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XPA基因多态性与食管癌、贲门癌发病风险的关联

Corrdation of XPA Polymorphisms to the Risk of Squamous Cell Carcinoma and Gastric Cardia Adenocarcinoma

  • 摘要: 目的 探讨XPA基因5'-非编码区转录启始密码子ATG上游第4位A23G和228密码子G709A单核苷酸多态性(Single nucleotide polymorphism,SNP)与河北省食管癌、贲门癌高发区-磁县和涉县人群食管鳞状细胞癌(Esophageal squamous cell carcinoma,ESCC)和贲门腺癌(Gastric cardiac adenocarcinoma,GCA)遗传易感性的关系。方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析方法检测327名ESCC患者、253名GCA患者和612名健康对照的XPA A23G和G709A SNP的基因型。结果 XPA基因A23G的等位基因和基因型频率在ESCC和健康对照之间,总体分布有显著性差异。与A/A基因型相比,A/G+G/G基因型可显著降低ESCC的发病风险。分层分析显示,此保护作用在非吸烟组和吸烟组人群中尤为明显。此保护作用在UGIC家族史阴性人群中也很明显。在GCA和健康对照之间,A23G等位基因频率和基因型频率总体分布无显著性差异(P〉0.05)。与A/A基因型相比,A/G+G/G基因型可显著降低GCA的发病风险。分层分析显示,在非吸烟组中,GCA患者组和健康对照之间,基因型频率分布有显著性差异(P〈0.05)。与A/A基因型相比,A/G+G/G基因型可显著降低非吸烟人群GCA的发病风险。结论 XPA基因A23G含突变等位基因(G)的基因型(A/G+G/G)可能是影响河北省食管癌、贲门癌的高发区——磁县和涉县人群ESCC发病风险的因素之一.

     

    Abstract: To investigate the association of two polymorphisms of XPA with the risk of susceptibility to esophageal squamous cell carcinoma ( ESCC) and gastric cardiac adenocarcinoma ( GCA) in a population of high incidence region of Hebei Province. Methods  Two polymorphisms of XPA (A23 G, at position24 from the ATG start condon and G709A, at codon 228, in exon 6) were genotyped by polymerase chain reaction rest riction f ragment length polymorphism ( PCR2RFL P) analysis in 327 ESCC patients, 253 GCA patient s and 612 healthy cont rols. Results  The overall genotype and allelotype dist ributions of XPA A23 G in ESCC patient s were significantly different f rom that in healthy cont rols ( P < 0. 05) . The A/ G+ G/ G genotype significantly decreased the risk of developing ESCC compared with A/ A genotype. Stratified analysis showed that the protective effect was more evident in non-smokers and smokers. The protective effect was more evident in subject s with negative history of U GIC. The overall genotype and allelotype dist ributions of XPA A23 Gin GCA patient s were not significantly different f rom that in healthy controls ( P > 0. 05) . Compared with A/ A genotype, A/ G + G/ G genotype significantly decreased the risk of GCA. When st ratified for status, the genotype dist ributions of XPA A23 G in GCA patient s were significantly different f rom that in healthy controls ( P < 0. 05) . Compared with A/ A genotype, A/ G +G/ G genotype significantly decreased the risk of GCA in non-smoker group . Conclusion  XPA23A/ G+ G/ G genotype may be one of the factors that affect the risk of developing ESCC and GCA in population in the high incidence region of Hebei Province.

     

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