Effect of KISS1 gene variants (rs372790354 G>A and rs4889 G>A) on kisspeptin in patients with polycystic ovary syndrome in Iraq

Polycystic ovary syndrome (PCOS) is a heterogeneous genetic disorder categorized by hyperandrogenism that affects early reproductive age in females. KISS1 has played role in regulating the hypothalamic-pituitary-gonad axis. It also plays a key role in human reproductive function. Imbalance-of-function mutations is often found KISS1 gene of patients with polycystic ovary syndrome. Blood samples were collected from 120 patients (60 control are divided into 30 normal weight and 30 obese) and (60 PCOS) females are divided into 30 normal weight and 30 obese. DNA was extracted and genotyped for KISS1 variants by HRM-PCR and measured the level of kisspeptin by ELIAS, while LH, FSH, DHEA and free testosterone by CLIA. The value of LH, Testosterone, DHEA-S and kisspeptin is elevated in the patient group, while the decline of FSH in serum level patients value, rs372790354 G > A and rs4889 G>A was associated with PCOS in dominant, recessive, co-dominant (P-value< 0.05), rs37279054 AA was not found the effect of obese group and linked with normal weight PCOS put present study no effect on the parameters, rs4889 GG/GA was the effect on all subgroups except the genotype GA not effected on obese female, the highly significant ( P-value<0.05) of rs4889 GA influenced on measured of WHR, LH/FSH ratio and DHEA-S in the patient compared to control, rs4889 GG/AA was influenced on normal-weight patient compare to an obese patient, the WHR was higher in an obese patient in both genotype. While the level of kisspeptin in normal weight with genotype AA was higher level compared to obese and (P-value<0.05). We concluded that the KISS1 levels were higher in PCOS females compared to controls and decreased with increasing BMI, KISS1 polymorphism rs372790354 G>A and rs4889 G>A may be associated with the pathophysiology of PCOS and lead to increased serum level of LH that due to hyperandrogenism.