Polycystic ovary syndrome and the rs10818854 and rs10986105 variants of the DENND1A gene: An association study among Bangladeshi women

Abstract

BackgroundPolycystic ovary syndrome (PCOS) is a polygenic complex pathophysiological condition characterized by hyperandrogenism, ovulatory dysfunctions, and polycystic ovaries that has been linked to a variety of reproductive, endocrine, and metabolic conditions. The etiopathogenesis of PCOS remains unknown, nevertheless, genetic factors are believed to play a significant role. DENND1A is a strong candidate gene, variants of which have been correlated with susceptibility to PCOS in several populations of different ethnicities. AimIn this study, a multiplex allele-specific polymerase chain reaction (ASPCR) protocol was developed to genotype people with and without PCOS from the Bangladeshi population at two loci of the DENND1A gene: rs10818854 and rs10986105. The aim was to calculate the genotype and allele frequencies of these variants, as well as to evaluate the association of allelic distribution in disease and control groups. ResultsThe calculated frequencies of the variant alleles in the PCOS group were 0.11 and 0.10 at the rs10818854 (T allele) and rs10986105 (G allele) loci, respectively. A significant association was found between the allelic distribution of the rs10986105 variant and PCOS, but not for the other. The allele model (p = 0.007) indicated 4.125 times increased odds of being diagnosed with PCOS in individuals with the rs10986105 variant G allele. Analysis of phenotypic features showed a significant correlation of metabolic, reproductive, and endocrine anomalies with PCOS in the study population. An altered ratio of luteinizing hormone to follicle-stimulating hormone secretion, manifestations of acne, total testosterone, and higher than normal levels of blood glucose have a positive correlation with PCOS among Bangladeshi women. ConclusionOverall, this study introduces a rapid and straightforward method for simultaneously determining the genotypes at rs10818854 and rs10986105 variants in the DENND1A gene. This approach provides a valuable means of predicting the risk of developing PCOS later in life.