Relevance of gene polymorphisms in susceptibility to polycystic ovary syndrome and its associated endocrine and metabolic disturbances.

: Variations in may be an emerging factor in polycystic ovary syndrome (PCOS) We hypothesised links between polymorphisms in PCOS and its associated endocrine and metabolic disturbances. : The study included 104 PCOS women and 109 controls. Endocrine (kisspeptin, LH, FSH, LH-FSH ratio, oestradiol) and metabolic (cholesterol, triglycerides, HDL, LDL, insulin and glucose) parameters were measured. PCR and nucleotide sequencing were carried out to screen single nucleotide polymorphisms (SNPs) of . Endocrine and metabolic parameters of PCOS women were compared in the genotypes. : Three novel SNPs (rs1213704663C>G, rs1481572212T>G and rs775770652G>A) were detected in . Of these SNPs, the genotype and allele frequencies of rs1213704663C>G were all significantly associated p<0.001 with PCOS. The LH and oestradiol hypersecretion, and increased LH-FSH ratio of PCOS women were significantly influenced by the GG genotype of rs1213704663, but, this SNP did not influence kisspeptin levels. The other two SNPs rs1481572212T>G and rs775770652G>A exhibited no clinical significance. : rs1213704663C>G variation in is linked to PCOS and its associated endocrine and metabolic disturbances (LH and oestradiol hypersecretion, and increased LH/FSH).