PPARγ Pro12Ala and Pro115Gln polymorphism in a sample of women from the Lower Silesian population

Introduction Polycystic ovary syndrome (PCOS) is an endocrine disorder affecting 5-10% of women of reproductive age [1]. It is characterized by excessive androgen production by the ovaries and adrenal glands, abnormalities in gonadotropin secretion by the pituitary gland, chronic anovulation, infertility, as well as insulin resistance [2]. The genetic mechanisms underlying PCOS remain largely unknown. Among others, genetic variations responsible for androgen production, insulin sensitivity, as well as proinflammatory genotypes, may be involved in the genetic predisposition to PCOS [3]. Peroxisome proliferator activated receptors gamma (PPARγ) are nuclear receptors and transcription factors that are expressed in adipocytes. They are involved in adipocyte differentiation, fatty acid metabolism and have been suggested to play a role in the pathogenesis of insulin resistance and atherosclerosis [4,5]. According to many studies, PPARγ Pro12Ala polymorphism carrier status was associated with obesity, however some linked it with protection from obesity and insulin resistance [6, 7, 8, 9, 10, 11, 12, 13, 14, 15]. The frequency of the Pro12Ala polymorphism of the PPARγ2 gene depends on the studied population. In European countries the Ala allele frequency decreases from north to south, from 21% in Baltic countries to 7% in Mediterranean countries [16]. This study was designed to evaluate the frequency of the PPARγ Pro12Ala and Pro115Gln polymorphism in a sample of women from the Lower Silesian population.