What have we learned from the past 7 years and the millions of dollars spent on the genome-wide association studies?

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Bhoom Suktitipat, MD, PhD
Chayanon Peerapittayamongkol, MD, PhD


The advance in genomic technology has allowed us to genotype millions of single nucleotide polymorphisms (SNPs) across the human genome at the same time. This high-throughput technology, genome-wide association studies (GWAS), enables us to search for genes contributing to many diseases from age-related macular degeneration, type 2 diabetes, coronary heart disease, cancer to common traits such as obesity, height, eye color. To date, there are over 1,779 studies and 12,126 SNPs reported to be associated with more than 300 diseases.


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Suktitipat B, Peerapittayamongkol C. What have we learned from the past 7 years and the millions of dollars spent on the genome-wide association studies?. BKK Med J [Internet]. 2014Feb.20 [cited 2020Jul.16];7(1):99. Available from: https://he02.tci-thaijo.org/index.php/bkkmedj/article/view/219637
Medical Information


1. Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. (Accessed December 22, 2013, at: www.genome.gov/ gwastudies).
2. Nuinoon M, Makarasara W, Mushiroda T, et al. A genome- wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemo- globin E. Hum Genet 2010;127:303-14.
3. Mahasirimongkol S, Yanai H, Mushiroda T, et al. Genome- wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis J Hum Genet 2012;57:363-7.
4. Kamatani Y, Wattanapokayakit S, Ochi H, et al. A genome- wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat Genet 2009;41:591-5.
5. Nishida N, Sawai H, Matsuura K, et al. Genome-wide study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean. PLoS One 2012;7:e39175.
6. Yang W, Shen N, Ye DQ, et al. Genome-wide association study in Asian populations identifies variants in ETS1 andWDFY4associatedwithsystemiclupuserythematosus. PLoS Genet 2010;6:e1000841.
7. Jongjaroenprasert W, Phusantisampan T, Mahasirimongkol S, et al. A genome-wide association study identifies novel susceptibility geneticvariationforthyrotoxichypokalemic periodic paralysis. J Hum Genet 2012;57:301-4.
8. Chantarangsu S, Mushiroda T, Mahasirimongkol S, et al. Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash. Clin Infect Dis 2011;53:341-8.
9. Manolio TA. Bringing genome-wide association findings into clinical use. Nat Rev Genet 2013;14: 549-58.
10. Sanna S, Li B, Mulas A, et al. Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet 2011;7: e1002198.
11. Palomaki GE, Melillo S, Bradley LA. Association between 9p21 genomic markers and heart disease: a meta-analysis. JAMA 2010; 303:648-56.
12. Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID: 139). (Accessed December 25, 2013, at http://www. ncbi.nlm.nih.gov/SNP/).
13. Maher B. Personal genomics: the case of the missing heritability. Nature 2008;456:18-21.
14. Van der Net JB, Janssens AC, Sijbrands EJ, et al. Value of genetic profiling for the prediction of coronary heart disease. Am Heart J 2009;158:105-10.
15. Cirulli ET and Goldstein DB. Uncovering the roles of rare variants in common disease through whole genome sequencing. Nature Rev Genet 2011;11:415-25.
16. Mardis ER. The $1000 genome, the $100,000 analysis? Genome Medicine 2010; 2: 84.