Recently identified genetic variants associated with disease*

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.