544713
PubMed Link: 26847647
Variant Present in the following documents:
  • Main text
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: rs6544713
PubMed Link: 26780889
Variant Present in the following documents:
  • srep19429-s2.xls
View BVdb publication page



Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease.

Plos Genetics
HH Won, P Natarajan, A Dobbyn, DM Jordan, P Roussos, K Lage, S Raychaudhuri, E Stahl, R Do
Publication Date: 2015-10

Variant appearance in text: rs6544713
PubMed Link: 26509271
Variant Present in the following documents:
  • pgen.1005622.s009.pdf
  • pgen.1005622.s010.pdf
View BVdb publication page



Susceptibility Loci for Clinical Coronary Artery Disease and Subclinical Coronary Atherosclerosis Throughout the Life-Course.

Circulation. Cardiovascular Genetics
E Salfati, S Nandkeolyar, SP Fortmann, S Sidney, MA Hlatky, T Quertermous, AS Go, C Iribarren, DM Herrington, BA Goldstein, TL Assimes
Publication Date: 2015-12

Variant appearance in text: rs6544713
PubMed Link: 26417035
Variant Present in the following documents:
  • Main text
  • NIHMS727191-supplement-001071_-_PAP.pdf
  • NIHMS727191-supplement-001071_-_Supplemental_Material.pdf
View BVdb publication page



A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

Nature Genetics
M Nikpay, A Goel, HH Won, LM Hall, C Willenborg, S Kanoni, D Saleheen, T Kyriakou, CP Nelson, JC Hopewell, TR Webb, L Zeng, A Dehghan, M Alver, SM Armasu, K Auro, A Bjonnes, DI Chasman, S Chen, I Ford, N Franceschini, C Gieger, C Grace, S Gustafsson, J Huang, SJ Hwang, YK Kim, ME Kleber, KW Lau, X Lu, Y Lu, LP Lyytikäinen, E Mihailov, AC Morrison, N Pervjakova, L Qu, LM Rose, E Salfati, R Saxena, M Scholz, AV Smith, E Tikkanen, A Uitterlinden, X Yang, W Zhang, W Zhao, M de Andrade, PS de Vries, NR van Zuydam, SS Anand, L Bertram, F Beutner, G Dedoussis, P Frossard, D Gauguier, AH Goodall, O Gottesman, M Haber, BG Han, J Huang, S Jalilzadeh, T Kessler, IR König, L Lannfelt, W Lieb, L Lind, CM Lindgren, ML Lokki, PK Magnusson, NH Mallick, N Mehra, T Meitinger, FU Memon, AP Morris, MS Nieminen, NL Pedersen, A Peters, LS Rallidis, A Rasheed, M Samuel, SH Shah, J Sinisalo, KE Stirrups, S Trompet, L Wang, KS Zaman, D Ardissino, E Boerwinkle, IB Borecki, EP Bottinger, JE Buring, JC Chambers, R Collins, LA Cupples, J Danesh, I Demuth, R Elosua, SE Epstein, T Esko, MF Feitosa, OH Franco, MG Franzosi, CB Granger, D Gu, V Gudnason, AS Hall, A Hamsten, TB Harris, SL Hazen, C Hengstenberg, A Hofman, E Ingelsson, C Iribarren, JW Jukema, PJ Karhunen, BJ Kim, JS Kooner, IJ Kullo, T Lehtimäki, RJF Loos, O Melander, A Metspalu, W März, CN Palmer, M Perola, T Quertermous, DJ Rader, PM Ridker, S Ripatti, R Roberts, V Salomaa, DK Sanghera, SM Schwartz, U Seedorf, AF Stewart, DJ Stott, J Thiery, PA Zalloua, CJ O'Donnell, MP Reilly, TL Assimes, JR Thompson, J Erdmann, R Clarke, H Watkins, S Kathiresan, R McPherson, P Deloukas, H Schunkert, NJ Samani, M Farrall
Publication Date: 2015-10

Variant appearance in text: rs6544713
PubMed Link: 26343387
Variant Present in the following documents:
  • NIHMS64693-supplement-Tables.xlsx
View BVdb publication page



Prediction of Causal Candidate Genes in Coronary Artery Disease Loci.

