苏皖地区汉族人群P53 codon 72多态性与前列腺癌易感性的关系

目的 研究中国苏皖地区汉族人群P53 codon 72多态性与前列腺癌(Pca)易感性的关系.方法 采用病例.对照研究,提取209例Pca患者(病例组)和235例非肿瘤患者(对照组)外周血基因组DNA,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)分析两组P53 codon 72位点的多态性,比较不同基因型与Pca易感性的关系.结果 以携带Pro/Pro基因型的对象为参照组,携带Arg/Pro基因型者患Pca的风险提高89%(OR=1.89,95%CI:1.20～2.97);携带Arg/Arg基因型者患Pca的风险提高101%(OR=2.01,95%CI:1.11～3.64).而携带Arg等位基因者(Arg/Pro+Arg/Arg)患Pca的风险是携带Pro/Pro基因型的1.94倍(OR=1.94,95%CI:1.25～2.99).在高龄(>70岁)、高体重指数(>23kg/m2)、非吸烟、非饮酒和无肿瘤家族史5组人群中,携带Arg等位基因的个体发病风险是Pro/Pro基因型个体的2倍以上,调整后的OR(95%CI)分别为2.22(1.24～3.96)、2.24(1.30～3.88)、2.60(1.27～5.31)、2.23(1.19～4.18)、2.18(1.33～3.57).结论 P53 codon 72与苏皖地区汉族人群Pca的易感性有关,Arg/Pro、Arg/Arg可能是Pca的易感基因型.     

结直肠癌患者的DNA修复基因XRCC1单核苷酸多态研究

目的 探讨DNA碱基切除修复基因XRCC1单核苷酸多态与结直肠癌易感性的关系.方法 采用病例-对照分子流行病学方法,以聚合酶链反应-限制性酶切片段多态性(PCRRFLP)方法分析120例结直肠癌患者和150例正常对照XRCC1基因单核苷酸多态Arg194Trp和Arg399Gln的基因型分布,并比较不同基因型与结直肠癌风险的关系.结果 正常人群中194Arg/Arg、Arg/Trp和Trp/Trp基因型频率分别为52.0%、42.0%和6.0%,而结直肠癌患者中分别为40.8%、46.7%和12.5%,分布差异有统计学意义(P＜0.05,趋势检验).与携带野生基因型Arg/Arg者比较,携带Trp/Trp基因型个体患结直肠癌的风险降低了1. 43倍(校正OR=2.43;95%CI=1.10～5.92).而194Arg/Trp基因型和Arg399Gln遗传多态则与结直肠癌风险无关.结论 DNA修复基因XRCC1 Arg194Trp多态可能是结直肠癌发生的遗传易感因素.     

X射线损伤修复交叉互补基因1 Arg399Gln、Arg280His和Arg194Trp位点多态性与胃癌易感性的相关性分析

目的探讨X射线损伤修复交叉互补基因1(XRCC1)Arg399Gln、Arg280His和Arg194Trp位点多态性与胃癌易感性的关系。方法选取120例胃癌患者(胃癌组)与120名健康体检自愿者(对照组)作为正常对照进行对比研究。取外周血提取DNA,采用聚合酶链反应-限制性片段长度多态性技术对XRCC1 Arg399Gln、Arg280His和Arg194Trp位点基因多态性进行检测分析,分析不同基因型与胃癌易感性的关系。结果 1 2组在性别、年龄、吸烟、饮酒、饮食特点等常见暴露因素比较差异均无统计学意义(P0.05)。2胃癌组患者的XRCC1基因194位点Arg/Arg多态基因型出现频率低于对照组(P0.05),Arg/Trp、Trp/Trp多态基因型及Arg/Trp+Trp/Trp变异基因型出现频率均明显高于对照组(P0.05)。3胃癌组患者的XRCC1基因280和399位点多态基因型及变异基因型出现频率与对照组比较差异均无统计学意义(P0.05)。结论从本研究结果初步得出,XRCC1 Arg399Gln和Arg280His位点多态性与胃癌易感性无关,而Arg194Trp位点多态性与胃癌的易感性有关。     

