FTO gene rs9939609 polymorphism is significantly more prevalent among Sri Lankan PCOS subjects while the other selected SNPs of HPG axis genes and INSR gene showed no association.
Furthermore, subgroup analysis in Asian and Caucasian ethnicities also found significant association between rs9939609 </span>A/T polymorphism and PCOS (In Asian subgroup: OR = 1.43, 95% CI = 1.29-1.59, P < 0.0001.
Our findings indicate that neither the FTO rs9939609 and rs8050136 polymorphisms nor its haplotypes are related to PCOS, but suggest an association between the presence of risk alleles of SNPs rs9939609 and rs8050136 in FTO and glucose levels in women from Southern Brazil.
In PCOS the observed per risk allele effect of FTO intron 1 SNP rs9939609 on BMI was +1.56 kg/m2, whereas it was +0.46 kg/m2 in females of the same age range from the general population as shown previously.
We genotyped the single nucleotide polymorphism rs9939609 (T/A) in 288 PCOS women and performed metabolic and hormonal measurements, oral glucose tolerance test, hirsutism score, and lipometry.
In conclusions, the rs9939609 variant in the FTO gene is associated with PCOS susceptibility in the Chinese population, probably because of its effect on BMI.