Association of CDKN2B-AS and WNT4 genetic polymorphisms in Korean patients with endometriosis

Objective: To investigate whether specific genetic polymorphisms in the cyclin-dependent kinase inhibitor 2B antisense RNA (CDKN2B-AS) gene and near the wingless-type MMTV integration site family member 4 (WNT4) gene are associated with endometriosis in a Korean population. Design: Case-control genetic association study. Setting: University. Patient(s): Surgically or histologically diagnosed cases of endometriosis (n = 673) and controls (n = 500) among a population of ethnic Koreans. Intervention(s): None. Main Outcome Measure(s): Genotype distribution and synergistic interaction. Result(s): Significant differences were found in the allele distributions of the CC genotype of the rs10965235 single-nucleotide polymorphism (SNP) of the CDKN2B-AS gene and the GG genotype of the rs16826658 SNP on chromosome 1p36 between the endometriosis cases and the controls (rs10965235: 69.7% CC, 26.9% CA, and 3.4% AA vs. 59.2% CC, 35.2% CA, and 5.6% AA; rs16826658: 33.7% GG, 48.4% GT, and 17.8% TT vs. 25.6% GG, 49.8% GT, and 24.6% TT, respectively). A signi ficant interaction was not found between the CC genotype of the rs10965235 SNP and the GG genotype of the rs16826658 SNP after Bonferroni correction (32.8% of CC + GG and 67.2% of CC + non-GG in the endometriosis cases vs. 25.0% of CC + GG and 75.0% of CC + non-GG in the controls). Conclusion(s): Our results suggest that the rs10965235 SNP in the CDKN2B-AS gene and the rs16826658 SNP near the WNT4 gene were signi ficantly associated with endometriosis in this Korean population.