人类XRCC1-399单核苷酸多态性与原发性肝细胞癌的相关研究

目的以病例-对照研究方式探讨人类DNA修复基因XRCC1-399单核苷酸多态性(SNP)与HBV感染者的原发性肝细胞癌(HCC)的发生关系.方法72例HCC患者经病理检查证实,根据地缘、性别、年龄,按1:1～2比例匹配137例非HCC对照者.采用聚合酶链反应-限制片段长度多态性(PCR-RFLP)技术检测受试者XRCC1-399位SNP.结果(1)XRCC1-399SNP和年龄均与HCC的发生无关,但在XRCC1-399Arg/Arg受试者中,HCC的发生与年龄呈负相关(P=0.028);(2)HBV感染是HCC发生的肯定因素(P=0.007);在XRCC1-399Gln/Gln或Arg/Gln受试者中,伴HBV感染者HCC发生率(25.7%)远高于不伴HBV感染者(5.3%,P=0.047);(3)XRCC1-399Arg/Arg受试者HBV感染率与Gln/Gln或Arg/Gln受试者近似(36.6%对38.0%,P=0.052).结论(1)XRCC1-399Arg/Arg可能具有潜在抵抗HCC发生的作用;(2)XRCC1-399Gln/Gln或Arg/Gln联合HBV感染是HCC发生的高危因素.     

前列腺癌患者外周血中巨噬细胞移动抑制因子基因-173位点单核苷酸多态性的研究

目的 探讨前列腺癌(PCa)患者外周血中巨噬细胞移动抑制因子(MIF)基因-173位点单核苷酸多态性在PCa发生中的作用.方法采用病例对照研究方法提取259例PCa、301例非肿瘤非前列腺疾病患者外周血中基因组DNA,应用PCR-限制性片段长度多态性分析MIF基因-173位点的多态性,比较不同基因型与PCa易感性的关系,并分析基因多态性与年龄、吸烟情况、肿瘤家族史的关系.结果 PCa患者中携带*C等位基因比例为36%,显著高于对照组的15%;携带MIF-173*C等位基因的个体PCa发病风险为G/G基因型的2.96倍(OR=2.96,95%CI:1.92～4.57);年龄>70岁、浅吸烟、有肿瘤家族史人群携带MIF-173*C等位基因的个体PCa发病风险显著高于G/G基因型个体,校正OR值分别为3.66(95%CI:2.02～6.62),2.83(95%CI:1.07～7.45)和3.26(95%CI:1.24～8.55).结论 MIF-173*C等位基因可能与PCa发生有关,年龄、吸烟情况、肿瘤家族史是PCa发病中的重要影响因素.     

前列腺癌患者外周血中巨噬细胞移动抑制因子基因-173位点单核苷酸多态性的研究

目的 探讨前列腺癌(PCa)患者外周血中巨噬细胞移动抑制因子(MIF)基因-173位点单核苷酸多态性在PCa发生中的作用.方法采用病例对照研究方法提取259例PCa、301例非肿瘤非前列腺疾病患者外周血中基因组DNA,应用PCR-限制性片段长度多态性分析MIF基因-173位点的多态性,比较不同基因型与PCa易感性的关系,并分析基因多态性与年龄、吸烟情况、肿瘤家族史的关系.结果 PCa患者中携带*C等位基因比例为36%,显著高于对照组的15%;携带MIF-173*C等位基因的个体PCa发病风险为G/G基因型的2.96倍(OR=2.96,95%CI:1.92～4.57);年龄>70岁、浅吸烟、有肿瘤家族史人群携带MIF-173*C等位基因的个体PCa发病风险显著高于G/G基因型个体,校正OR值分别为3.66(95%CI:2.02～6.62),2.83(95%CI:1.07～7.45)和3.26(95%CI:1.24～8.55).结论 MIF-173*C等位基因可能与PCa发生有关,年龄、吸烟情况、肿瘤家族史是PCa发病中的重要影响因素.     

