A Short History of the Genome-wide Association Study: Where We Were and Where We Are Going

Overview

Journal Genomics Inform

Publisher Biomed Central

Specialty Biology

Date 2013 Jan 25

PMID 23346033

Citations 14

Authors

Shiro Ikegawa

Affiliations

Soon will be listed here.

Abstract

Recent rapid advances in genetic research are ushering us into the genome sequence era, where an individual's genome information is utilized for clinical practice. The most spectacular results of the human genome study have been provided by genome-wide association studies (GWASs). This is a review of the history of GWASs as related to my work. Further efforts are necessary to make full use of its potential power to medicine.

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References

Kim Y, Go M, Hu C, Bum Hong C, Kim Y, Lee J . Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Nat Genet. 2011; 43(10):990-5. DOI: 10.1038/ng.939. View

Hirakawa M, Tanaka T, Hashimoto Y, Kuroda M, Takagi T, Nakamura Y . JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res. 2001; 30(1):158-62. PMC: 99126. DOI: 10.1093/nar/30.1.158. View

Istrail S, Sutton G, Florea L, Halpern A, Mobarry C, Lippert R . Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A. 2004; 101(7):1916-21. PMC: 357027. DOI: 10.1073/pnas.0307971100. View

Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunoda T . Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet. 2002; 32(4):650-4. DOI: 10.1038/ng1047. View

Nakajima M, Miyamoto Y, Ikegawa S . Cloning and characterization of the osteoarthritis-associated gene DVWA. J Bone Miner Metab. 2010; 29(3):300-8. DOI: 10.1007/s00774-010-0230-z. View

Thomas D, Haile R, Duggan D . Recent developments in genomewide association scans: a workshop summary and review. Am J Hum Genet. 2005; 77(3):337-45. PMC: 1226200. DOI: 10.1086/432962. View

Okada Y, Sim X, Go M, Wu J, Gu D, Takeuchi F . Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet. 2012; 44(8):904-9. PMC: 4737645. DOI: 10.1038/ng.2352. View

Haga H, Yamada R, Ohnishi Y, Nakamura Y, Tanaka T . Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism. J Hum Genet. 2002; 47(11):605-10. DOI: 10.1007/s100380200092. View

Lander E, Linton L, Birren B, Nusbaum C, Zody M, Baldwin J . Initial sequencing and analysis of the human genome. Nature. 2001; 409(6822):860-921. DOI: 10.1038/35057062. View

10.

. The International HapMap Project. Nature. 2003; 426(6968):789-96. DOI: 10.1038/nature02168. View

11.

Topol E, Murray S, Frazer K . The genomics gold rush. JAMA. 2007; 298(2):218-21. DOI: 10.1001/jama.298.2.218. View

12.

Castano Betancourt M, Cailotto F, Kerkhof H, Cornelis F, Doherty S, Hart D . Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. Proc Natl Acad Sci U S A. 2012; 109(21):8218-23. PMC: 3361426. DOI: 10.1073/pnas.1119899109. View

13.

Kou I, Takahashi A, Urano T, Fukui N, Ito H, Ozaki K . Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese. PLoS One. 2011; 6(5):e19641. PMC: 3089633. DOI: 10.1371/journal.pone.0019641. View

14.

Miyamoto Y, Shi D, Nakajima M, Ozaki K, Sudo A, Kotani A . Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis. Nat Genet. 2008; 40(8):994-8. DOI: 10.1038/ng.176. View

15.

Sanna S, Jackson A, Nagaraja R, Willer C, Chen W, Bonnycastle L . Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet. 2008; 40(2):198-203. PMC: 2914680. DOI: 10.1038/ng.74. View

16.

Tanaka N, Babazono T, Saito S, Sekine A, Tsunoda T, Haneda M . Association of solute carrier family 12 (sodium/chloride) member 3 with diabetic nephropathy, identified by genome-wide analyses of single nucleotide polymorphisms. Diabetes. 2003; 52(11):2848-53. DOI: 10.2337/diabetes.52.11.2848. View

17.

Wen W, Cho Y, Zheng W, Dorajoo R, Kato N, Qi L . Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet. 2012; 44(3):307-11. PMC: 3288728. DOI: 10.1038/ng.1087. View

18.

Suzuki A, Yamada R, Chang X, Tokuhiro S, Sawada T, Suzuki M . Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet. 2003; 34(4):395-402. DOI: 10.1038/ng1206. View

19.

Carninci P, Kasukawa T, Katayama S, Gough J, Frith M, Maeda N . The transcriptional landscape of the mammalian genome. Science. 2005; 309(5740):1559-63. DOI: 10.1126/science.1112014. View

20.

. A haplotype map of the human genome. Nature. 2005; 437(7063):1299-320. PMC: 1880871. DOI: 10.1038/nature04226. View