Table 1.
Selected recent findings, mainly from genome-wide association studies
| Disease | Chromosomal region or Gene implicated |
|---|---|
| Age related macular degenerationw1 | 1q32 (CFH) and 10q26 (LOC387715/ARMS2) |
| Atrial fibrillationw2 | 4q25 (close to PITX2) |
| Asthmaw3 | ORMDL3 |
| Atopic eczema and asthmaw4 w5 | Filaggrin |
| Breast cancerw6 | FGFR2, TNRC9, MAP3K1, LSP1, H19 |
| Colorectal cancerw7 w8 | 8q24.21 |
| Coronary heart disease/ myocardial infarctionw9 w10 | 9p21 (close to p15/p16 CDKN2A/CDKN2B) |
| Crohn’s diseasew11 | ATG16L1, PHOX2B, NCF4, and a predicted gene on 16q24.1 (FAM92B), CARD15, IL23R |
| Type 1 diabetesw12 | 12q24, 12q13, 16q13, and 18q11, CTLA4, major histocompatibility complex locus |
| Type 2 diabetesw13 | TCF7L2, CDAL1, CDKN2B, IGF2BP2, HHEX/IDE, SLC30A8, FTO, etc |
| Gall stone diseasew2 | ABCG8 |
| Multiple sclerosisw14 | IL2r, IL7-alpha, and ILA-DRA |
| Prostate cancerw15 | 8q24 and 17q |
| Restless leg syndromew16 w17 | MEIS1, BTBD9, locus between MAP2K5 and LBXCOR1 |
| Rheumatoid arthritisw18 | 6q23, major histocompatibility complex locus |
| Systemic lupus erythematosusw19 | IRF5 |
| Traits | |
| Body mass index (obesity)w20 | FTO |
| Heightw21 | HMGA2 |
| Eye, hair, and skin pigmentation (in northern Europeans)w22 | SLC24A4, KITLG, TYR, 6p25.3, OCA2, MC1R |
w1 Swaroop A, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet 2007;16(suppl 2):R174-82.
w2 Gudbjartsson DF, Arnar DO, Helgadottir A, Gretarsdottir S, Holm H, Sigurdsson A, et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 2007;448:353-7.
w3 Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007;448:470-3.
w4 Baurecht H, Irvine AD, Novak N, Illig T, Buhler B, Ring J, et al. Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol 2007;120:1406-12.
w5 Palmer CNA, Ismail T, Lee SP, Terron-Kwiatkowski A, Zhao Y, Liao H, et al. Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol 2007;120:64-8.
w6 Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007;447:1087-93.
w7 Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007;39:984-8.
w8 Zanke BW, Greenwood CM, Rangrej J, Kustra R, Tenesa A, Farrington SM, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 2007;39:989-94.
w9 McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007;316:1488-91.
w10 Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007;357:443-53.
w11 Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007;39:596-604.
w12 Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007;39:857-64.
w13 Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007;316:1336-41.
w14 Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007;357:851-62.
w15 Zheng SL, Sun J, Wiklund F, Smith S, Stattin P, Li G et al. Cumulative Association of Five Genetic Variants with Prostate Cancer. New Engl J Med 2008;358:910-9.
w16 Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 2007;39:1000-6.
w17 Stefansson H, Rye DB, Hicks A, Petursson H, Ingason A, Thorgeirsson TE, et al. A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2007;357:639-47.
w18 Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, et al. Rheumatoid arthritis association at 6q23. Nat Genet 2007;39:1431-3.
w19 Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, et al. Three functional variants of IFN regulatory factor 5 (wIRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A 2007;104:6758-63.
w20 Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, et al. A common variant in the fto gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007 April 12. www.sciencemag.org/cgi/content/abstract/1141634v1.
w21 Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JR, et al. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet 2007;39:1245-50.
w22 Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 2007;39:1415.