前列腺癌患者外周血中巨噬细胞移动抑制因子基因-173位点单核苷酸多态性的研究

目的 探讨前列腺癌(PCa)患者外周血中巨噬细胞移动抑制因子(MIF)基因-173位点单核苷酸多态性在PCa发生中的作用.方法采用病例对照研究方法提取259例PCa、301例非肿瘤非前列腺疾病患者外周血中基因组DNA,应用PCR-限制性片段长度多态性分析MIF基因-173位点的多态性,比较不同基因型与PCa易感性的关系,并分析基因多态性与年龄、吸烟情况、肿瘤家族史的关系.结果 PCa患者中携带*C等位基因比例为36%,显著高于对照组的15%;携带MIF-173*C等位基因的个体PCa发病风险为G/G基因型的2.96倍(OR=2.96,95%CI:1.92～4.57);年龄>70岁、浅吸烟、有肿瘤家族史人群携带MIF-173*C等位基因的个体PCa发病风险显著高于G/G基因型个体,校正OR值分别为3.66(95%CI:2.02～6.62),2.83(95%CI:1.07～7.45)和3.26(95%CI:1.24～8.55).结论 MIF-173*C等位基因可能与PCa发生有关,年龄、吸烟情况、肿瘤家族史是PCa发病中的重要影响因素.     

前列腺癌患者外周血中巨噬细胞移动抑制因子基因-173位点单核苷酸多态性的研究

目的 探讨前列腺癌(PCa)患者外周血中巨噬细胞移动抑制因子(MIF)基因-173位点单核苷酸多态性在PCa发生中的作用.方法采用病例对照研究方法提取259例PCa、301例非肿瘤非前列腺疾病患者外周血中基因组DNA,应用PCR-限制性片段长度多态性分析MIF基因-173位点的多态性,比较不同基因型与PCa易感性的关系,并分析基因多态性与年龄、吸烟情况、肿瘤家族史的关系.结果 PCa患者中携带*C等位基因比例为36%,显著高于对照组的15%;携带MIF-173*C等位基因的个体PCa发病风险为G/G基因型的2.96倍(OR=2.96,95%CI:1.92～4.57);年龄>70岁、浅吸烟、有肿瘤家族史人群携带MIF-173*C等位基因的个体PCa发病风险显著高于G/G基因型个体,校正OR值分别为3.66(95%CI:2.02～6.62),2.83(95%CI:1.07～7.45)和3.26(95%CI:1.24～8.55).结论 MIF-173*C等位基因可能与PCa发生有关,年龄、吸烟情况、肿瘤家族史是PCa发病中的重要影响因素.     

前列腺癌患者外周血中巨噬细胞移动抑制因子基因-173位点单核苷酸多态性的研究

目的 探讨前列腺癌(PCa)患者外周血中巨噬细胞移动抑制因子(MIF)基因-173位点单核苷酸多态性在PCa发生中的作用.方法采用病例对照研究方法提取259例PCa、301例非肿瘤非前列腺疾病患者外周血中基因组DNA,应用PCR-限制性片段长度多态性分析MIF基因-173位点的多态性,比较不同基因型与PCa易感性的关系,并分析基因多态性与年龄、吸烟情况、肿瘤家族史的关系.结果 PCa患者中携带*C等位基因比例为36%,显著高于对照组的15%;携带MIF-173*C等位基因的个体PCa发病风险为G/G基因型的2.96倍(OR=2.96,95%CI:1.92～4.57);年龄>70岁、浅吸烟、有肿瘤家族史人群携带MIF-173*C等位基因的个体PCa发病风险显著高于G/G基因型个体,校正OR值分别为3.66(95%CI:2.02～6.62),2.83(95%CI:1.07～7.45)和3.26(95%CI:1.24～8.55).结论 MIF-173*C等位基因可能与PCa发生有关,年龄、吸烟情况、肿瘤家族史是PCa发病中的重要影响因素.     

