Association analysis of KISS1 polymorphisms and haplotypes with polycystic ovary syndrome

Introduction KISS1 play an essential role in human reproductive functions by regulating the hypothalamic-pituitary-gonadal axis. Loss-of-function mutations in this gene have been frequently identified in patients with different reproductive disorders. We hypothesised links between KISS1 polymorphisms and polycystic ovary syndrome (PCOS). Materials and methods In order to find links between KISS1 polymorphisms rs4889 C > G, rs12998 G > A, and rs35431622 A > G with PCOS, 770 blood samples were obtained from 385 control and 385 PCOS women. DNA was extracted, and genotyped for KISS1 variants by PCR. Results rs12998 G > A was linked to PCOS in dominant (p < 0.001), recessive (p < 0.001), co-dominant (p < 0.001), and allelic models (p < 0.001). In addition, rs4889 C > G was linked in recessive, dominant, co-dominant, and allelic models (p < 0.001). rs35431622 A > G was not linked to PCOS. Further analysis indicated that C-G-G haplotype was more common and G-A-G haplotype was less prevalent in cases compared with controls. Conclusion KISS1 variants rs12998 G > A and rs4889 C > G may be linked to the pathophysiology of PCOS.

Automated summary

This study found that KISS1 gene polymorphisms rs12998 G > A and rs4889 C > G may be linked to the pathophysiology of PCOS, while rs35431622 A > G is unrelated to PCOS. Further analysis showed that the C-G-G haplotype was more common in cases, while the G-A-G haplotype was less prevalent in controls.