Association of WNT4 polymorphisms with endometriosis in infertile patients
Association of WNT4 polymorphisms with endometriosis in infertile patients
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DOI：
10.1007/s10815-015-0523-1
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发表时间：
2015-09-01
影响因子：
3.1
通讯作者：
Christofolini, Denise
中科院分区：
文献类型：
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作者：
Mafra, Fernanda;Catto, Michele;Christofolini, Denise
最近，几项全基因组关联研究表明，子宫内膜异位症与位于Wnt4基因或其附近的标志物之间存在关联。为了评估这些发现的有效性，我们在巴西人群中进行了一项重复病例对照研究。遗传关联研究包括400名患有子宫内膜异位症的不孕妇女和400名生育妇女作为对照。应用TaqMan等位基因识别技术研究WNT4基因4个单核苷酸多态(rs16826658、rs3820282、rs2235529和rs7521902)与子宫内膜异位症的关系。进行Wnt4基因多态性的基因型分布、等位基因频率和单倍型分析。结果发现WNT4基因rs16826658(p=7E-04)和rs3820282(p=0.048)单核苷酸多态与子宫内膜异位症相关，而rs2235529和rs7521902SNPs与对照组无明显差异。提示WNT4基因rs16826658和rs3820282可能参与了子宫内膜异位症的发病。对WNT4基因变异的分析可能有助于识别疾病发展的高风险患者。
Recently, several genome-wide association studies have demonstrated an association between endometriosis and markers located in or near to WNT4 gene. In order to assess the validity of the findings, we conducted a replication case-control study in a Brazilian population.Genetic association study comprising 400 infertile women with endometriosis and 400 fertile women as controls. TaqMan allelic discrimination technique was used to investigate the relationship between endometriosis and four single-nucleotide polymorphisms (rs16826658, rs3820282, rs2235529, and rs7521902) in WNT4 gene. Genotype distribution, allele frequency, and haplotype analysis of the WNT4 polymorphisms were performed. A p value < 0.05 was considered significant.The results revealed a significant association of rs16826658 (p = 7e-04) and rs3820282 (p = 0.048) single-nucleotide polymorphisms (SNPs) on WNT4 gene with endometriosis-related infertility, while rs2235529 and rs7521902 SNPs showed no difference between cases and controls.Our results suggested that rs16826658 and rs3820282 polymorphisms on WNT4 gene might be involved in the pathogenesis of endometriosis in the infertile women studied. Analysis of WNT4 genetic variants might help to identify patients at high risk for disease development.