前列腺癌患者外周血中巨噬细胞移动抑制因子基因-173位点单核苷酸多态性的研究

目的 探讨前列腺癌(PCa)患者外周血中巨噬细胞移动抑制因子(MIF)基因-173位点单核苷酸多态性在PCa发生中的作用.方法采用病例对照研究方法提取259例PCa、301例非肿瘤非前列腺疾病患者外周血中基因组DNA,应用PCR-限制性片段长度多态性分析MIF基因-173位点的多态性,比较不同基因型与PCa易感性的关系,并分析基因多态性与年龄、吸烟情况、肿瘤家族史的关系.结果 PCa患者中携带*C等位基因比例为36%,显著高于对照组的15%;携带MIF-173*C等位基因的个体PCa发病风险为G/G基因型的2.96倍(OR=2.96,95%CI:1.92～4.57);年龄>70岁、浅吸烟、有肿瘤家族史人群携带MIF-173*C等位基因的个体PCa发病风险显著高于G/G基因型个体,校正OR值分别为3.66(95%CI:2.02～6.62),2.83(95%CI:1.07～7.45)和3.26(95%CI:1.24～8.55).结论 MIF-173*C等位基因可能与PCa发生有关,年龄、吸烟情况、肿瘤家族史是PCa发病中的重要影响因素.     

Relationship between XRCC1 polymorphisms and susceptibility to prostate cancer in men from Han, Southern China

Aim： To investigate the association among XRCC1 polymorphisms, smoking, drinking and the risk of prostate cancer （PCa） in men from Han, Southern China. Methods： In a case-control study of 207 patients with PCa and 235 cancerfree controls, frequency-matched by age, we genotyped three XRCC1 polymorphisms （codons 194, 280 and 399） using the polymerase chain reaction-restriction fragment length polymorphism （PCR-RELP） method. Results： Among the three polymorphisms, we found that the XRCC1 Arg399Gln variant allele was associated with increased PCa risk （adjusted odd ratio [OR]： 1.67, 95% confident interval [CI]： 1.11-2.51）, but the XRCC1 Arg 194Trp variant allele had a 38% reduction in risk of PCa （adjusted OR： 0.62, 95% CI： 0.41-0.93）. However, there was no significant risk of PCa associated with Arg280His polymorphism. When we evaluated the three polymorphisms together, we found that the individuals with 194Arg/Arg wild-type genotype, Arg280His and Arg399Gln variant genotypes had a significantly higher risk of PCa （adjusted OR： 4.31; 95% CI： 1.24-14.99） than those with three wild-type genotypes. In addition, we found that Arg399Gln variant genotypes had a significant risk of PCa among heavy smokers （adjusted OR： 2.04; 95% CI： 1.03-4.05）. Conclusion： These results suggest that polymorphisms of XRCC1 appear to influence the risk of PCa and may modify risks attributable to environmental exposure.     

XRCC1 Arg399Gln and Arg194Trp polymorphisms in prostate cancer risk: a meta-analysis

Epidemiological studies have evaluated the association between X-ray repair cross-complementing group 1 gene (XRCC1) Arg399Gln and Arg194Trp polymorphisms and risk of prostate cancer (PCa). However, the results from the published studies on the association between these two XRCC1 polymorphisms and PCa risk are conflicting. To derive a more precise estimation of association between the XRCC1 polymorphisms and risk of PCa, we performed a meta-analysis. A comprehensive search was conducted to identify all case-control studies of XRCC1 polymorphisms and PCa risk. We used odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of the association. Overall, we found that both Arg399Gln and Arg194Trp polymorphisms were not significantly associated with PCa risk. However, in stratified analysis by ethnicity, we found that the Arg399Gln polymorphism was significantly associated with PCa risk in Asian population (Gln/Gln vs Arg/Arg: OR=1.46, 95% CI: 1.05-2.03, P=0.03; Gln/Gln vs Arg/Gln+Arg/Arg: OR=1.48, 95% CI: 1.12-1.95, P=0.01). In this meta-analysis, we found that both Arg399Gln and Arg194Trp polymorphisms were not related to overall PCa risk. However, in subgroup analysis we found a suggestion that XRCC1 399Gln allele might be a low-penetrent risk factor for PCa only in Asian men.     

