M Farsimadan1, F Moammadzadeh Ghosi2, S Takamoli1, H Vaziri1. 1. Department of Biology, Faculty of Sciences, University of Guilan, Rasht/Iran. 2. Department of Medical Microbiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Abstract
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.
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.