Meta-analysis of WNT4 and CDKN2B-AS1 gene polymorphisms in relation to endometriosis
Subject Areas :
Keywords: endometriosis, meta-analysis, WNT4 gene, CDKN2B-AS1 gene, GWA studies, polymorphism, non-coding RNA,
Abstract :
Purpose: Endometriosis is a complex disease that can be hereditary and its occurrence is under many genetic and environmental factors. Genome-wide studies have proven that they can be successful in identifying variants that affect the occurrence of complex diseases. In the present study, the analysis and summation of genome-wide studies in relation to WNT4 and CDKN2B-AS1 gene variants, and their association with the occurrence of this disease, has been done. Materials and methods: In the present meta-analysis, studies on polymorphisms associated with WNT4 and CDKN2B-AS1 genes in the GWAS database have been reviewed. The studies were related to populations with European and East Asian ancestors, and in order to investigate the variant with the highest level of association in the above gene loci with the occurrence of endometriosis, the fixed-effect statistical model was used. Findings: Among the examined variants, loci rs3920498 (with significance p<1.1e-5 and probability ratio equal to 1.19) and rs1537377 (with significance p<1.33e-10 and probability ratio equal to 1.09) are more associated with endometriosis. Conclusion: In the present study, it was found that rs3920498 (upstream of WNT4 gene) and rs1537377 (downstream of CDKN2B-AS1 gene) loci are most associated with endometriosis disease.