DNA repair genes XPD and XRCC1 polymorphisms and risk of end-stage renal disease in Egyptian population

Abstract

DNA repair gene polymorphisms may affect DNA repair capacity and modulate susceptibility to end-stage renal disease (ESRD). We aimed to determine the association of polymorphisms in xeroderma pigmentosum complementation group D (XPD) and X-ray cross-complementing group 1 (XRCC1) with ESRD development. Polymorphisms in XPD codons 312 and 751 and XRCC1 codon 399 were genotyped in 98 patients undergoing hemodialysis and 102 healthy controls using polymerase chain reaction and restriction fragment length polymorphism. Patients having XRCC1-399 Arg/Gln genotype or XRCC1-399 Gln/Gln genotype had a significantly higher risk of ESRD than those with XRCC1-399 Arg/Arg [odds ratio (OR): 2.48; 95% confidence intervals (CI): 1.36–4.52; p?=?0.004 and OR: 4.05; 95% CI: 1.19–13.73; p?=?0.03, respectively]. We also found a significantly higher frequency of the XRCC1 399Gln allele in patients with ESRD than in controls (OR: 2.22; 95% CI: 1.16–4.25; p?=?0.02). Combination of the Arg/Gln or Gln/Gln genotypes of XRCC1 Arg399Gln polymorphism with Asp/Asn or Asn/Asn genotypes of XPDAsp312Asn or with the Lys/Gln or Gln/Gln genotypes of XPD Lys751Gln was significantly associated with the development of ESRD. Haplotypes association showed that association of Gln allele of XRCC1 Arg399Gln polymorphism with the Asn allele of XPDAsp312Asn polymorphism (p?=?0.004) or Gln allele of XRCC1 Arg399Gln polymorphism with the Gln allele of XPD Lys751Gln polymorphism (p?=?0.003) was highly significantly associated with the development of ESRD. This study revealed that XRCC1 Arg399Gln polymorphism may confer increased risk for the development of ESRD. Furthermore, larger studies should be conducted to confirm these results.     

Association between polymorphisms in the DNA repair genes XRCC1 and APE1, and the risk of prostate cancer in white and black Americans

PURPOSE: XRCC1 and APE1 are enzymes involved in the repair of DNA strand breaks and base damage that arise from various endogenous and exogenous oxidants. We determined whether polymorphisms in XRCC1 and APE1 increase the risk of prostate cancer. MATERIALS AND METHODS: We performed a case-control study in 228 white American men, 124 black American men, and 335 age, sex and race matched controls. Polymorphisms at codon 399 in XRCC1, and at codons 51 and 148 in APE1 were determined using an restriction fragment length polymorphism method. Frequencies were compared between cases and controls. RESULTS: A significantly increased risk of prostate cancer was observed in white men with the XRCC1(399Gln) allele (OR 1.6, 95% CI 1.1 to 2.4). When APE1 and XRCC1 polymorphisms were evaluated together, we found an increased risk of the XRCC1(399Arg/Gln+Gln/Gln)/APE1(51Gln/Gln) (OR 4.0, 95% CI 1.3 to 12.5) and XRCC1(399Arg/Gln+Gln/Gln)/APE1(148Asp/Asp) (OR 2.9, 95% CI 1.4 to 6.1) genotypes in white men. Significant associations were found between combined genotypes and prostate cancer risk with a dose-effect relationship in white men (trend test p = 0.035 and 0.039, respectively). No significant associations were observed between polymorphisms in these genes and prostate cancer risk in black men. CONCLUSIONS: Our results suggest that inherited variability in DNA repair capacity, as reflected by polymorphisms in XRCC1 and APE1, is a risk factor for prostate cancer.     

