Investigation of associations between polycystic ovary syndrome and INSR gene polymorphisms rs2059806 and rs2252673

The etiology of polycystic ovary syndrome is still clearly unknown. Research results indicate that polycystic ovary syndrome may be a multifactorial disease whose inheritance pattern is potentially autosomal dominant. INSR gene polymorphisms are frequently seen among polycystic ovary syndrome patients who also have insulin resistance. The aim of this study was to investigate associations between INSR gene polymorphisms rs2059806 and rs2252673 with polycystic ovary syndrome.

A total of 48 polycystic ovary syndrome and 50 control subjects were recruited in this case-control study. A real-time polymerase chain reaction method (particularly the cycle threshold method) was used for polymorphism genotyping. Genotype and allele frequencies as well as the effects of the genotypes on having polycystic ovary syndrome were evaluated by appropriate statistical methods. Also, differences between genotypes in terms of clinical characteristics were tested.

There was no difference in genotype and allele frequencies between the polycystic ovary syndrome and control groups when calculated under both additive and dominant models (p>0.05). The polycystic ovary syndrome group showed significantly higher mean testosterone levels (p<0.001) and significantly lower estradiol (p=0.006), follicle-stimulating hormone (p=0.021), and progesterone (p<0.001) levels compared to controls. The GG genotype (polymorphic) of the rs2252673 polymorphism in the polycystic ovary syndrome group showed significantly higher mean testosterone and progesterone levels compared to both GC and CC genotypes (p=0.004 and p=0.019, respectively).

Being the first of its kind that investigates associations between polycystic ovary syndrome and INSR gene rs2059806 and rs2252673 polymorphisms in a population from Turkey, the present study detected no association.