Abstract
Background Variations inKISS1may be an emerging factor in polycystic ovary syndrome (PCOS) We hypothesised links betweenKISS1polymorphisms in PCOS and its associated endocrine and metabolic disturbances. Methods 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) ofKISS1. Endocrine and metabolic parameters of PCOS women were compared in the genotypes. Results Three novel SNPs (rs1213704663C>G, rs1481572212T>G and rs775770652G>A) were detected inKISS1. 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. Conclusion rs1213704663C>G variation inKISS1is linked to PCOS and its associated endocrine and metabolic disturbances (LH and oestradiol hypersecretion, and increased LH/FSH).