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

Gyoung Hoon Lee1, Young Min Choi2, Min A Hong3

  • 1I-one Center, Seoul Women's Hospital, Bucheon, South Korea.

Fertility and Sterility
|August 27, 2014
PubMed
Abstract

Insights

Genetic variations 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 linked to endometriosis risk in Koreans. These findings highlight potential genetic markers for endometriosis susceptibility in this population.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Molecular Biology

Background:

  • Endometriosis is a complex gynecological disorder with increasing prevalence worldwide.
  • Genetic factors are implicated in endometriosis pathogenesis, but specific gene associations require further investigation.
  • The cyclin-dependent kinase inhibitor 2B antisense RNA (CDKN2B-AS) and wingless-type MMTV integration site family member 4 (WNT4) genes are potential candidates for endometriosis susceptibility.

Purpose of the Study:

  • To examine the association between specific single-nucleotide polymorphisms (SNPs) in the CDKN2B-AS and WNT4 genes and endometriosis risk.
  • To investigate potential synergistic interactions between these genetic variants in a Korean population.

Main Methods:

  • A case-control genetic association study was conducted.
  • Participants included 673 Korean women with endometriosis and 500 controls.
  • Genotyping was performed for specific SNPs in the CDKN2B-AS (rs10965235) and WNT4 (rs16826658) genes.

Main Results:

  • The CC genotype of the rs10965235 SNP in CDKN2B-AS showed a significant difference in allele distribution between cases and controls.
  • The GG genotype of the rs16826658 SNP near WNT4 also exhibited a significant difference in allele distribution.
  • No significant synergistic interaction was detected between these two SNPs after Bonferroni correction.

Conclusions:

  • The rs10965235 SNP in the CDKN2B-AS gene and the rs16826658 SNP near the WNT4 gene are significantly associated with endometriosis in the studied Korean population.
  • These genetic variants may contribute to endometriosis susceptibility.
  • Further research is warranted to elucidate the functional mechanisms underlying these associations.
Keywords:
CDKN2B-ASWNT4endometriosispolymorphism

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