CYP2C19基因多态性与幽门螺杆菌感染后胃癌易感性研究

目的探讨CYP2C19基因多态性与幽门螺杆菌(Helicobacter pylori,Hp)感染后胃癌易感性。方法选择2015年4月-2018年4月北京市和平里医院收治的原发性胃癌患者119例作为胃癌组,同期收治的慢性胃炎患者100例作为对照组,检测两组患者幽门螺杆菌感染情况,并分析胃癌组与对照组患者CYP2C19基因多态性,以及Hp阳性胃癌组与Hp阳性对照组CYP2C19基因多态性。结果胃癌组患者Hp感染率为73.11%(87/119),对照组患者Hp感染率为63.00%(63/100),两组Hp感染率比较无显著差异。胃癌组患者中纯合子快代谢型33例(27.73%)、杂合子快代谢型47例(39.50%)、慢代谢型39例(32.77%),对照组患者中纯合子快代谢型31例(31.00%)、杂合子快代谢型42例(42.00%)、慢代谢型27例(27.00%),两组患者CYP2C19基因型分布比较差异无统计学意义。Hp阳性胃癌患者中纯合子快代谢型20例(22.99%)、杂合子快代谢型37例(42.53%)、慢代谢型35例(40.23%),Hp阳性对照组患者中纯合子快代谢型19例(30.16%)、杂合子快代谢型29例(46.03%)、慢代谢型15例(23.81%),两组Hp阳性患者CYP2C19基因型分布比较差异有统计学意义(P<0.05),其中Hp阳性胃癌患者慢代谢型患者构成比高于Hp阳性对照组。结论 CYP2C19慢代谢型可增加Hp阳性患者胃癌发生风险,需引起临床工作者的重视。     

有机磷杀虫剂中毒致中间期肌无力综合征的遗传易感性研究

目的　探讨代谢酶基因多态性与有机磷杀虫剂 (OPs)中毒致中间期肌无力综合征(IMS)遗传易感性的关系 ,为IMS易感人群的筛选和保护提供依据。方法　以山东省某地区医院收治入院的 14 7位急性OPs中毒患者为研究对象 ,采集外周静脉血 ,检测全血胆碱酯酶 (ChE)活力 ,并以限制性片段长度多态性、等位基因特异性扩增和单链构象多态性PCR技术 ,分别对CYP2E1(10 91C→T)和GSTP1(313A→G )、CYP1A1(4889A→G)、PON1第 5 5位点 (L→M )、GSTM1和GSTT1进行基因分型。结果　急性OPs中毒者入院时全血ChE活力IMS患者为 (38 2 2±17 5 6 ) % ,非IMS患者为 (42 4 9± 16 2 3) % ,差异无显著性 ,但IMS患者入院后全血ChE活力恢复速度明显慢于非IMS患者。PON1第 5 5位点杂合子和突变纯合子、GSTM1缺失及其与GSTT1均缺失者在IMS患者的分布百分率分别为 4 1 7%、2 2 2 %、6 9 4 %和 4 1 7% ,显著多于非IMS患者的30 6 %、3 6 %、4 5 9%和 19 8%。结论　在有机磷及其混剂中毒患者中 ,PON1第 5 5位点含有突变型等位基因、GSTM1及其与GSTT1均缺失者发生IMS的危险性增高。     

