Disease | Examples of research consortiums | Examples of associated genes | Insight on mechanism |
---|---|---|---|
Crohn’s disease | WTCCC | NOD2, IRGM, ATG16L1, IL23R, PTPN2, PTGER4 | Autophagy, immunity |
Type 2 diabetes | DIAGRAM WTCCC DGI | TCF7L2, CAPN10, VNTR, SLC2A2, IRS1, CDKAL1, FTO, CDKN2B | Insulin secretion unknown |
Myocardial infarction and coronary heart disease | CARDIOGRAM WTCCC | APOE, PCSK9, CELSR2/PSRC1, CDKN2A/CDKN2B | Low density lipoprotein-cholesterol pathway unknown |
Age related macular disease | CFH, C2/CFB, C3, CFI, ARMS2, TIMP3, LIPC, CETP, LPL, ABCA1 | Complement pathway, high density lipoprotein-cholesterol pathway? | |
Breast cancer | Asia Breast Cancer Consortium | BRCA1, BRCA2, PTEN, TP53, FGFR2, TNRC9 | DNA and cell repair, tumour suppression pathway |
Meningococcal disease | International Meningococcal Genetics Consortium | CFH/CFHR3 | Complement pathway |
Tuberculosis | African Tuberculosis Genetics Consortium and WTCCC | GATA6, CTAGE1, RBBP8, CABLES1 | As yet unknown |
*The variants vary in their strength of effect. Some variants (such as BRCA1 in breast cancer and CFH in age related macular disease) are strongly associated with disease risk and thus highly predictive of disease risk, whereas others (such as those listed for myocardial infarction and coronary heart disease) are only weakly associated with disease risk and provide little predictive power.