Genotyping of peroxisome proliferator activated receptor gamma (PPAR-γ) polymorphism (Pro12Ala) in Iranian patients with polycystic ovary syndrome

Background: Polycystic ovary syndrome (PCOS) is characterized by exaggerated production of androgens, ovulatory dysfunction and abnormalities in ovarian morphology, which affects about 5%-10% of women of reproductive age and is a leading cause of infertility. Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism and insulin sensitivity. This enzyme is a candidate gene for several human disorders including obesity and type 2 diabeteAs mellitus. Screening for mutations in the entire coding region of the PPARγ gene yielded a missense C→G mutation at codon 12, resulting in the substitution of proline with alanine (Pro12Ala).Objective: Polycystic ovary syndrome is a heterogeneous disorder associated with a moderate degree of insulin resistance and a higher risk of developing abbreviation for obsolete term non-insulin-dependent diabetes mellitus (NIDDM). The aim of this study was to investigate the frequency of Pro12Ala polymorphism in patients with PCOS.Methods: A total of 100 reproductive-aged women were included in this case–control study were diagnosed as a PCOS based on Rotterdam criteria and 100 healthy women with no evidence of PCOS were recruited as controls. The case and control group were genotyped using the technique PCR-RFLP for Pro12Ala polymorphism.Result: The cc allele frequency was 67% in patients group. Among studied subjects 2% were abnormal homozygous and 31% were genotyped as heterozygous. The allele frequency differences between groups were estimated using Chi-squar test, and we have seen significance difference (p value< 0.0001) between two groups. Also, FSH and LH levels were difference in patients and control groups.Conclusion: this study demonstrates difference in allelic distribution in Iranian population. Also, The allele frequency of Iranian population is similar to Indian population. Future association studies are required to reveal clinical consequence of Pro12Ala polymorphism in carrier individuals.

کلیدواژه ها:

Genotyping ، PCR-RFLP ، Polycystic ovary syndrome ، Polymorphism ، PPARγ ، PCOS