张家口市汉族围孕期女性细胞色素P450和谷胱甘肽硫转移酶基因多态性分析

目的了解河北省张家口市汉族围孕期女性细胞色素P450 1A1基因(CYP1A1)和谷胱甘肽硫转移酶基因M1(GSTM1)、T1(GSTT1)和P1(GSTT1)多态性分布特征。方法选取2018年8月-2020年10月在张家口市妇幼保健院进行围孕期保健的327名汉族健康女性为研究对象。采集口腔黏膜上皮脱落细胞,提取基因组DNA。使用荧光定量PCR方法检测CYP1A1、GSTM1、GSTT1和GSTP1基因多态性,并进行统计分析。结果 CYP1A1 Ile462Val基因位点野生纯合子AA基因型频率为64.2%,突变杂合子AG基因型频率为30.9%,突变纯合子GG基因型频率为4.9%,A等位基因频率为79.7%,G等位基因频率为20.3%;GSTP1 A313G基因位点野生纯合子AA基因型频率为59.3%,突变杂合子AG基因型频率为35.5%,突变纯合子GG基因型频率为5.2%,A等位基因频率为77.1%,G等位基因频率为22.9%; GSTM1缺失基因型频率为46.5%,非缺失基因型频率为53.5%,GSTT1缺失基因型频率为41.6%,非缺失基因型频率为58.4%。结论获取张家口市汉族围孕期女性细胞色素P450基因和谷胱甘肽硫转移酶系相关基因多态性的群体遗传学特征,其中GSTM1和GSTT1相关基因位点缺失人群占比较高,此类人群对环境毒物的解毒能力低下,更应主动规避不良环境暴露,并采用个体化营养干预来抵抗环境毒物带来的不良后果。     

白细胞介素13基因启动子区多态性与特发性肺纤维化的关系

目的 探讨白细胞介素13(IL-13)基因启动子区-1112(C/T)位点基因多态性与特发性肺纤维化(IPF)的相关性. 方法 研究组IPF患者70例,根据肺功能分为3个亚组,以A(弥散功能轻度下降,22例)、B(弥散功能中度下降,20例)、C(弥散功能重度下降,28例)组表示,80例健康体检者作为对照组.外周血提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测IL-13基因启动子区-1112(C/T)位点的基因多态性. 结果 研究组IL-13基因启动子区-1112(C/T)位点的基因多态性分布为CC纯合子28例(40.0%),TT纯合子6例(8.6%),CT杂合子36例(51.4%);对照组CC纯合子30例(37.5%),TT纯合子11例(13.8%),CT杂合子39例(48.8%),-1112(C/T)位点等位基因C、T在两组间分布及三种基因型之间构成比比较差异无统计学意义(P＞0.05).A组CT和TT基因型共9例(40.9%),B组CT和TT基因型共10例(50.0%),C组CT和TT基因型共23例(82.1%),三组间比较差异有统计学意义(P均＜0.05). 结论 IL-13基因启动子区-1112(C/T)位点基因多态性与IPF的发病无关,但与其肺弥散功能的损害程度有关.     

5,10-亚甲基四氢叶酸还原酶基因多态性与先天性心脏病的关联研究

目的研究亚甲基四氢叶酸还原酶基因(MTHFR)多位点多态性与先天性心脏病的关联。方法采用病例对照研究,根据样本量计算公式估计样本量,选择2012年12月至2013年11月在山东大学齐鲁儿童医院就诊的150例患有单纯性先心病的患儿为病例组,同期在该院儿保科进行查体的150例正常儿童为对照组,两组儿童性别年龄总体差异无统计学意义。利用聚合酶链反应-限制性片段长度多态性的方法检测两组儿童的MTHFR基因C677T、A1298C、G1793A的基因型及其分布。结果 677位点,与野生型纯合子CC比较,杂合子CT个体患先心病的风险较高(OR=2.249,95%CI 1.305~3.877,Ρ=0.003),突变纯合子TT个体患先心病的风险是野生型的3.121倍(95%CI 1.612~6.043,P=0.001)。携带突变等位基因T个体的患病风险是野生型C的1.813倍(95%CI 1.310~2.508,P=0.000)。1298位点突变杂合子AC患病风险是野生纯合子AA的2.177倍(95%CI 1.183~4.077,P=0.011)。携带突变等位基因C个体的患病风险是野生型A的2.017倍(95%CI1.128~3.604,P=0.016)。1793位点突变杂合子GA与野生纯合子GG频率在两组分布差异无统计学意义(P=0.145),等位基因G、A分布差异无统计学意义(Ρ=0.158)。组合基因型分析显示677与1298位点,1298与1793位点对先心病存在联合作用。结论 MTHFR C677T、A1298C突变是先心病的危险因素;MTHFR C677T与A1298C,MTHFR A1298C与G1793A对先心病存在联合作用     

