Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females

Background Despite the climbing prevalence of polycystic ovarian syndrome (PCOS) over the years becoming the leading cause of female infertility, the etiology of PCOS remains largely elusive. Accumulatively growing evidence showed multiple variations in the co-genetic factors are involved in the initiation and progression of PCOS, of which SNPs in the non-coding regions of DENND1A gene have been elucidated as PCOS risk candidates. In this study, we aimed to analyze the association of three SNPs in introns of DENND1A previously predicted to PCOS risk: rs10818854, rs2479106, and rs10986105. Methods This study included 36 normally cycling (19–32 y/o) and 33 PCOS (21–35 y/o) Saudi Arabian females. DNA sequencing was utilized to genotype the three SNPs, rs10818854, rs2479106, and rs10986105, in the PCOS individuals in a comparison with the normally cycling group. Also, anthropometrics, blood levels profiles of lipids, sugar and hormones were documented. Statistical tests were performed to assess association and contribution relationships between the genotyped SNPs and PCOS risk. Results The results showed a significant association between the SNP rs2479106 and PCOS among Saudi Arabian females, but not such an association was found regarding the other two SNPs rs10818854 and rs10986105. Conclusion The roles of three SNPs (rs10818854, rs2479106, and rs10986105) on DENND1A in PCOS were defined in a population sample of Saudi Arabian females. The genotyping analysis alongside the anthropometric measurements, metabolic and hormonal profiles revealed the lack of PCOS risk association with rs10818854 and rs10986105 but a significant association to rs2479106 in Saudi Arabian females.