Recent genome-wide association studies

This is a listing of papers identified as including a primary genome-wide association analysis and excludes replications and other follow-up studies. The list is provided in alphabetical order.

(earlier annotated version of this page available here)

Baum, A. E., Akula, N., Cabanero, M., Cardona, I., Corona, W., Klemens, B., et al. (2007). A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry.  http://dx.doi.org/10.1038/sj.mp.4002012 

Buch, S., Schafmayer, C., Volzke, H., Becker, C., Franke, A., von Eller-Eberstein, H., et al. (2007). A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet, 39(8), 995-999. http://dx.doi.org/10.1038/ng2101 

Coon, K. D., Myers, A. J., Craig, D. W., Webster, J. A., Pearson, J. V., Lince, D. H., et al. (2007). A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. The Journal of clinical psychiatry, 68(4), 613-8.  http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=AbstractPlus&list_uids=17474819 

Cupples, L. A., Arruda, H. T., Benjamin, E. J., D'Agostino, R. B., Demissie, S., DeStefano, A. L., et al. (2007). The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC medical genetics, 8 Suppl 1, S1.  http://dx.doi.org/10.1186/1471-2350-8-S1-S1 

Dixon, A. L., Liang, L., Moffatt, M. F., Chen, W., Heath, S., Wong, K. C. C., et al. (2007). A genome-wide association study of global gene expression. Nature genetics, 39(10), 1202-7.  http://dx.doi.org/10.1038/ng2109  

Dunckley, T., Huentelman, M. J., Craig, D. W., Pearson, J. V., Szelinger, S., Joshipura, K., et al. (2007). Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis. N Engl J Med, NEJMoa070174. http://content.nejm.org/cgi/content/abstract/NEJMoa070174v1 

Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., et al. (2007). Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447(7148), 1087-1093. http://dx.doi.org/10.1038/nature05887 

Fellay, J., Shianna, K. V., Ge, D., Colombo, S., Ledergerber, B., Weale, M., et al. (2007). A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1. Science, 317(5840), 944-947. http://www.sciencemag.org/cgi/content/abstract/317/5840/944 

Florez, J. C., Manning, A. K., Dupuis, J., McAteer, J., Irenze, K., Gianniny, L., et al. (2007). A 100K genome-wide association scan for diabetes and related traits in the Framingham heart study: replication and integration with other genome-wide datasets. Diabetes.  http://dx.doi.org/10.2337/db07-0451 

Fox, C. S., Heard-Costa, N., Cupples, L. A., Dupuis, J., Vasan, R. S., & Atwood, L. D. (2007). Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. BMC medical genetics, 8 Suppl 1, S18.  http://dx.doi.org/10.1186/1471-2350-8-S1-S18 

Franke, A., Hampe, J., Rosenstiel, P., Becker, C., Wagner, F., Häsler, R., et al. (2007). Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS ONE, 2(1), e691.  http://dx.doi.org/10.1371/journal.pone.0000691 

Frayling, T. M., Timpson, N. J., Weedon, M. N., Zeggini, E., Freathy, R. M., Lindgren, C. M., et al. (2007). A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (New York, N.Y.), 316(5826), 889-94.  http://dx.doi.org/10.1126/science.1141634 

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. (2007). Nature, 447(7145), 661-678. http://dx.doi.org/10.1038/nature05911 

Gottlieb, D. J., O'Connor, G. T., & Wilk, J. B. (2007). Genome-wide association of sleep and circadian phenotypes. BMC medical genetics, 8 Suppl 1, S9.  http://dx.doi.org/10.1186/1471-2350-8-S1-S9 

Gudbjartsson, D. F., Arnar, D. O., Helgadottir, A., Gretarsdottir, S., Holm, H., Sigurdsson, A., et al. (2007). Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature, 448(7151), 353-357. http://dx.doi.org/10.1038/nature06007 

Gudmundsson, J., Sulem, P., Manolescu, A., et al. (2007). Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nature genetics, 39(5), 631-7. http://dx.doi.org/10.1038/ng1999

Gudmundsson, J., Sulem, P., Steinthorsdottir, V., et al. (2007). Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet, 39(8), 977-983. http://dx.doi.org/10.1038/ng2062 

Hakonarson, H., Grant, S. F. A., Bradfield, J. P., Marchand, L., Kim, C. E., Glessner, J. T., et al. (2007). A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature, 448(7153), 591-594. http://dx.doi.org/10.1038/nature06010 

Helgadottir, A., Thorleifsson, G., Manolescu, A., Gretarsdottir, S., Blondal, T., Jonasdottir, A., et al. (2007). A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction. Science, 1142842. http://www.sciencemag.org/cgi/content/abstract/1142842v1 