贵州省苗族及布依族人群CYP1A1＊2C基因多态性研究

[目的]检测贵州省苗族及布依族正常人群细胞色素氧化酶1A1＊2C（CYP1A1＊2C）基因多态性。[方法]采用Taqman-MGB探针,通过实时定量PCR（real-time PCR）对贵州省三都县125名苗族及122名布依族人群的血液样本进行CYP1A1＊2C基因多态性分析,并采用χ2检验比较两民族该基因分布的差异。[结果]CYP1A1＊2C野生纯合子（基因型AA）、突变杂合子（基因型AG）、突变纯合子（基因型GG）在苗族及布依族中基因型频率分别为65.6%、28.0%、6.4%及68.9%、25.4%、5.7%;A和G在苗族及布依族中基因频率分别为79.6%、20.4%及81.6%、18.4%,两民族人群的基因多态性分布差异无统计学意义。[结论]中国贵州省苗族及布依族人群中CYP1A1＊2C基因型频率分布没有明显不同。     

江苏汉族正常人群NQO1基因常见位点多态性

[目的]探讨NQO1基因7个常见位点在江苏汉族人群中的多态性分布。[方法]应用聚合酶链式反应-限制性片断长度多态性(PCR-RFPL)、等位基因特异性引物-聚合酶链反应技术(AS-PCR)及普通Taqman探针等技术方法,对658例正常体检样本NQO1基因多位点进行分析。[结果]NQO1基因相关位点野生型纯合子、杂合子、突变纯合子3种基因型的分布频率分别是:rs1800566 44.8%,36.4%,18.8%;rs4986998 93.5%,6.2%,0.3%;rs10517 16.1%,60.1%,23.8%;编码区rs11555215和非编码区rs1050873,rs1063556,rs80564684个位点未检测到杂合子和突变纯合子。[结论]本研究结果与国内外相关报道有一定的差异。对了解不同种族、不同地域人群NQO1基因的遗传特征具有一定的参考价值。     

醌氧化还原酶1基因多态性与食管癌易感性关系的研究

目的探讨长治地区食管癌易感性与醌氧化还原酶1(NQO1)基因多态性的关系。方法采用1∶1配对的病例对照研究,对201对研究对象进行食管癌相关危险因素的问卷调查,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测NQO1C609T多态性位点的基因型,采用SPSS12.0统计软件对研究结果进行分析。结果病例组携带突变(T)等位基因的频率明显高于对照组(χ2=7.97,P<0.01);NQO1基因3种基因型在两组间差异有统计学意义(χ2=14.14,P<0.01),且携带有NQO1突变杂合子(C/T)和突变纯合子(T/T)的个体发生食管癌的危险性比携带野生纯合子(C/C)个体高,OR(95%CI)值分别为2.53(1.56~4.10)和2.68(1.60~4.48)。NQO1易感基因型与经常食用腌制食品存在交互作用(S=2.29,API=0.48)。结论NQO1突变基因型是食管癌的易感基因型,与该地食管癌发生的易感性有关,且与腌制食品存在协同作用。     

NQO1、GSTT1和GSTM1基因多态性与慢性苯中毒的遗传易感性

目的探讨NQO1、GSTT1和GSTM1基因多态性与慢性苯中毒遗传易感性之间的关系。方法选择100名慢性苯中毒病例为病例组及90名同期接苯但无苯中毒表现的同工种工人为对照组,应用PCR-RFLP及多重PCR方法判定NQO1、GSTT1和GSTM1基因型。结果携带NQO1C609TT/T基因型(纯合突变型)个体发生苯中毒的危险性是具有C/T基因型(杂合型)和C/C基因型(野生型)个体的2.82倍(95%CI1.42～5.58,P<0.05),是具有C/C基因型(野生型)个体的2.94倍(95%CI1.25～6.90,P<0.05);携带GSTT1缺失(null)基因型个体发生苯中毒的危险性是具GSTT1非缺失(non-null)基因型个体的1.91倍(95%CI1.05～3.45,P<0.05),未发现GSTM1基因型与苯中毒的关系。同时携带NQO1C609TT/T基因型、GSTT1缺失、GSTM1缺失任何两种基因型的个体发生苯中毒的危险性均高于同时携带野生型及非缺失基因型的个体;并且同时携带NQO1C609TT/T基因型、GSTT1缺失与GSTM1缺失个体接苯时发生苯中毒的危险性最高,是NQO1C609TC/T基因型和C/C基因型、GSTT1非缺失型(non-null)与GSTM1非缺失型(non-null)个体的20.41倍(95%CI3.79～111.11,P<0.01)。结论基因之间的交互作用在苯中毒的发生中起重要作用。同时携带NQO1C609TT/T基因型、GSTT1缺失基因型和GSTM1缺失基因型个体发生苯中毒的风险最     

