Table 1 Genetic loci associated with disease and phenotypic variation
From: Genetic determinants of phenotypic diversity in humans
Disease type | Disease | Associated loci | Date of publication | Reference |
|---|---|---|---|---|
Cancer | Acute lymphoblastic leukemia | PAX5 and others | 12 April 2007 | [40] |
| Â | Breast cancer | FGFR2, TNCR9, MAP3K1, LSP and others | 27 May 2007 | [41] |
| Â | Colon, prostate cancer | 8q24 | 8 July 2007 | [42-44] |
| Â | Colorectal cancer | SMAD7 | 14 October 2007 | [45] |
| Â | Â | CRAC1 (HMPS) | 16 December 2007 | [46] |
| Â | Multiple solid tumors | CASP8 | 22 April 2007 | [47] |
| Â | Prostate cancer | 8q24 | 1 April 2007 | [48,49] |
| Â | Â | TCF2; 17p | 1 July 2007 | [50] |
| Â | Â | 2p15, Xp11.22 and multiple others | 10 February 2008 | [51-53] |
Heart | Myocardial infarction, coronary artery disease, intracranial aneurysm | 9p21 | 6 January 2008 | [26] |
| Â | Â | 9p21 | 3 May 2007 | [26,54] |
| Â | Â | 6q25, 2q36 | 18 July 2007 | [28] |
| Â | Atrial fibrillation | 4q25 | 1 July 2007 | [55] |
Metabolic | Celiac disease | IL-2, IL-21 | 10 June 2007 | [56] |
| Â | Diabetes, type 1 | 12q24 and others | 6 June 2007 | [57] |
| Â | Â | KIAA0350 | 15 July 2007 | [37] |
| Â | Â | IL2RA | 5 August 2007 | [58] |
| Â | Diabetes, type 2 | CDKAL1 and six others | 26 April 2007 | [59,60] |
| Â | Â | WFS1 | 1 July 2007 | [61] |
| Â | Gout | SLCA9 | 9 March 2008 | [23,24] |
| Â | Hypercholesterolemia | CELSR2 | 9 February 2008 | [62] |
| Â | Lipoprotein disorders | MLX1PL and multiple others | 13 January 2008 | [32,62,63] |
| Â | Obesity | FTO | 12 April 2007 | [31] |
Neurodegenerative | Amyotrophic lateral sclerosis | FLJ10986 | 1 August 2007 | [64] |
| Â | Â | DPP6 | 16 December 2007 | [65] |
|  | Multiple sclerosis | IL7Rα, IL2Rα | 28 July 2007 | [66-68] |
Immune mediated | Ankylosing spondylitis | ARTS1, IL23R | 21 October 2007 | [69] |
| Â | Autoimmune thyroid disease | TSHR, FCRL3 | 21 October 2007 | [69] |
| Â | Rheumatoid arthritis | 6p21, 1p13 | 7 June 2007 | [22] |
| Â | Â | TRAF1-C5 | 31 August 2007 | [70] |
| Â | Â | 6q23 | 4 Nov 2007 | [71,72] |
| Â | Systemic lupus erythematosus | TNFSF4 | 2 December 2007 | [73] |
| Â | Â | PXK, KIAA1542, BANK1, C8orf-BLK, ITGAM | 20 January 2008 | [74-77] |
| Â | Age-related macular degeneration | C3 | 18 July 2007 | [78] |
| Â | Celiac disease | IL-2, IL-21 | 10 June 2007 | [56] |
Other | Asthma (childhood) | ORMDL3 | 4 July 2007 | [79] |
| Â | Bipolar disorder | 16p12 | 7 June 2007 | [22] |
| Â | Crohn's disease | IRGM | 6 June 2007 | [80] |
| Â | Â | ILR23 | 26 October 2006 | [81] |
| Â | Â | IBD5 | October 2001 | [82] |
| Â | Â | ATG16L1 | 15 April 2007 | [83,84] |
| Â | Â | 5p13.1 | 5 March 2007 | [85] |
| Â | Â | NOD2 | 16 June 2001 | [86] |
| Â | Gallstone disease | ABCG8 | 15 July 2007 | [87] |
| Â | Glaucoma | LOXL1 | 9 August 2007 | [88] |
| Â | HIV host control | HLA-B*5701 | 19 July 2007 | [89] |
|  | Psoriasis | β-Defensin, CNV | 2 December 2007 | [90] |
| Â | Restless leg syndrome | MEIS1, BTBD9, MAP2K5 | 18 July 2007 | [91] |