Arteriosclerosis, Thrombosis, And Vascular Biology
I Brænne, M Civelek, B Vilne, A Di Narzo, AD Johnson, Y Zhao, B Reiz, V Codoni, TR Webb, H Foroughi Asl, SE Hamby, L Zeng, DA Trégouët, K Hao, EJ Topol, EE Schadt, X Yang, NJ Samani, JL Björkegren, J Erdmann, H Schunkert, AJ Lusis,
Publication Date: 2015-10

Variant appearance in text: rs6544713
PubMed Link: 26293461
Variant Present in the following documents:
  • NIHMS714198-supplement-4.xlsx
  • NIHMS714198-supplement-7.xlsx
  • NIHMS714198-supplement-8.xlsx
View BVdb publication page



The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.

Plos One
A Ferrarini, L Xumerle, F Griggio, M Garonzi, C Cantaloni, C Centomo, SM Vargas, P Descombes, J Marquis, S Collino, C Franceschi, P Garagnani, BA Salisbury, JM Harvey, M Delledonne
Publication Date: 2015

Variant appearance in text: rs6544713
PubMed Link: 26147798
Variant Present in the following documents:
  • pone.0132180.s006.xlsx
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: rs6544713
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: rs6544713
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Tobacco smoking is associated with methylation of genes related to coronary artery disease.

Clinical Epigenetics
RV Steenaard, S Ligthart, L Stolk, MJ Peters, JB van Meurs, AG Uitterlinden, A Hofman, OH Franco, A Dehghan
Publication Date: 2015

Variant appearance in text: rs6544713
PubMed Link: 26015811
Variant Present in the following documents:
  • 13148_2015_88_MOESM1_ESM.xlsx
View BVdb publication page



Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg
S Rodriguez, TR Gaunt, Y Guo, J Zheng, MR Barnes, W Tang, F Danish, A Johnson, BA Castillo, YR Li, H Hakonarson, SG Buxbaum, T Palmer, MY Tsai, LA Lange, S Ebrahim, G Davey Smith, DA Lawlor, AR Folsom, R Hoogeveen, A Reiner, B Keating, IN Day
Publication Date: 2016-01

Variant appearance in text: rs6544713
PubMed Link: 25920552
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common sequence variants associated with coronary artery disease correlate with the extent of coronary atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology
E Bjornsson, DF Gudbjartsson, A Helgadottir, T Gudnason, T Gudbjartsson, K Eyjolfsson, RS Patel, N Ghasemzadeh, G Thorleifsson, AA Quyyumi, U Thorsteinsdottir, G Thorgeirsson, K Stefansson
Publication Date: 2015-06

Variant appearance in text: rs6544713
PubMed Link: 25882067
Variant Present in the following documents:
  • NIHMS678784-supplement-Supplemental_Material.pdf
View BVdb publication page



Genome-wide association studies of late-onset cardiovascular disease.

Journal Of Molecular And Cellular Cardiology
JG Smith, C Newton-Cheh
Publication Date: 2015-06

Variant appearance in text: rs6544713
PubMed Link: 25870159
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries.

Arteriosclerosis, Thrombosis, And Vascular Biology
M Beaudoin, RM Gupta, HH Won, KS Lo, R Do, CA Henderson, C Lavoie-St-Amour, S Langlois, D Rivas, S Lehoux, S Kathiresan, JC Tardif, K Musunuru, G Lettre
Publication Date: 2015-06

Variant appearance in text: rs6544713
PubMed Link: 25838425
Variant Present in the following documents:
  • NIHMS675689-supplement-Supplemental_material.pdf
View BVdb publication page



Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding.

Plos Genetics
ME Reschen, KJ Gaulton, D Lin, EJ Soilleux, AJ Morris, SS Smyth, CA O'Callaghan
Publication Date: 2015-04

Variant appearance in text: rs6544713
PubMed Link: 25835000
Variant Present in the following documents:
  • pgen.1005061.s008.xlsx
View BVdb publication page



GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb.

