Association between two single nucleotide polymorphisms of PDCD6 gene and increased endometriosis risk

Programmed cell death 6 (PDCD6), a calcium binding protein of the penta EF-hand protein family, and its receptors are involved in regulation of apoptosis pathways. To evaluate the relationship between genetic polymorphisms of PDCD6 gene and endometriosis (ED) risk, we investigated the association of two single nucleotide polymorphisms (SNPs) of PDCD6 gene (rs4957014 and rs3756712) in 220 endometriosis patients and 386 unrelated healthy controls. The genotypes of these two SNPs were determined by using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and DNA sequencing methods. Significantly increased endometriosis risk was observed to be associated with G allele of rs4957014 locus (OR = 1.31, 95% CI = 1.03-1.69). We have also observed increased ED risk was statistically associated with rs4957014 polymorphism in a dominant model (OR = 1.52, 95% CI = 1.09-2.13). Although no association has been found between ED risk and the allele frequencies of rs3756712 locus (a marginal P = 0.066, OR = 1.27, 95% CI = 0.98-1.65), but in a dominant model, increased endometriosis risk was significantly associated with rs3756712 polymorphism (OR = 1.54, 95% CI = 1.11-2.17). In conclusion, the current study indicates that PDCD6 gene may be a new susceptibility gene to endometriosis. Crown Copyright (C) 2012 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

程序性细胞死亡6（PDCD6）是五EF - 手蛋白家族中的一种钙结合蛋白，其受体参与细胞凋亡途径的调控。为了评估PDCD6基因的遗传多态性与子宫内膜异位症（ED）风险之间的关系，我们研究了PDCD6基因的两个单核苷酸多态性（SNPs）（rs4957014和rs3756712）在220例子宫内膜异位症患者和386例无亲缘关系的健康对照者中的相关性。这两个SNP的基因型通过聚合酶链反应（PCR） - 限制性片段长度多态性（RFLP）和DNA测序方法确定。观察到rs4957014位点的G等位基因与子宫内膜异位症风险显著增加相关（比值比 = 1.31，95%置信区间 = 1.03 - 1.69）。我们还观察到在显性模型中，子宫内膜异位症风险增加与rs4957014多态性有统计学关联（比值比 = 1.52，95%置信区间 = 1.09 - 2.13）。尽管在子宫内膜异位症风险与rs3756712位点的等位基因频率之间未发现关联（边缘P = 0.066，比值比 = 1.27，95%置信区间 = 0.98 - 1.65），但在显性模型中，子宫内膜异位症风险增加与rs3756712多态性显著相关（比值比 = 1.54，95%置信区间 = 1.11 - 2.17）。总之，本研究表明PDCD6基因可能是子宫内膜异位症的一个新的易感基因。版权归英国皇家所有（C）2012美国组织相容性与免疫遗传学学会。由爱思唯尔公司出版。保留所有权利。