Review
Copyright ©The Author(s) 2015.
World J Diabetes. Jul 10, 2015; 6(7): 936-942
Published online Jul 10, 2015. doi: 10.4239/wjd.v6.i7.936
Table 1 Genetics of polycystic ovary syndrome
The genes associated with PCOSGenetic mutation (specific enzyme, protein or receptor)
Genes involved in ovarian and adrenal steroidogenesisCYP11A (P450 cytochrome)
CYP21 (21-hydroxylase)
CYP17 (17α-hydroxylase and 17,20-lyase)
CYP19 (the enzyme complex aromatase: cytochrome P450 aromatase, the NADPH cytochrome P450 reductase 30, and P450 arom)
Genes involved in steroid hormone actionsAR-VNTR polymorphism (the androgen receptors)
4-kb gene - A pentanucleotide repeat polymorphism (SHBG)
Genes involved in gonadotropin action and regulationTrp8Arg and Ilg15Thr (the β-subunit of LH)
Genes involved in insulin action and secretionINS -VNTR (insulin)
INSR-SNP (insulin receptor)
Gly972Arg for IRS1, Gly1057Asp for IRS2 (insulin receptor substrates)
112/121 haplotype of CAPN10 (calpain-10)
ApaI; rs680-SNP (IGF-1, IGF-2)
Genes involved in energy homeostasisT45G in exon 2 and G276T in intron 2 (adipocytokines)
Genes involved in chronic inflammationMutation 308 A alleles (TNF-α)
TNFR2, IL-6 signal transducer gp 130, IL-6 receptor genes (type-2 TNF receptor, IL-6)
Polymorphism 4G/5G (PAI-1)