Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease

American Journal of Clinical Nutrition

Volumn 98, Issue 3, 2013, Pages 668-676

  Van Meurs, Joyce B J ^a,d   Pare, Guillaume ^e   Schwartz, Stephen M ^f   Hazra, Aditi ^g   Tanaka, Toshiko ^h   Vermeulen, Sita H ⁱ   Cotlarciuc, Ioana ^j   Yuan, Xin ^k,l   Mälarstig, Anders ^m   Bandinelli, Stefania ⁿ   Bis, Joshua C ^y   Blom, Henk ^o   Brown, Morris J ^p   Chen, Constance ^g   Chen, Yii Der ^q   Clarke, Robert J ^r   Dehghan, Abbas ^b   Erdmann, Jeanette ^s   Ferrucci, Luigi ^h   Hamsten, Anders ^m   Hofman, Albert ^b   Hunter, David J ^g   Goel, Anuj ^r   Johnson, Andrew D ^u   Kathiresan, Sekar ^v   Kampman, Ellen ^w   Kiel, Douglas P ^u,x   Kiemeney, Lambertus A L M ⁱ   Chambers, John C ^y   Kraft, Peter ^g   Lindemans, Jan ^c   McKnight, Barbara ^aa   Nelson, Christopher P ^ab,ac   O'Donnell, Christopher J ^u   Psaty, Bruce M ^aa   Ridker, Paul M ^g   Rivadeneira, Fernando ^a,b,d   Rose, Lynda M ^g   Seedorf, Udo ^ad   Siscovick, David S ^y   Schunkert, Heribert ^s   Selhub, Jacob ^t   Ueland, Per M ^ae   Vollenweider, Peter ^l   Waeber, Gérard ^l   Waterworth, Dawn M ^k,l   Watkins, Hugh ^r   Witteman, Jacqueline C M ^b   Den Heijer, Martin ^o   Jacques, Paul ^t,u   Uitterlinden, Andre G ^a,b   Kooner, Jaspal S ^z   Rader, Dan J ^af   Reilly, Muredach P ^af   Mooser, Vincent ^k,l   Chasman, Daniel I ^g   Samani, Nilesh J ^ab,ac,ag   Ahmadi, Kourosh R ^j,ah   more..

^a Internal Medicine   (United States)

^b Departments of Epidemiology and Biostatistics   (United States)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Netherlands Genomics Initiative   (Netherlands)

^e MCMASTER UNIVERSITY   (Canada)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

^h NATIONAL INSTITUTE ON AGING   (United States)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j KING'S COLLEGE LONDON   (United Kingdom)

^k GLAXOSMITHKLINE   (United States)

^l LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^m KAROLINSKA INSTITUTE   (Sweden)

ⁿ Azienda Sanitaria di Firenze   (Italy)

^o VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^p UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^q CEDARS SINAI MEDICAL CENTER   (United States)

^r UNIVERSITY OF OXFORD   (United Kingdom)

^s UNIVERSITY OF LÜBECK   (Germany)

^t TUFTS UNIVERSITY   (United States)

^u NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^v Cardiovascular Research Center   (United States)

^w WAGENINGEN UNIVERSITY   (Netherlands)

^x HARVARD MEDICAL SCHOOL   (United States)

^y Department of Epidemiology and Biostatistics ^*

^z NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^aa UNIVERSITY OF WASHINGTON   (United States)

^ab UNIVERSITY OF LEICESTER   (United Kingdom)

^ac GLENFIELD HOSPITAL   (United Kingdom)

^ad UNIVERSITY OF MÜNSTER   (Germany)

^ae UNIVERSITY OF BERGEN   (Norway)

^af UNIVERSITY OF PENNSYLVANIA   (United States)

^ag Leicester NIHR Biomedical Research Unit in Cardiovascular Disease   (United Kingdom)

^ah UNIVERSITY OF SURREY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HOMOCYSTEINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 4;

ADOLESCENT; ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERHOMOCYSTEINEMIA; MAJOR CLINICAL STUDY; MALE; META ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CORONARY ARTERY DISEASE; GENES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMOCYSTEINE; HUMANS; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 84883163053     PISSN: 00029165     EISSN: 19383207     Source Type: Journal    
DOI: 10.3945/ajcn.112.044545     Document Type: Article

References (47)

