Genotype and haplotype determination of interleukin (IL) 1β (g. -511C>T and g. +3954C>T) and IL-1RN in polycystic ovary syndrome

The distribution of genotype frequencies, allele frequencies, and haplotype frequencies of variable number of tandem repeats (VNTR) in interleukin (IL) 1RN and IL-1β (-511C > T, exon-5C.>T) polymorphism demonstrated a positive association with the occurrence of polycystic ovary syndrome (PCOS). The carriage of allele V of IL-1RN and allele E1 of exon-5 on the IL-1β gene may increase the risk of PCOS. © 2010 American Society for Reproductive Medicine.