Herbert, A., Lenburg, M. E., Ulrich, D., Gerry, N. P., Schlauch, K., & Christman, M. F. (2007). Open-access database of candidate associations from a genome-wide SNP scan of the Framingham Heart Study. Nature genetics, 39(2), 135-6.  http://dx.doi.org/10.1038/ng0207-135  

Hunter, D. J., Kraft, P., Jacobs, K. B., Cox, D. G., Yeager, M., Hankinson, S. E., et al. (2007). A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet, 39(7), 870-874. http://dx.doi.org/10.1038/ng2075 

Kathiresan, S., Manning, A. K., Demissie, S., D'Agostino, R. B., Surti, A., Guiducci, C., et al. (2007). A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. BMC medical genetics, 8 Suppl 1, S17.  http://dx.doi.org/10.1186/1471-2350-8-S1-S17 

Kiel, D. P., Demissie, S., Dupuis, J., Lunetta, K. L., Murabito, J. M., & Karasik, D. (2007). Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC medical genetics, 8 Suppl 1, S14.  http://dx.doi.org/10.1186/1471-2350-8-S1-S14 

Larson, M. G., Atwood, L. D., Benjamin, E. J., Cupples, L. A., D'Agostino, R. B., Fox, C. S., et al. (2007). Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. BMC medical genetics, 8 Suppl 1, S5.  http://dx.doi.org/10.1186/1471-2350-8-S1-S5 

Lencz, T., Morgan, T. V., Athanasiou, M., Dain, B., Reed, C. R., Kane, J. M., et al. (2007). Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol Psychiatry, 12(6), 572-580. http://dx.doi.org/10.1038/sj.mp.4001983 

Levy, D., Larson, M. G., Benjamin, E. J., Newton-Cheh, C., Wang, T. J., Hwang, S., et al. (2007). Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. BMC medical genetics, 8 Suppl 1, S3.  http://dx.doi.org/10.1186/1471-2350-8-S1-S3 

Libioulle, C., Louis, E., Hansoul, S., Sandor, C., Farnir, F., Franchimont, D., et al. (2007). Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS genetics, 3(4), e58.  http://dx.doi.org/10.1371/journal.pgen.0030058  

Maeda, S., Osawa, N., Hayashi, T., Tsukada, S., Kobayashi, M., & Kikkawa, R. (2007). Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population. Kidney Int, 72(S106), S43-S48. http://dx.doi.org/10.1038/sj.ki.5002385 

Matarín, M., Brown, W. M., Scholz, S., Simón-Sánchez, J., Fung, H., Hernandez, D., et al. (2007). A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet neurology, 6(5), 414-20.  http://dx.doi.org/10.1016/S1474-4422(07)70081-9 

McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., et al. (2007). A common allele on chromosome 9 associated with coronary heart disease. Science (New York, N.Y.), 316(5830), 1488-91.  http://dx.doi.org/10.1126/science.1142447 

Meigs, J. B., Manning, A. K., Fox, C. S., Florez, J. C., Liu, C., Cupples, L. A., et al. (2007). Genome-wide association with diabetes-related traits in the Framingham Heart Study. BMC medical genetics, 8 Suppl 1, S16.  http://dx.doi.org/10.1186/1471-2350-8-S1-S16 

Moffatt, M. F., Kabesch, M., Liang, L., Dixon, A. L., Strachan, D., Heath, S., et al. (2007). Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature, 448(7152), 470-473. http://dx.doi.org/10.1038/nature06014 

Murabito, J. M., Rosenberg, C. L., Finger, D., Kreger, B. E., Levy, D., Splansky, G. L., et al. (2007). A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. BMC medical genetics, 8 Suppl 1, S6.  http://dx.doi.org/10.1186/1471-2350-8-S1-S6 

Newton-Cheh, C., Guo, C., Wang, T. J., O'donnell, C. J., Levy, D., & Larson, M. G. (2007). Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. BMC medical genetics, 8 Suppl 1, S7.  http://dx.doi.org/10.1186/1471-2350-8-S1-S7 

O'Donnell, C. J., Cupples, L. A., D'Agostino, R. B., Fox, C. S., Hoffmann, U., Hwang, S., et al. (2007). Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. BMC medical genetics, 8 Suppl 1, S4.  http://dx.doi.org/10.1186/1471-2350-8-S1-S4 

Plenge, R. M., Cotsapas, C., Davies, L., Price, A. L., de Bakker, P. I. W., Maller, J., et al. (2007). Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet.  http://dx.doi.org/10.1038/ng.2007.27 

Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., et al. (2007). Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nature genetics, 39(5), 596-604. http://dx.doi.org/10.1038/ng2032

Salonen, J. T., Uimari, P., Aalto, J., Pirskanen, M., Kaikkonen, J., Todorova, B., et al. (2007). Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium. American journal of human genetics, 81(2), 338-45.  http://dx.doi.org/10.1086/520599 

Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., et al. (2007). Genomewide Association Analysis of Coronary Artery Disease. N Engl J Med, NEJMoa072366. http://content.nejm.org/cgi/content/abstract/NEJMoa072366v1 

Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I. W., Chen, H., et al. (2007). Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.), 316(5829), 1331-6.  http://dx.doi.org/10.1126/science.1142358 

Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L., et al. (2007). A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (New York, N.Y.), 316(5829), 1341-5.  http://dx.doi.org/10.1126/science.1142382 

Scuteri, A., Sanna, S., Chen, W., Uda, M., Albai, G., Strait, J., et al. (2007). Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits. PLoS Genet, 3(7), e115.  http://dx.doi.org/10.1371/journal.pgen.0030115.eor 

Seshadri, S., DeStefano, A. L., Au, R., Massaro, J. M., Beiser, A. S., Kelly-Hayes, M., et al. (2007). Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. BMC medical genetics, 8 Suppl 1, S15.  http://dx.doi.org/10.1186/1471-2350-8-S1-S15 

Shifman, S., Bhomra, A., Smiley, S., Wray, N. R., James, M. R., Martin, N. G., et al. (2007). A whole genome association study of neuroticism using DNA pooling. Mol Psychiatry. http://dx.doi.org/10.1038/sj.mp.4002048 

Simon-Sanchez, J., Scholz, S., Del Mar Matarin, M., Fung, H., Hernandez, D., Gibbs, J. R., et al. (2007). Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat.  http://dx.doi.org/10.1002/humu.20626 

Stacey, S. N., Manolescu, A., Sulem, P., Rafnar, T., Gudmundsson, J., Gudjonsson, S. A., et al. (2007). Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet, 39(7), 865-869. http://dx.doi.org/10.1038/ng2064 

Stefansson, H., Rye, D. B., Hicks, A., Petursson, H., Ingason, A., Thorgeirsson, T. E., et al. (2007). A Genetic Risk Factor for Periodic Limb Movements in Sleep. N Engl J Med, NEJMoa072743. http://content.nejm.org/cgi/content/abstract/NEJMoa072743v1 

Steinthorsdottir, V., Thorleifsson, G., Reynisdottir, I., Benediktsson, R., Jonsdottir, T., Walters, G. B., et al. (2007). A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nature genetics, 39(6), 770-5.  http://dx.doi.org/10.1038/ng2043  

Stranger, B. E., Nica, A. C., Forrest, M. S., Dimas, A., Bird, C. P., Beazley, C., et al. (2007). Population genomics of human gene expression. Nature genetics, 39(10), 1217-24.  http://dx.doi.org/10.1038/ng2142 

The International Multiple Sclerosis Genetics Consortium. (2007). Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study. N Engl J Med, NEJMoa073493. http://content.nejm.org/cgi/content/abstract/NEJMoa073493v1 

Tomlinson, I., Webb, E., Carvajal-Carmona, L., Broderick, P., Kemp, Z., Spain, S., et al. (2007). A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet, 39(8), 984-988. http://dx.doi.org/10.1038/ng2085 

van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., et al. (2007). A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet, 39(7), 827-829. http://dx.doi.org/10.1038/ng2058 

Vasan, R. S., Larson, M. G., Aragam, J., Wang, T. J., Mitchell, G. F., Kathiresan, S., et al. (2007). Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. BMC medical genetics, 8 Suppl 1, S2.  http://dx.doi.org/10.1186/1471-2350-8-S1-S2 

Weedon, M. N., Lettre, G., Freathy, R. M., Lindgren, C. M., Voight, B. F., Perry, J. R. B., et al. (2007). A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet, 39(10), 1245-1250.  http://dx.doi.org/doi:10.1038/ng2121 

Wilk, J. B., Walter, R. E., Laramie, J. M., Gottlieb, D. J., & O'Connor, G. T. (2007). Framingham Heart Study genome-wide association: results for pulmonary function measures. BMC medical genetics, 8 Suppl 1, S8. http://dx.doi.org/10.1186/1471-2350-8-S1-S8  

Winkelmann, J., Schormair, B., Lichtner, P., Ripke, S., Xiong, L., Jalilzadeh, S., et al. (2007). Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet, 39(8), 1000-1006. http://dx.doi.org/10.1038/ng2099 

Yeager, M., Orr, N., Hayes, R. B., Jacobs, K. B., Kraft, P., Wacholder, S., et al. (2007). Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nature genetics, 39(5), 645-9. http://dx.doi.org/10.1038/ng2022 

Zanke, B. W., Greenwood, C. M., Rangrej, J., Kustra, R., Tenesa, A., Farrington, S. M., et al. (2007). Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet, 39(8), 989-994. http://dx.doi.org/10.1038/ng2089