1. Wald DS, Law M, Morris JK. Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis. BMJ 2002;325:1202.
2. Casas JP, Bautista LE, Smeeth L, Sharma P, Hingorani AD. Homocysteine and stroke: evidence on a causal link from Mendelian randomisation. Lancet 2005;365:224-32.
3. Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studies. J Thromb Haemost 2005;3:292-9.
4. Nelen WL. Hyperhomocysteinaemia and human reproduction. Clin Chem Lab Med 2001;39:758-63.
5. Morris MS. Homocysteine and Alzheimer's disease. Lancet Neurol 2003;2:425-8.
6. van Meurs JB, Dhonukshe-Rutten RA, Pluijm SM, van der Klift M, de Jonge R, Lindemans J, de Groot LC, Hofman A, Witteman JC, van Leeuwen JP, et al. Homocysteine levels and the risk of osteoporotic fracture. N Engl J Med 2004;350:2033-41.
7. Clarke R, Halsey J, Lewington S, Lonn E, Armitage J, Manson JE, Bonaa KH, Spence JD, Nygard O, Jamison R, et al. Effects of lowering homocysteine levels with B vitamins on cardiovascular disease, cancer, and cause-specific mortality: meta-analysis of 8 randomized trials involving 37 485 individuals. Arch Intern Med 2010;170:1622-31.
8. Tanaka T, Scheet P, Giusti B, Bandinelli S, Piras MG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, et al. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet 2009;84:477-82.
9. Paré G, Chasman DI, Parker AN, Zee RR, Malarstig A, Seedorf U, Collins R, Watkins H, Hamsten A, Miletich JP, et al. Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet 2009;2: 142-50.
10. Hazra A, Kraft P, Lazarus R, Chen C, Chanock SJ, Jacques P, Selhub J, Hunter DJ. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Genet 2009;18:4677-87.
11. Mälarstig A, Buil A, Souto JC, Clarke R, Blanco-Vaca F, Fontcuberta J, Peden J, Andersen M, Silveira A, Barlera S, et al. Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study. Blood 2009;114:1417-22.
12. Lange LA, Croteau-Chonka DC, Marvelle AF, Qin L, Gaulton KJ, Kuzawa CW, McDade TW, Wang Y, Li Y, Levy S, et al. Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. Hum Mol Genet 2010;19:2050-8.
13. Lewis SJ, Ebrahim S, Davey Smith G. Meta-analysis of MTHFR 677C-T polymorphism and coronary heart disease: does totality of evidence support causal role for homocysteine and preventive potential of folate? BMJ 2005;331:1053.
14. Clarke R, Bennett DA, Parish S, Verhoef P, Dotsch-Klerk M, Lathrop M, Xu P, Nordestgaard BG, Holm H, Hopewell JC, et al. Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. PLoS Med 2012;9:e1001177.
15. Preuss M, Konig IR, Thompson JR, Erdmann J, Absher D, Assimes TL, Blankenberg S, Boerwinkle E, Chen L, Cupples LA, et al. Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: a genome-wide association metaanalysis involving more than 22 000 cases and 60 000 controls. Circ Cardiovasc Genet 2010;3:475-83.
16. Chambers JC, Zhao J, Terracciano CM, Bezzina CR, Zhang W, Kaba R, Navaratnarajah M, Lotlikar A, Sehmi JS, Kooner MK, et al. Genetic variation in SCN10A influences cardiac conduction. Nat Genet 2010; 42:149-52.
17. Hofman A, van Duijn CM, Franco OH, Ikram MA, Janssen HL, Klaver CC, Kuipers EJ, Nijsten TE, Stricker BH, Tiemeier H, et al. The Rotterdam Study: 2012 objectives and design update. Eur J Epidemiol 2011;26:657-86.
18. Li M, Boehnke M, Abecasis GR. Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. Am J Hum Genet 2006;78:778-92.
19. Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007;39:906-13.
20. Servin B, Stephens M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet 2007;3:e114.
21. Aulchenko YS, Ripke S, Isaacs A, van Duijn CM. GenABEL: an R library for genome-wide association analysis. Bioinformatics 2007;23: 1294-6.
22. Horne BD, Anderson JL, Carlquist JF, Muhlestein JB, Renlund DG, Bair TL, Pearson RR, Camp NJ. Generating genetic risk scores from intermediate phenotypes for use in association studies of clinically significant endpoints. Ann Hum Genet 2005;69:176-86.
23. Ridker PM, Chasman DI, Zee RY, Parker A, Rose L, Cook NR, Buring JE. Women's Genome Health Study Working G: Rationale, design, and methodology of the Women's Genome Health Study: a genome-wide association study of more than 25,000 initially healthy american women. Clin Chem 2008;54:249-55.
24. Chambers JC, Elliott P, Zabaneh D, Zhang W, Li Y, Froguel P, Balding D, Scott J, Kooner JS. Common genetic variation near MC4R is associated with waist circumference and insulin resistance. Nat Genet 2008;40:716-8.
