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

Abstract

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 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).

CONCLUSION(S):

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.

• Authors: Gyoung Hoon Lee, Young Min Choi, Min A Hong, Sang Ho Yoon, Jin Ju Kim, Kyuri Hwang, Soo Jin Chae
• Journal: Fertility and sterility (Fertil Steril) Vol. 102 Issue 5 Pg. 1393-7 (Nov 2014) ISSN: 1556-5653 [Electronic] United States
• PMID: 25154675 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Chemical References

• CDKN2B antisense RNA, human
• Genetic Markers
• RNA, Long Noncoding
• WNT4 protein, human
• Wnt4 Protein

Topics

• Adult
• Endometriosis (epidemiology, genetics)
• Female
• Genetic Association Studies
• Genetic Markers (genetics)
• Genetic Predisposition to Disease (epidemiology, genetics)
• Humans
• Middle Aged
• Mutation (genetics)
• Polymorphism, Single Nucleotide (genetics)
• Prevalence
• RNA, Long Noncoding (genetics)
• Reproducibility of Results
• Republic of Korea (epidemiology)
• Risk Factors
• Sensitivity and Specificity
• Wnt4 Protein (genetics)