LHCG receptor polymorphisms in PCOS patients

Polycystic ovarian syndrome (PCOS) is a common heterogeneous disorder characterized by multiple clinical features including chronic anovulation, infertility, polycystic ovaries and hyperandrogenic signs. Heredity is an important factor for the development of PCOS, but the search for the specific PCOS related genes is still in progress. Neuroendocrine dysregulation might play a crucial role in the PCOS development, thus the hypothalamic–pituitary secretion as well as gonadotropin receptor changes are important target of research. Two single nucleotide polymorphisms, rs12470652 c.872A>G/p.Asn291Ser and rs2293275 c.935G>A/p.Ser312Asn, in the Luteinizing Hormone/Choriogonadotropin Receptor (LHCGR) gene were studied in healthy Bulgarian women and PCOS patients. The prevalence of both polymorphisms was within the expected ranges for Caucasians and did not differ between the two groups. The heterozygous rs2293275 c.935G>A/p.Ser312Asn PCOS carriers reported infertility more often than both homozygous groups (40% vs. 12.5%, p = 0.022). The same polymorphism was associated with insulin levels in obese PCOS women. The obtained results showed that the rs2293275 c.935G>A/p.Ser312Asn genetic variant could modulate the clinical and hormonal characteristics of PCOS, especially in overweight and obese patients. Thus, larger studies in different ethnic groups and variable PCOS subgroups could reveal important genotype–phenotype associations.