CYP2E1和CYP1A1及白细胞介素-4基因多态性与三氯乙烯药疹样皮炎的关系

目的 研究代谢酶基因CYP2E1和CYP1A1以及白细胞介素(IL)-4的基因多态性与三氯乙烯(TCE)药疹样皮炎易感性的关系.方法 选择35例TCE药疹样皮炎病例作为病例组,选无皮肤损害的35名健康工人作为对照组.应用实时荧光定量聚合酶链反应(PCR)和TaqMan MGB探针技术,检测病例组和对照组CYP2E1、CYP1A1和IL-4基因的单核苷酸多态性(SNP),计算病例组和对照组的基因型与等位基因型频率.结果 CYP1A1基因(rs1048943)的SNP多态性检测结果显示,病例组G等位基因频率(37.1%)明显高于对照组,差异有统计学意义(P＜0.01);检测发现,病例组CYP2E1基因-1053 C→岬位点T等位基因频率(41.4%)明显高于对照组,差异有统计学意义(P＜0.01);对IL4基因588 C→岬位点(rs2243250)检测发现,病例组TT纯合突变频率(75.0%)明显高于对照组,差异有统计学意义(P＜0.01),T等位基因频率(87.5%)明显高于对照组,差异有统计学意义(P＜0.01).结论 CYP1A1、CYP2E1和IL-4基因的某些位点的改变可能与少数TCE敏感个体对接触TCE引起的超敏反应存在密切关系,CYP1A1、CYP2E1和IL-4的基因多态性可能是TCE药疹样皮炎患者易感性差异相关的遗传学因素之一.     

Association of genetic polymorphisms in CYP2E1, MPO,NQO1, GSTM1, and GSTT1 genes with benzene poisoning

Metabolic enzymes involved in benzene activation or detoxification, including NAD(P)H, quinone oxidoreductase 1 (NQO1), cytochrome P450 2E1 (CYP2E1), myeloperoxidase (MPO), glutathione-S-transferase mu-1 (GSTM1), and glutathione-S-transferase theta-1 (GSTT1), were studied for their roles in human susceptibility to benzene poisoning. The potential interactions of these metabolic enzymes with lifestyle factors such as cigarette smoking and alcohol consumption were also explored. We studied 156 benzene-poisoning patients and 152 workers occupationally exposed to benzene in South China. Sequencing, denaturing HPLC, restriction fragment-length polymorphism, and polymerase chain reaction were used to detect polymorphisms on the promoters and complete coding regions of NQO1, CYP2E1, MPO, and the null genotypes of GSTM1 and GSTT1. Seventeen single nucleotide polymorphisms (SNPs) were identified in NQO1, CYP2E1, and MPO genes, including 6 novel SNPs in CYP2E1 and MPO. Of the subjects who smoked and drank alcohol, an 8.15-fold [95% confidence interval (CI), 1.43-46.50] and a 21.50-fold (95% CI, 2.79-165.79) increased risk of benzene poisoning, respectively, were observed among the subjects with two copies of NQO1 with a C-to-T substitution in cDNA at nucleotide 609 (c.609 C>T variation; i.e., NQO1 c.609 T/T) compared to those with the heterozygous or wild (NQO1 c.609 C/T and c.609 C/C) genotypes. Our data also indicated that individuals with CYP2E1 c.-1293 C/C and c.-1293 G/C, and NQO1 c.609 T/T, and GSTT1 null genotypes tended to be more susceptible to benzene toxicity. Our results suggest that the combined effect of polymorphisms in NQO1, CYP2E1, and GSTT1 genes and lifestyle factors might contribute to benzene poisoning.     