Atherosclerosis
M den Hoed, RJ Strawbridge, P Almgren, S Gustafsson, T Axelsson, G Engström, U de Faire, B Hedblad, SE Humphries, CM Lindgren, AP Morris, G Östling, AC Syvänen, E Tremoli, A Hamsten, E Ingelsson, O Melander, L Lind
Publication Date: 2015-04

Variant appearance in text: rs6544713
PubMed Link: 25682028
Variant Present in the following documents:
  • NIHMS73492-supplement-Supplement.pdf
View BVdb publication page



Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?

Atherosclerosis
M Futema, M Kumari, C Boustred, M Kivimaki, SE Humphries
Publication Date: 2015-04

Variant appearance in text: rs6544713
PubMed Link: 25682026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of gene-gene interactions among common variants in candidate cardiovascular genes in coronary artery disease.

Plos One
MD Musameh, WY Wang, CP Nelson, C Lluís-Ganella, R Debiec, I Subirana, R Elosua, AJ Balmforth, SG Ball, AS Hall, S Kathiresan, JR Thompson, G Lucas, NJ Samani, M Tomaszewski
Publication Date: 2015

Variant appearance in text: rs6544713
PubMed Link: 25658981
Variant Present in the following documents:
  • pone.0117684.s001.docx
View BVdb publication page



Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study.

Plos One
N Franceschini, Y Hu, AP Reiner, S Buyske, M Nalls, LR Yanek, Y Li, LA Hindorff, SA Cole, BV Howard, JM Stafford, CL Carty, P Sethupathy, LW Martin, DY Lin, KC Johnson, LC Becker, KE North, A Dehghan, JC Bis, Y Liu, P Greenland, JE Manson, N Maeda, M Garcia, TB Harris, DM Becker, C O'Donnell, G Heiss, C Kooperberg, E Boerwinkle
Publication Date: 2014

Variant appearance in text: rs6544713
PubMed Link: 25542012
Variant Present in the following documents:
  • Main text
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: rs6544713
PubMed Link: 25474351
Variant Present in the following documents:
  • pgen.1004678.s007.xlsx
View BVdb publication page



Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Nature Genetics
S Debette, Y Kamatani, TM Metso, M Kloss, G Chauhan, ST Engelter, A Pezzini, V Thijs, HS Markus, M Dichgans, C Wolf, R Dittrich, E Touzé, AM Southerland, Y Samson, S Abboud, Y Béjot, V Caso, A Bersano, A Gschwendtner, M Sessa, J Cole, C Lamy, E Medeiros, S Beretta, LH Bonati, AJ Grau, P Michel, JJ Majersik, P Sharma, L Kalashnikova, M Nazarova, L Dobrynina, E Bartels, B Guillon, EG van den Herik, I Fernandez-Cadenas, K Jood, MA Nalls, FE De Leeuw, C Jern, YC Cheng, I Werner, AJ Metso, C Lichy, PA Lyrer, T Brandt, GB Boncoraglio, HE Wichmann, C Gieger, AD Johnson, T Böttcher, M Castellano, D Arveiler, MA Ikram, MM Breteler, A Padovani, JF Meschia, G Kuhlenbäumer, A Rolfs, BB Worrall, , EB Ringelstein, D Zelenika, T Tatlisumak, M Lathrop, D Leys, P Amouyel, J Dallongeville,
Publication Date: 2015-01

Variant appearance in text: rs6544713
PubMed Link: 25420145
Variant Present in the following documents:
  • NIHMS940559-supplement-supplement.pdf
View BVdb publication page



Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry
M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries
Publication Date: 2015-01

Variant appearance in text: rs6544713
PubMed Link: 25414277
Variant Present in the following documents:
  • Main text
  • NIHMS63163-supplement-Supplementary_Data.docx
View BVdb publication page



Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip.

Frontiers In Genetics
A Parihar, GC Wood, X Chu, Q Jin, G Argyropoulos, CD Still, AR Shuldiner, BD Mitchell, GS Gerhard
Publication Date: 2014

Variant appearance in text: rs6544713
PubMed Link: 25147553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: rs6544713
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Genetics of coronary artery disease: an update.

Methodist Debakey Cardiovascular Journal
R Roberts
Publication Date: 2014

Variant appearance in text: rs6544713
PubMed Link: 24932356
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.

