Association of insulin gene variable number of tandem repeats regulatory polymorphism with polycystic ovary syndrome

The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies

“…Nineteen systematic reviews investigated SNPs [33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51]. The remaining two systematic reviews investigated CAG repeat length or tandem repeats respectively [52,53]. Candidate genes focused on three main aspects of PCOS pathophysiology: metabolic dysfunction, [33,35,38,39,40,41,42,43,44,48,49,50,52], imbalances in androgens and gonadotrophins [36,37,51,53], and inflammation [34,45,46,47].…”

“…In two systematic reviews, the SNP rs1801278 in IRS-1 was associated with an increased risk of PCOS when carrying the A allele, in a combined cohort of women from different ancestries [39,44]. The III allele in INS-VNTR was associated with an increased risk of PCOS compared to I allele [52], also in a combined cohort of multiple ancestries. The SNP rs4646903 in CYP1A1 and the CYP11A1 microsatellite [TTTA] n repeat polymorphism were associated with increased risk of PCOS, however not across all ancestries [41,42].…”

“…Ten of the 21 included systematic reviews (48%) did not describe which PCOS diagnostic criteria they accepted in their inclusion criteria (Supplementary Table S5) [36,38,39,41,44,45,47,50,51,52]. The remaining 11 systematic reviews accepted diagnostic criteria consistent with the most inclusive Rotterdam diagnostic criteria.…”

“…One SR did not test for HWE [53]. The remaining systematic reviews (15/21) all performed sensitivity analysis of the individual studies whose control group did not conform to the HWE [34,35,36,37,39,44,45,46,52].…”

A Review on the Link between Psoriasis Vulgaris and Polycystic Ovary Syndrome

“…The phenotypic features of PCOS are associated with hyperinsulinemia as a result of insulin resistance [49] due to insulin secretion effects on ovarian androgen hypersecretion [50]. Recent studies have demonstrated that tandem repeat variations in the insulin gene (INS) [51][52], as well as single nucleotide polymorphisms in the insulin receptor (INSR) gene [19][20], are associated with PCOS. In addition, genetic alterations in insulin-mediated pathways cause insulin resistance, obesity, and metabolic and cardiovascular disease both in patients with psoriasis and in those with PCOS.…”