代谢酶基因多态性与慢性苯中毒关联的logistic回归与多因子降维法分析

目的 研究多种代谢酶基因多态性与慢性苯中毒的关联.方法 采用病例-对照研究,以152名苯中毒工人为病例组,152名接触苯而没有中毒表现的工人为对照组.应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)、测序等技术检测CYP2E1等13个基因的30个单核苷酸多态性(SNP).Logistic回归模型分析主效应和2阶交互作用,多因子降维法分析高阶交互作用.结果 logistic回归分析表明,控制了性别、吸烟、饮酒、苯接触强度的影响后,GSTP1 rs947894、CYP1A1rs4646903、CYP2D6 rs1065852、CYP2D6 rs1135840有主效应(P＜0.05).EPHX1 rs1051740可能有主效应(P=0.06).GSTP1 rs947894与饮酒有交互作用;CYP2E1 rs3813867和EPHX1 rs3738047无主效应,但有交互作用;EPHX1 rs3738047与饮酒也有交互作用.未发现其他SNP与慢性苯中毒的关联.多因子降维法模型发现了1个联合作用最强的3阶交互作用,即CYP1A1 rs4646903、CYP2D6 rs1065852、CYP2D6rs1135840的3因子组合.结论 基因-基因、基因-环境交互作用是影响个体慢性苯中毒遗传易感性的重要方式.

Abstract：

Objective To explore the association of polymorphisms of metabolizing enzyme genes with chronic benzene poisoning(CBP) comprehensively by case-control design. Methods 152 CBP patients and 152 workers occupationally exposed to benzene without poisoning manifestations were investigated. 30single nucleotide polymorphisms (SNPs) in 13 genes such as CYP2E1 were tested by PCR-RFLP, sequencing approaches. Logistic regression model was used to detect main effects and 2-order interaction effects of gene and/or environment. Multifactor dimensionality reduction (MDR) was used to detect high-order gene-gene or gene-environment interactions. Results Based on logistic regression, the main effects of G57P7rs947894,EPHX1 rs1051740, CYP1A1 rs4646903, CYP2D6 rs1065852 and rs1135840 were found to be significant (P＜0.05) while the confounding factors of sex, cigarette smoking, alcohol consumption and the intensity of benzene exposure were controlled. EPHX1 rs1051740 might be associated with CBP (P=0.06). There existed 3types of interactions were as followed: interactions of GSTP1 rs947894 with alcohol consumption, CYP2E1rs3813867 with EPHX1 rs3738047, EPHX1 rs3738047 with alcohol consumption(P＜0.05), while the main effects of CYP2E1 rs3813867 and EPHX1 rs3738047 were not significant (P＞0.05). The other SNPs did not show any significant associations with CBP. According to MDR, a 3-order interaction with the strongest combined effect was found, i.e. the 3-factor combination of CYP1A1 rs4646903, CYP2D6 rs1065852 and CYP2D6rs1135840. Conclusion Gene-gene, gene-environment interactions are important mechanism to genetic susceptibility of CBP.     

NQO1和GSTT1基因多态性与慢性苯中毒的危险性

目的 探讨NQO1和GSTT1的基因多态性和苯中毒易感性的关系。方法 采用病例－对照研究，以152名苯中毒工人为病例组，152名接触苯而没有中毒表现的工人为对照组。采用名聚酶链反应（PCR）、变性高效液相色谱（DHPLC）和测序检测NQO1基因的启动子和全部编码区的单核苷酸多态性（single mucleotide polymorphism,SNP)，以多重PCR检测GSTT1的基因型。结果 在经常吸烟的人群中，携带NQO1c.609T/T基因型的个体接触苯时发生慢性苯中毒的危险性是C／C和C／T基因型的7．73倍（95％CI：1．71－34．97，P＝0．010）。在经常饮酒的人群中，携带NQO1第6外显子T／T突变纯合子的个体在接触苯时发生慢性苯中毒的危险性是C／C和C／T基因型的11．00倍（95％CI：1．89－63．83，P=0．005）。结论 携带NQO1c.609T/T基因型而又同时吸烟或饮酒的个体对苯中毒可能易感。     