脂氧酶12 编码区遗传变异与胃癌发病的关系

目的：探讨位于脂氧酶12（LOX12）基因编码区Arg261Gln单核苷酸多态与胃癌发病风险的关系。方法：用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）方法检测148例胃癌患者和148例无肿瘤正常对照人群的LOX12的基因型,并以Logistic回归模型计算各基因型与胃癌发病风险的关系。结果：LOX12 Arg261Gln等位基因频率在胃癌组中（0.544）高于正常组（0.443）。与Arg/Arg基因型携带者相比,Gln/Gln基因型携带者发生胃癌的风险增加（OR=2.26,95%CI=1.15~4.46,P=0.018）,而杂合基因型Arg/Gln不增加胃癌发病风险（OR=1.37,95%CI=0.77~2.44,P=0.284）。结论：LOX12编码区Arg261Gln遗传变异可能是胃癌发病的重要遗传易感因素。     

DNA修复基因多态性与非肌层浸润性膀胱癌易感性的相关性

目的 探讨上海地区汉族人群中DNA修复基因多态性与非肌层浸润性膀胱癌遗传易感性的关系. 方法 采用Taqman探针实时荧光定量PCR技术、病例对照研究方法,采集研究对象外周静脉血,检测94例病理证实原发非肌层浸润性膀胱癌患者和304例非肿瘤对照者的3个DNA修复基因(XPC,XPG,XRCC1)中的3个单核苷酸多态性位点.应用非条件Logistic回归模型,调整混杂因素后,分析各基因型与非肌层浸润性膀胱癌发生的关系以及与肿瘤临床病理特征之间的关系. 结果 膀胱癌组的XPC 939 Lys/Gln和XPC 939Gln/Gln基因型频率(70.0%,63/90)显著高于对照组(60.9%,185/304),XPG 1104 Asp/His和XPG 1104 His/His基因型频率(79.2%,57/72)亦高于对照组(73.0%,203/278).调整性别、年龄、吸烟等因素后,XPC 939 Lys/Gln和XPC939Gln/Gln基因型频率在膀胱癌患者中明显增高(校正OR为1.89,95%CI 1.14～3.23,P=0.02);XPG 1104 Asp/His和XPG 1104 His/His基因型频率在膀胱癌患者中轻度增高(校正OR为1.07,95%CI 0.86～1.87,P=0.048).XRCC1 Arg399Gln多态性与膀胱癌无关性(校正OR为1.15,95%CI 0.55～2.40,p=0.27).XPC和XPG多态性与肿瘤临床病理特征之间均无相关性(P>0.05).结论 XPC Lys939Gln和XPG Asp1104His基因多态性与上海地区汉族人群非肌层浸润性膀胱癌易感性有关.     

Genetic polymorphism of sulfotransferase 1A1, cigarette smoking,hazardous chemical exposure and urothelial cancer risk in a Taiwanese population

Objectives: To investigate the association between genetic polymorphism of sulfotransferase1A1 (SULT1A1), cigarette smoking, hazardous chemical exposure and urothelial cancer risk in a Taiwanese population. Methods: In a hospital‐based case–control study, a total of 300 urothelial cancer (UC) cases and 300 cancer‐free controls frequency‐matched by age and gender were recruited from September 1998 to December 2005. The SULT1A1 arginine213histidine (Arg213His) polymorphism was genotyped using a polymerase chain reaction–restriction fragment length polymorphism method. Results: We found that the significantly increased UC risks of ever smokers and heavy smokers (≥28 pack‐years) were 2.1 (95% confidence interval [CI] = 1.4–3.3) and 2.2 (95% CI = 1.3–3.6), respectively. An increased UC risk of 1.8 (95% CI = 0.8–3.8) was observed among individuals with more than one item of hazardous chemical exposure, but it was not statistically significant. Compared with study subjects carrying the SULT1A1 Arg/Arg genotype, those with SULT1A1 Arg/His or His/His genotypes have a significantly decreased UC risk (Odds ratio [OR] = 0.5, 95% CI = 0.3–0.8). Heavy smokers carrying the SULT1A1 Arg/Arg genotype have a significantly increased UC risk (OR = 5.2, 95% CI = 2.3–11.6). Individuals who had been exposed to more than one item of hazardous chemicals and who carried the SULT1A1 Arg/Arg genotype have a significantly increased UC risk (OR = 3.7, 95% CI = 1.4–9.7). The highest significant increased UC risk (OR = 16.1, 95% CI = 2.9–87.2) was observed among ever smokers with hazardous chemical exposure and the SULT1A1 Arg/Arg genotype. Conclusions: SULT1A1 Arg213His polymorphism is associated with the development of UC, especially among cigarette smokers exposed to hazardous chemicals.     

