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中国汉族人群中MTHFR基因变异与贲门腺癌易感性的关系

Genetic variations in MTHFR and gastric cardia adenocarcinoma susceptibility in the Chinese Han population.

作者信息

Wang Yafeng, Chen Shuchen, Kang Mingqiang, Tang Weifeng, Gu Haiyong, Yin Jun, Huang Ziyang

机构信息

Department of Cardiovascular, The Second Clinical Medical College of Fujian Medical University Quanzhou, Fujian Province, 362000, China.

Department of Thoracic Surgery, The Union Clinical Medical College of Fujian Medical University Fuzhou, Fujian Province, China.

出版信息

Int J Clin Exp Med. 2015 Oct 15;8(10):18936-44. eCollection 2015.

Abstract

Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms are associated with many types of cancers. The purpose of our study was to evaluate the effect of MTHFR single nucleotide polymorphisms (SNPs) on gastric cardia adenocarcinoma (GCA). We conducted a hospital-based case-control study. Three hundred and thirty cases with GCA and 608 controls were recruited. The ligation detection reaction (LDR) method was used to determine genotypes. The genotype MTHFR rs1801133 TT was significantly more frequent in cases than in controls (adjusted odds ratio (OR) = 1.46, 95% confidence interval (CI) = 1.04-2.05, P = 0.029) in a recessive model, after adjusting for age, sex and smoking and alcohol use. The haplotype MTHFR Grs4845882Ars4846048Trs1801133Crs9651118Ars3753584 was more frequent in cases than in controls (crude OR = 5.32, 95% CI = 2.34-12.10, P < 0.001). No association between other genotypes and haplotypes was observed. Our results suggest that the genotype MTHFR rs1801133 TT and the MTHFR Grs4845882Ars4846048Trs1801133Crs9651118Ars3753584 haplotype may be associated with susceptibility to GCA. Further studies are needed to confirm these findings.

摘要

亚甲基四氢叶酸还原酶(MTHFR)基因多态性与多种癌症相关。我们研究的目的是评估MTHFR单核苷酸多态性(SNP)对贲门腺癌(GCA)的影响。我们开展了一项基于医院的病例对照研究。招募了330例GCA患者和608例对照。采用连接检测反应(LDR)方法确定基因型。在隐性模型中,在对年龄、性别、吸烟和饮酒情况进行校正后,病例组中MTHFR rs1801133 TT基因型的频率显著高于对照组(校正比值比(OR)=1.46,95%置信区间(CI)=1.04 - 2.05,P = 0.029)。单倍型MTHFR Grs4845882Ars4846048Trs1801133Crs9651118Ars3753584在病例组中的频率高于对照组(粗OR = 5.32,95% CI = 2.34 - 12.10,P < 0.001)。未观察到其他基因型和单倍型之间存在关联。我们的结果表明,MTHFR rs1801133 TT基因型和MTHFR Grs4845882Ars4846048Trs1801133Crs9651118Ars3753584单倍型可能与GCA易感性相关。需要进一步研究来证实这些发现。

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