Association between two single nucleotide polymorphisms of PDCD6 gene and increased endometriosis risk

Programmed cell death 6 (PDCD6), a calcium binding protein of the penta EF-hand protein family, and its receptors are involved in regulation of apoptosis pathways. To evaluate the relationship between genetic polymorphisms of PDCD6 gene and endometriosis (ED) risk, we investigated the association of two single nucleotide polymorphisms (SNPs) of PDCD6 gene (rs4957014 and rs3756712) in 220 endometriosis patients and 386 unrelated healthy controls. The genotypes of these two SNPs were determined by using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and DNA sequencing methods. Significantly increased endometriosis risk was observed to be associated with G allele of rs4957014 locus (OR=1.31, 95% CI=1.03-1.69). We have also observed increased ED risk was statistically associated with rs4957014 polymorphism in a dominant model (OR=1.52, 95% CI=1.09-2.13). Although no association has been found between ED risk and the allele frequencies of rs3756712 locus (a marginal P=0.066, OR=1.27, 95% CI=0.98-1.65), but in a dominant model, increased endometriosis risk was significantly associated with rs3756712 polymorphism (OR=1.54, 95% CI=1.11-2.17). In conclusion, the current study indicates that PDCD6 gene may be a new susceptibility gene to endometriosis.