目的探讨表皮细胞生长因子（epidermal growth factor，EGF）基因61A／G多态性与结肠癌风险的相关性。方法计算机检索Pubmed、EMABSE、CJFD、CBM、CNKI、VIP及WanFangData，检索时间截止至2013年2月28日，收集关于EGF61A／G基因多态性...目的探讨表皮细胞生长因子（epidermal growth factor，EGF）基因61A／G多态性与结肠癌风险的相关性。方法计算机检索Pubmed、EMABSE、CJFD、CBM、CNKI、VIP及WanFangData，检索时间截止至2013年2月28日，收集关于EGF61A／G基因多态性与结肠癌易感性的病例一对照研究。由2位评价者按照纳入标准和排除标准独立选择文献、提取资料、评价质量，采用RevMan5．1和Stata12．0软件进行Meta分析。结果共纳入5个病例一对照研究，839例患者和844例对照者。Meta分析结果显示，3个遗传模型中EGF基因61A／G多态性与结肠癌风险的相关性差异均有统计学意义[GG＋AG vs AA：OR=1．43，95％CI：1．10—1．84；GG vs sAG＋AA：OR=1．67，67％CI：1．10—2．53；GG vs AA：OR=2．17，95％CI：1．54～3．06]，而在AG vs AA遗传模型中，两者差异无统计学意义（OR=1．16，95％CI：0．89～1．53）。结论EGF61A／G基因多态性与结肠癌易感性相关，基因型GG和AG＋GG可增加罹患结肠癌的风险。展开更多
Background & Aims: The pregnane X receptor (PXR) regulates an array of genes involved in the response to xenobiotics. Evidence from several studies suggests that xenobiotic metabolism may play a role in inflammato...Background & Aims: The pregnane X receptor (PXR) regulates an array of genes involved in the response to xenobiotics. Evidence from several studies suggests that xenobiotic metabolism may play a role in inflammatory bowel disease (IBD) and that low levels of PXR may be associated with disease expression. The aim of this study was to investigate the association of functional polymorphisms of the PXR encoding gene (NR1I2) with disease in IBD populations. Methods: This was a case-control study examining 8 NR1I2 single nucleotide polymorphisms (SNPs) previously associated with altered activity of PXR-regulated genes in an Irish cohort including 422 patients with IBD and 350 ethnically matched controls. Results: We showed significant associations of NR1I2 with IBD, Crohn’s disease (CD), and ulcerative colitis (UC) groups compared with a control population for SNPs - 23585 (IBD: P = .000008; odds ratio [OR], 1.62; 95% confidence interval [CI], 1.31- 2.00) and - 24381 (IBD: P = .0002; OR, 1.50; 95% CI, 1.21- 1.84). SNPs 7635 (P = .0008) and 8055 (P = .007) were found to be associated with IBD and CD but not UC. Risk of IBD is strongly correlated to genotype at these sites, especially for the - 25385CC genotype (P = .00001;OR, 2.92; 95% CI, 1.87- 4.66). We also show specific correlations of IBD phenotype with genotypes and haplotypes in the patient group. Conclusions: These results show that genetic variation in the PXR encoding gene, which has been associated with altered activity of PXR, is strongly associated with susceptibility to IBD, CD, and UC.展开更多
文摘目的探讨表皮细胞生长因子（epidermal growth factor，EGF）基因61A／G多态性与结肠癌风险的相关性。方法计算机检索Pubmed、EMABSE、CJFD、CBM、CNKI、VIP及WanFangData，检索时间截止至2013年2月28日，收集关于EGF61A／G基因多态性与结肠癌易感性的病例一对照研究。由2位评价者按照纳入标准和排除标准独立选择文献、提取资料、评价质量，采用RevMan5．1和Stata12．0软件进行Meta分析。结果共纳入5个病例一对照研究，839例患者和844例对照者。Meta分析结果显示，3个遗传模型中EGF基因61A／G多态性与结肠癌风险的相关性差异均有统计学意义[GG＋AG vs AA：OR=1．43，95％CI：1．10—1．84；GG vs sAG＋AA：OR=1．67，67％CI：1．10—2．53；GG vs AA：OR=2．17，95％CI：1．54～3．06]，而在AG vs AA遗传模型中，两者差异无统计学意义（OR=1．16，95％CI：0．89～1．53）。结论EGF61A／G基因多态性与结肠癌易感性相关，基因型GG和AG＋GG可增加罹患结肠癌的风险。
文摘Background & Aims: The pregnane X receptor (PXR) regulates an array of genes involved in the response to xenobiotics. Evidence from several studies suggests that xenobiotic metabolism may play a role in inflammatory bowel disease (IBD) and that low levels of PXR may be associated with disease expression. The aim of this study was to investigate the association of functional polymorphisms of the PXR encoding gene (NR1I2) with disease in IBD populations. Methods: This was a case-control study examining 8 NR1I2 single nucleotide polymorphisms (SNPs) previously associated with altered activity of PXR-regulated genes in an Irish cohort including 422 patients with IBD and 350 ethnically matched controls. Results: We showed significant associations of NR1I2 with IBD, Crohn’s disease (CD), and ulcerative colitis (UC) groups compared with a control population for SNPs - 23585 (IBD: P = .000008; odds ratio [OR], 1.62; 95% confidence interval [CI], 1.31- 2.00) and - 24381 (IBD: P = .0002; OR, 1.50; 95% CI, 1.21- 1.84). SNPs 7635 (P = .0008) and 8055 (P = .007) were found to be associated with IBD and CD but not UC. Risk of IBD is strongly correlated to genotype at these sites, especially for the - 25385CC genotype (P = .00001;OR, 2.92; 95% CI, 1.87- 4.66). We also show specific correlations of IBD phenotype with genotypes and haplotypes in the patient group. Conclusions: These results show that genetic variation in the PXR encoding gene, which has been associated with altered activity of PXR, is strongly associated with susceptibility to IBD, CD, and UC.