NQO1基因多态性与慢性苯中毒遗传易感性的研究

目的　探讨NQO1基因多态性与慢性苯中毒遗传易感性之间的关系。方法　选择 10 0名慢性苯中毒工人为病例组及 90名同期接苯但无苯中毒表现的同工种工人为对照组 ,应用PCR RFLP方法判定NQO1基因型。结果　携带NQ0 1C6 0 9TT T基因型 (纯合突变型 )个体发生苯中毒的危险性是具有C T基因型 (杂合型 )和C C基因型 (野生型 )个体的 2 82倍 (95 %CI:1 4 2～ 5 5 8) ,是具有C C基因型 (野生型 )个体的 2 94倍 (95 %CI:1 2 5 - 6 90 ) ;并存在携带NQO1C6 0 9TT T基因型 (纯合突变型 )个体发生苯中毒的危险性高于携带NQO1C6 0 9TC T基因型 (杂合型 )个体、更高于C C基因型 (野生型 )个体的趋势 (χ2trend=6 0 1,P =0 0 14 )。结论　携带NQO1C6 0 9T纯合突变基因型 (T T)个体接苯时发生苯中毒的危险性增高 ,考虑此基因可作为易感性生物标志物 ,用于苯作业工人上岗前的筛检     

NQO1基因ns-cSNP与淮安汉族人群食管癌易感性的关系

目的探讨依赖还原型辅酶Ⅰ／Ⅱ醌氧化还原酶1（quinone oxidoreductase1,NQO1）基因非同义编码SNP（C609T、CA65T、G406C）与淮安汉族人群食管癌易感性的关系。方法采用1：1配对的病例-对照研究,选择淮安地区原发性食管癌患者和对照者各106例。采用PCR—RFLP和AS—PCR技术检测研究对象的基因型,比较不同基因型与食管癌易感性的关系。结果在对照组与病例组中均未检测到NQ01 406C／C基因型;未发现NQ01 CA65T多态性与淮安汉族人群食管癌易感性的关系;携带NQO1 609T等位基因的个体与对照组相比,其患食管癌的易感性升高（OR=4．76,95％CI：1．064～3.397）。结论NQO1 C609T基因多态可能与食管癌的发生有关。     

NQO1C609T、XRCC1G28152A基因多态性与吸烟的交互作用和胃癌的关系

目的 探讨NQO1C609T、XRCC1G28152A基因多态性与吸烟的交互作用和胃癌的关系.方法 采用1∶1配对病例对照研究方法,应用PCR-RFLP对基因多态性进行分析,根据交互系数γ判断交互作用类型,探询胃癌可能的遗传及环境因素.结果 334例胃癌患者,平均年龄在57岁,其中男性占65.3%;病例组吸烟率(55.09%)显著高于对照组(36.53%);NQO1C609T基因杂合突变型(CT)、纯合突变型(TT)增加了胃癌的发病风险(OR值分别为1.507、3.050);XRCC1G28152A基因多态性与胃癌遗传易感性没有关系;同时携带XRCC1AG和NQO1TT个体较XRCC1AG和NQO1CC个体胃癌的发病增加2.789倍;携带XRCC1GG和NQO1TT个体的胃癌发病风险是XRCC1GG和NQO1CC个体的4.448倍;NQO1纯合突变型(TT)与吸烟在胃癌发生中有正向交互作用(OR=4.057,γ=1.272),XRCC1纯合突变型(GG)与吸烟在胃癌发生中有正向交互作用(OR=3.094,γ=2.070).结论 NQO1、XRCC1基因多态性与吸烟的交互作用增加了胃癌发病风险.胃癌的发生表现为基因及环境因素综合作用的结果.

