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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
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