Association of CDKN2B AS and WNT4 genetic polymorphisms in Korean patients with endometriosis
This study demonstrated that the rs10965235 single-nucleotide polymorphism in the CDKN2B-AS gene and the rs16826658 single-nucleotide polymorphism near the WNT4 gene were significantly associated with endometriosis in a Korean population.
Gyoung Hoon Lee, M.D., Young Min Choi, M.D., Min A. Hong, B.S., Sang Ho Yoon, M.D., Jin Ju Kim, M.D., Kyuri Hwang, M.D., Soo Jin Chae, M.D.
Volume 102, Issue 5, Pages 1393–1397
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.
Case-control genetic association study.
University, Department of Obstetrics and Gynecology.
Surgically or histologically diagnosed cases of endometriosis (n = 673) and controls (n = 500) among a population of ethnic Koreans.
Main Outcome Measure(s):
Genotype distribution and synergistic interaction.
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 significant 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).
Our results suggest that the rs10965235 SNP in the CDKN2B-AS gene and the rs16826658 SNP near the WNT4 gene were significantly associated with endometriosis in this Korean population.