Background: Studies have suggested that the Calpain-10 gene polymorphisms may play a role in polycystic ovary syndrome (PCOS) susceptibility. Thus, the aim of the present study was to evaluate the possible association between three single nucleotide polymorphisms (SNPs) in the calpain-10 gene (UCSNPs -43, -19, and -63) and polycystic ovary syndrome (PCOS) in Chilean women.
Methods: Fifty women with PCOS (28.8+/-8.2 y) and 70 healthy women (28.6+/-8.6 y) were included in this study. Serum lipids, hormonal status, fasting glucose, oral glucose tolerance test (OGTT), insulin, HOMAIR, and uric acid levels were determined by conventional methods. The calpain-10 gene variants were detected by PCR and PCR-RFLP, respectively.
Results: The presence of uncommon allele (A) for the UCSNP-43 was associated with increased risk of PCOS (odds ratio=1.93, 95% CI: 1.11-3.34). The UCSNP-63 (OR=1.11, 95% CI: 0.59-2.11) and UCSNP-19 (OR=0.93, 95% CI: 0.55-1.57) were not associated to PCOS. However, the PCOS women carrying the CC genotype for UCSNP-63 exhibited higher values of total cholesterol and LDL-C (P<0.05). Similarly, control women carrying the CC genotype showed higher serum levels of triglycerides, HDL-C and uric acid (P<0.05).
Conclusion: Our data suggest the contribution of CAPN10 UCSNP-43 gene polymorphism to PCOS in Chilean women. However, further studies with larger samples are necessary to confirm this observation.