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

Lee GH, Gyoung Hoon Lee, Choi YM, Young Min Choi, Min A Hong, Min Hong, Hong Ma, Sang Ho Yoon, Yoon SH, Jin Ju Kim, Jinju Kim, Kim JJ, Kyuri Hwang, Hwang K, Soo Jin Chae
Fertility and sterility · 2014 · vol. 102(5) , pp. 1393–1397 · doi:10.1016/j.fertnstert.2014.07.1237 · PMID:25154675 · W2118921145
article OA: closed CC0 ⤵ 14 in-corpus citations
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This study found significant associations between the rs10965235 polymorphism in CDKN2B-AS and the rs16826658 polymorphism near WNT4 with endometriosis in Korean patients.

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Abstract

ObjectiveTo 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.DesignCase-control genetic association study.SettingUniversity.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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Genetic Predisposition to Disease Genetic Predisposition to Disease Polymorphism, Single Nucleotide RNA, Long Noncoding Wnt4 Protein Adult Endometriosis Female Genetic Association Studies Genetic Markers Genetic Markers Genetic Predisposition to Disease Humans Middle Aged Mutation Mutation Polymorphism, Single Nucleotide Prevalence

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