Abstract：

Objective To investigate the relationship between polymorphism of NAD (P)H quinone oxidoreductase 1 (NQO1)and X-ray repair cross-complementing group 1 (XRCC1) and their correlation with smoking on the susceptibility to gastric cancer. Methods A 1:1 case-control study of 334 patients with primary gastric cancer, with non-cancer or alimentary inpatients as control group (matched for ages ± 5 years, sex and reqion) in Anhui province was conducted to analyze theNQO1C609T and XRCC1G28152A. Gene types by PCR-based restriction fragment length polymorphism techniques. Interaction index (γ) was calculated to determine the type of gene- environment interaction. Results The average age of 334 cases of gastric cancer patients was 57 years, with 65.3% of them were male. Smoking rate in the case group (55.09%) was significantly higher than in the control group (36.53%). The consequence showing that it carried the heterozygous variant (CT)or homozygous variant (TT) of NQO1 could enhance the risk of gastric cancer(OR= 1.507,3.050),but not the XRCC1G28152A gene polymorphism or the susceptibility to gastric cancer. At the same time,individuals that carrying XRCC1AG and NQO1TT could increase 2.789 times the incidence of gastric cancer than those who carrying the XRCC1AG or NQO1CC. The gastric cancer risk of XRCC1GG individuals that carrying NQO1TT was 4.448 times higher than those who carrying XRCC1GG or NQO1 CC. The positive interactions of NQO1 homozygous variant (TT) , XRCC1 homozygous variant (GG) and smoking were revealed in the occurrence rates of gastric cancer (OR=3.094,γ =2.070). Conclusion Our research findings showed that the significant interactions between genetic polymorphisms of NQO1, XRCC1 and smoking added the risk of gastric cancer, while genetic and environmental hazardous factors co-effecting the development of gastric cancer.     

“NQO1 Gene C609T Polymorphism (dbSNP: rs1800566) and Digestive Tract Cancer Risk: A Meta-Analysis.”

Several studies reported that polymorphism C609T (rs1800566) in (NAD(P)H): quinoneoxidoreductase 1 (NQO1) gene is associated with risk to digestive tract (DT) cancers, like esophageal cancer (EC), gastric cancer (GC), and colorectal cancer (CRC). Authors conducted a meta-analysis to investigate association between C609T polymorphism and DT cancer risk. Eligible studies were extracted from the databases of PubMed, Google Scholar, Science Direct, and Springer Link. All retrieved articles were evaluated. All statistical analyses were performed using Open Meta-Analyst and MIX1.7 programs. A total of 34 studies including 12,043 DT cancer cases and 15,209 healthy controls were included in the present meta- analysis. Results of meta-analysis revealed a significant association between NQO1 C609T polymorphism and DT cancer risk adopting all 5 genetic models (T vs. C: OR = 1.21, 95% CI = 1.11–1.31, p < 0.001; TT vs. CC: OR = 1.48, 95% CI = 1.22–1.79, p < 0.001; TT + CT vs. CC: OR = 1.23, 95% CI = 1.12–1.35, p < 0.001; TT vs. CT + CC: OR = 1.36, 95% CI = 1.15–1.60, p < 0.001; CT vs. CC: OR = 1.16, 95% CI = 1.07–1.27, p < 0.001). In the stratified analysis based on cancer types, significant associations were observed between NQO1 C609T polymorphism and GC (OR = 1.38, 95% CI = 1.11–1.72, p = 0.003) and CRC (OR = 1.18, 95% CI = 1.06–1.30, p = 0.001), but not with EC (OR = 1.16, 95% CI = 0.99–1.35, p = 0.06). Furthermore, stratified analysis based on ethnicity indicated that there was a significant association between NQO1 C609T polymorphism and DT cancer risk in the Asian (TT vs. CC: OR = 1.55, 95% CI = 1.21–2.00, p ≤ 0.001) as well as in Caucasian populations (TT vs. CC: OR = 1.34, 95% CI = 1.04–1.73, p = 0.02). In conclusion, the results of meta-analysis suggested that the NQO1 C609T polymorphism is a risk factor for DT cancers, including GC and CRC.