European Journal Of Human Genetics : Ejhg
M Hirokawa, H Morita, T Tajima, A Takahashi, K Ashikawa, F Miya, D Shigemizu, K Ozaki, Y Sakata, D Nakatani, S Suna, Y Imai, T Tanaka, T Tsunoda, K Matsuda, T Kadowaki, Y Nakamura, R Nagai, I Komuro, M Kubo
Publication Date: 2015-03

Variant appearance in text: rs6544713
PubMed Link: 24916648
Variant Present in the following documents:
  • ejhg2014110x4.pdf
View BVdb publication page



Current Insights into the Joint Genetic Basis of Type 2 Diabetes and Coronary Heart Disease.

Current Cardiovascular Risk Reports
M Dauriz, JB Meigs
Publication Date: 2014-01-01

Variant appearance in text: rs6544713
PubMed Link: 24729826
Variant Present in the following documents:
  • Main text
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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: rs6544713
PubMed Link: 24622110
Variant Present in the following documents:
  • Main text
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
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Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants.

The Application Of Clinical Genetics
S Sayols-Baixeras, C Lluís-Ganella, G Lucas, R Elosua
Publication Date: 2014

Variant appearance in text: rs6544713
PubMed Link: 24520200
Variant Present in the following documents:
  • Main text
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Heart disease and stroke statistics--2014 update: a report from the American Heart Association.

Circulation
AS Go, D Mozaffarian, VL Roger, EJ Benjamin, JD Berry, MJ Blaha, S Dai, ES Ford, CS Fox, S Franco, HJ Fullerton, C Gillespie, SM Hailpern, JA Heit, VJ Howard, MD Huffman, SE Judd, BM Kissela, SJ Kittner, DT Lackland, JH Lichtman, LD Lisabeth, RH Mackey, DJ Magid, GM Marcus, A Marelli, DB Matchar, DK McGuire, ER Mohler, CS Moy, ME Mussolino, RW Neumar, G Nichol, DK Pandey, NP Paynter, MJ Reeves, PD Sorlie, J Stein, A Towfighi, TN Turan, SS Virani, ND Wong, D Woo, MB Turner,
Publication Date: 2014-01-21

Variant appearance in text: rs6544713
PubMed Link: 24352519
Variant Present in the following documents:
  • Main text
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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology
JC Denny, L Bastarache, MD Ritchie, RJ Carroll, R Zink, JD Mosley, JR Field, JM Pulley, AH Ramirez, E Bowton, MA Basford, DS Carrell, PL Peissig, AN Kho, JA Pacheco, LV Rasmussen, DR Crosslin, PK Crane, J Pathak, SJ Bielinski, SA Pendergrass, H Xu, LA Hindorff, R Li, TA Manolio, CG Chute, RL Chisholm, EB Larson, GP Jarvik, MH Brilliant, CA McCarty, IJ Kullo, JL Haines, DC Crawford, DR Masys, DM Roden
Publication Date: 2013-12

Variant appearance in text: rs6544713
PubMed Link: 24270849
Variant Present in the following documents:
  • NIHMS561785-supplement-supplementary_data.pdf
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Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

Stroke
M Dichgans, R Malik, IR König, J Rosand, R Clarke, S Gretarsdottir, G Thorleifsson, BD Mitchell, TL Assimes, C Levi, CJ O'Donnell, M Fornage, U Thorsteinsdottir, BM Psaty, C Hengstenberg, S Seshadri, J Erdmann, JC Bis, A Peters, GB Boncoraglio, W März, JF Meschia, S Kathiresan, MA Ikram, R McPherson, K Stefansson, C Sudlow, MP Reilly, JR Thompson, P Sharma, JC Hopewell, JC Chambers, H Watkins, PM Rothwell, R Roberts, HS Markus, NJ Samani, M Farrall, H Schunkert, , , ,
Publication Date: 2014-01

Variant appearance in text: rs6544713
PubMed Link: 24262325
Variant Present in the following documents:
  • NIHMS543063-supplement-Supplementary_Tables.pdf
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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: rs6544713
PubMed Link: 24256507
Variant Present in the following documents:
  • 1471-2350-14-120-S1.doc
  • aaaaaMain text
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000272286.2 c.322+431T>C - intron_variant - 3/12
NM_001357321.2 c.322+431T>C - intron_variant - 3/12
NM_022437.3 c.322+431T>C - intron_variant - 3/12