25. Farrall M, Green FR, Peden JF, Olsson PG, Clarke R, Hellenius ML, Rust S, Lagercrantz J, Franzosi MG, Schulte H, et al. Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. PLoS Genet 2006;2:e72.
26. Minelli C, Thompson JR, Tobin MD, Abrams KR. An integrated approach to the meta-analysis of genetic association studies using Mendelian randomization. Am J Epidemiol 2004;160:445-52.
27. Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PI. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008;24:2938-9.
28. Göring HH, Curran JE, Johnson MP, Dyer TD, Charlesworth J, Cole SA, Jowett JB, Abraham LJ, Rainwater DL, Comuzzie AG, et al. Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet 2007;39:1208-16.
29. Idaghdour Y, Czika W, Shianna KV, Lee SH, Visscher PM, Martin HC, Miclaus K, Jadallah SJ, Goldstein DB, Wolfinger RD, et al. Geographical genomics of human leukocyte gene expression variation in southern Morocco. Nat Genet 2010;42:62-7.
30. Heap GA, Trynka G, Jansen RC, Bruinenberg M, Swertz MA, Dinesen LC, Hunt KA, Wijmenga C, Vanheel DA, Franke L. Complex nature of SNP genotype effects on gene expression in primary human leucocytes. BMC Med Genomics 2009;2:1.
31. Dixon AL, Liang L, Moffatt MF, Chen W, Heath S, Wong KC, Taylor J, Burnett E, Gut I, Farrall M, et al. A genome-wide association study of global gene expression. Nat Genet 2007;39:1202-7.
32. Stranger BE, Nica AC, Forrest MS, Dimas A, Bird CP, Beazley C, Ingle CE, Dunning M, Flicek P, Koller D, et al. Population genomics of human gene expression. Nat Genet 2007;39:1217-24.
33. Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J. Genome-wide analysis of transcript isoform variation in humans. Nat Genet 2008;40:225-31.
34. Heinzen EL, Ge D, Cronin KD, Maia JM, Shianna KV, Gabriel WN, Welsh-Bohmer KA, Hulette CM, Denny TN, Goldstein DB. Tissuespecific genetic control of splicing: implications for the study of complex traits. PLoS Biol 2008;6:e1.
35. Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, Zhu J, Carlson S, Helgason A, Walters GB, Gunnarsdottir S, et al. Genetics of gene expression and its effect on disease. Nature 2008;452:423-8.
36. Inouye M, Silander K, Hamalainen E, Salomaa V, Harald K, Jousilahti P, Mannisto S, Eriksson JG, Saarela J, Ripatti S, et al. An immune response network associated with blood lipid levels. PLoS Genet 2010; 6:e1001113.
37. Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, Holmans P, Rohrer K, Zhao A, Marlowe L, Kaleem M, et al. Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet 2009;84:445-58.
38. Schadt EE, Molony C, Chudin E, Hao K, Yang X, Lum PY, Kasarskis A, Zhang B, Wang S, Suver C, et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol 2008;6:e107.
39. Grundberg E, Kwan T, Ge B, Lam KC, Koka V, Kindmark A, Mallmin H, Dias J, Verlaan DJ, Ouimet M, et al. Population genomics in a disease targeted primary cell model. Genome Res 2009; 19:1942-52.
40. Ding J, Gudjonsson JE, Liang L, Stuart PE, Li Y, Chen W, Weichenthal M, Ellinghaus E, Franke A, Cookson W, et al. Gene expression in skin and lymphoblastoid cells: refined statistical method reveals extensive overlap in cis-eQTL signals. Am J Hum Genet 2010;87: 779-89.
41. Dimas AS, Deutsch S, Stranger BE, Montgomery SB, Borel C, Attar-Cohen H, Ingle C, Beazley C, Gutierrez Arcelus M, Sekowska M, et al. Common regulatory variation impacts gene expression in a cell typedependent manner. Science 2009;325:1246-50.
42. Brattström L, Wilcken DE. Homocysteine and cardiovascular disease: cause or effect? Am J Clin Nutr 2000;72:315-23.
43. Wald DS, Morris JK, Wald NJ. Reconciling the evidence on serum homocysteine and ischaemic heart disease: a meta-analysis. PLoS ONE 2011;6:e16473.
44. Klerk M, Verhoef P, Clarke R, Blom HJ, Kok FJ, Schouten EG. MTHFR 677C→T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA 2002;288:2023-31.
45. Zee RY, Mora S, Cheng S, Erlich HA, Lindpaintner K, Rifai N, Buring JE, Ridker PM. Homocysteine, 5,10-methylenetetrahydrofolate reductase 677C.T polymorphism, nutrient intake, and incident cardiovascular disease in 24,968 initially healthy women. Clin Chem 2007;53:845-51.
46. van Guldener C. Why is homocysteine elevated in renal failure and what can be expected from homocysteine-lowering? Nephrol Dial Transplant 2006;21:1161-6.
47. Potter K, Hankey GJ, Green DJ, Eikelboom JW, Arnolda LF. Homocysteine or renal impairment: which is the real cardiovascular risk factor? Arterioscler Thromb Vasc Biol 2008;28:1158-64.