DNA损伤修复基因XRCC1 Arg194Trp基因多态性与中国人群结直肠癌易感性的Meta分析

【摘要】 目的 探讨DNA损伤修复基因XRCC1 Arg194Trp基因多态性与中国人群结直肠癌易感性的关系。方法 按照制定的检索策略,通过计算机和手工检索相关数据库,收集有关XRCC1 Arg194Trp基因多态性与中国人群结直肠癌易感性的病例对照研究,按照纳入标准筛选文献、并从纳入文献中提取相关数据,以病例组和对照组基因型分布的比值比(OR)为效应指标,应用Stata12.0软件进行异质性检验,对各研究原始数据进行Meta合并,并行敏感性分析和发表偏倚的评估。结果〓本Meta分析共纳入11项病例对照研究,累积病例2710例,对照3567例。根据各研究间的异质性,采用不同的模型进行合并效应量。在等位基因比较(T vs C) [OR(95%CI)=1.18(1.01-1.39),P=0.036],纯合子比较模型(TT vs CC) [OR (95%CI)=1.39(1.02-1.90),P=0.038],显性模型(CT/TT vs CC) [OR(95%CI)=2.24(1.78-2.82),P<0.001] 以及隐性模型 (TT vs CT/CC) [OR(95%CI)=1.23(1.02-1.49),P=0.030]均存在显著的统计学差异。发表偏倚评估均未见明显偏倚。结论〓在中国人群中,携带突变等位基因T或突变纯合子TT的人群罹患CRC的风险有所升高,而在显性遗传模型中,携带有CT/TT基因型的人群其CRC的易感性明显升高。     

南京地区人群CYP2E1基因多态性及吸烟、饮酒与前列腺癌易感性

目的:探讨Ⅰ相代谢酶细胞色素P450 2E1(CYP2E1)基因RsaⅠ和PstⅠ位点多态性及吸烟、饮酒习惯与前列腺癌(PCa)发病风险的关系,并探讨基因与生活习惯在PCa发病中的联合作用。方法:采用PCR-RFLP技术检测109例原发性PCa患者及202例年龄匹配的男性非肿瘤患者外周血CYP2E1基因RsaⅠ和PstⅠ多态位点的基因型。结果:深吸烟(OR=2.29,95%CI:1.28～4.09)、重度吸烟史(OR=1.81,95%CI:1.02～3.22)等生活习惯为PCa易感因素。CYP2E1 C1/C1基因型与PCa易感性有显著相关(OR=1.71,95%CI:1.04～2.82),且与饮酒的联合作用明显与PCa易感性相关(OR=2.21,95%CI:1.06～4.59)。重度吸烟人群中,携带CYP2E1易感基因型(C1/C1)与不吸烟且携带非易感基因型(C1/C2或C2/C2)个体相比PCa的发病风险显著增高(OR=2.80,95%CI:1.20～6.56)。结论:携带CYP2E1易感基因型(C1/C1)并有烟酒嗜好者PCa的发病风险显著增高,且与烟草的暴露呈显著剂量反应关系。