The Effect of Leptin Receptor Gene Polymorphisms (R223Q and P1019P) in Susceptibility to Polycystic Ovarian Syndrome in Kurdish Women

Document Type : Original Article


1 Internal Medicine Department, Imam Reza Hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran

2 Fertility and Infertility Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran

3 Department of Anatomical Sciences, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran

4 Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran


Background: Polycystic ovary syndrome (PCOS) is the known endocrinopathy disorder in the reproductive phase of
women’s life. More than half of the women with PCOS suffer from obesity which impacts the ovarian functions by
leptin levels. Here the R223Q and P1019P polymorphisms of leptin receptor (LEPR) gene were examined in PCOS
patients of Kurdish women from west of Iran.

Materials and Methods: In this case-control study, one hundred women with PCOS and 100 healthy women bearing
similar age range were selected based on Rotterdam diagnostic criteria. Polymerase chain reaction-restriction fragment
length polymorphism (PCR-RFLP) method was used to genotype polymorphisms LEPR (R223Q and P1019P),
by respectively the BsaWI and NcoI restriction enzymes. Pearson’s chi-square (χ2) test was used to analyze the variation
in genetic distributions and unconditional logistic regression model was used to calculate the odds ratio (OR;
95% CI).

Results: Genotype frequencies of the R223Q and P1019P polymorphisms showed significant difference between the
patients with PCOS compared to the controls. G allele (R223Q) reduced the risk of PCOS about 0.49-fold (p <0.001).
While, T allele (P1019P) increased the risk of PCOS 2.69-fold (p <0.001).

Conclusion: It can be concluded that the R223Q and P1019P polymorphisms showed a significant association with
PCOS susceptibility risk. It seems that G allele (R223Q) with reducing OR had a protective effect on this syndrome,
while T allele (P1019P) with increasing OR was a risk factor for PCOS.


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