CYP1A1、GSTM1基因多态性与肺癌易感性的研究

目的:探讨CYP1A1、GSTM1基因多态性与肺癌易感性之间的相关性。方法:利用RFLP-PCR(限制性片段长度多态性-聚合酶链反应)方法检测65例原发性肺癌和60例非肿瘤患者CYP1A1、GSTM1基因,再用NcoI及HinfI两种内切酶识别CYP1A1等位基因亚型。结果:1)肺癌组与对照组CYP1A1等位基因型Ile/Ile、Ile/Val、Val/Val的频率总体分布无显著性差异;但肺癌组CYP1A1(Val/Val)基因型频率(18.5%)明显高于对照组(8.3%),两组差异有显著性(P<0.05)。2)肺癌组GSTM1(-)基因型的频率(63.1%)明显高于对照组(45.0%),P<0.05。3)两种等位基因联合分析发现,与携带CYP1A1(Ile/Ile)/GSTM1(+)基因型的个体相比:CYP1A1(Ile/Ile)/GSTM1(-)以及CYP1A1(Ile/Val+Val/Val)/GSTM1(+)基因型个体患肺癌的风险度较高,OR分别为3.82(95.0%CI,1.27～11.45)和3.5(95.0%CI,1.18～10.41);而CYP1A1(Val/Val)/GSTM1(-)基因型个体患肺癌的风险度最高,OR为10.5(95.0%CI,1.70～64.73)。4)进一步分层分析发现,CYP1A1(Ile/Val+Val/Val)等位基因型主要增加鳞癌的危险性;而GSTM1基因型组织类型无明显的相关性。5)在分析吸烟对肺癌易感性的影响时发现,CYP1A1(Ile/Val+Val/Val)及GSTM1(-)等位基因型与吸烟有协同作用,并与至发病时的累积吸烟量有关。结论:CYP1A1(Val/Val     

CYP1A1 GSTM1基因多态性和吸烟与肺癌易感性关系的病例对照研究

目的:探讨天津市居民致癌物代谢酶CYP1A1和GSTM1基因多态性对肺癌易感性的影响。方法:利用限制性片断长度多态性-聚合酶链反应(RFLP-PCR)方法检测原发性肺癌患者和健康对照者细胞色素P450酶基因CYP1A1Msp位点和谷胱甘肽硫转移酶基因GSTM1的多态性情况。结果:肺癌组与对照组之间CYP1A1和GSTM1基因型分布差异均存在统计学显著意义(P<0.05)。携带CYP1A1变异基因型或GSTM1阴性基因型的个体患肺癌的危险性增高,比值比(OR)分别达到2.44(1.04～5.81)和1.84(1.03～3.29)。多因素分析结果显示具有CYP1A1变异基因型、GSTM1阴性基因型的吸烟个体患肺癌的风险较大。结论:CYP1A1Msp位点变异基因型和GSTM1阴性基因型可能是肺癌的易感因素,吸烟与肺癌易感基因之间具有协同作用。     

CYP1A1,GSTM1基因型与烟酒诱发人体内淋巴细胞微核的形成

目的: 探讨代谢酶CYP1A1和GSTM1等位基因型对烟酒诱发人体内淋巴细胞微核的影响.方法:分别应用等位基因特异性(AS)和多重差别(MD)-PCR检测CYP1A1和GSTM1的等位基因型,应用末梢血微核法检测体内淋巴细胞微核.结果:与无吸烟史健康人群的淋巴细胞平均微核率(MNF 0.24‰)相比,吸烟组MNF显著增加(0.65‰,P＜0.05),重度饮酒可增强这一效应(0.89‰,P＜0.01):与无吸烟史的非易感联合基因型(CYP1A1 I1e/I1e*GSTM1+(+/+和+/0),CYP1A1 I1e/I1e*GSTM1 0/0和CYP1A1 I1e/Val*GSTM1+)个体的MNF(0.42‰)相比,吸烟使GSTM1 0/0基因型个体的MNF显著上升(0.75‰,P＜0.05),并可使CYP1A1 Val/Val基因型和易感联合基因型(CYP1A1 I1e/Val*GSTM1 0/0,CYP1A1 Val/Val*GSTM1+和CYP1A1 Val/Val*GSTM1 0/0)个体的MNF均上升约1倍(0.83‰和0.85‰,0.10＞P＞0.05).结论:吸烟诱发体内淋巴细胞MNF显著增加,重度饮酒增强这一效应.烟酒诱发微核形成与个体CYP1A1和GSTM1的遗传多态性密切相关.     

GSTM1和CYP1A1基因多态性与宫颈癌发生及发展的相关性

目的:探讨谷胱苷肽硫转移酶M1（GSTM1）和CYP1A1 Exon7基因多态性与宫颈癌发生发展的关系。方法:选取2013年5月至2015年5月我院收治的宫颈癌患者184例为宫颈癌组,203例进行体检的健康人群为参照组。用限制性片段长度多态性-聚合酶链反应（RFLP-PCR）检测所有受试者GSTM1和CYP1A1 Exon7基因型;记录无进展生存期（PFS）,并随访观察生存和死亡情况。结果:GSTM1分为野生型（wt）和突变缺失型（null）,CYP1A1 Exon7野生型为Ⅱe/Ⅱe,突变型包括突变纯合型（Val/Val）、突变杂合型（Ⅱe/Val）。宫颈癌组携带GSTM1突变型基因型比例与参照组间比较,差异无统计学意义（P＞0.05）;宫颈癌组携带CYP1A1 Exon7突变型基因型比例显著高于参照组（P＜0.05）,且携带突变型基因型个体患宫颈癌的风险是携带野生型基因型个体的2.333倍。GSTM1、CYP1A1 Exon7基因型与宫颈癌患者年龄、病理分期、肿瘤分化程度、肿瘤直径及淋巴结转移均无关（P＞0.05）,与患者病理类型有关（P＜0.05）。GSTM1、CYP1A1 Exon7突变型宫颈癌患者PFS中位数与野生型患者比较,差异均无统计学意义（P＞0.05）。GSTM1、CYP1A1 Exon7突变型宫颈癌患者基因型与宫颈癌患者预后无关（P＞0.05）。结论:GSTM1及CYP1A1 Exon7基因多态性是宫颈癌发生发展的危险因素,尤其是CYP1A1 Exon7突变型,为预防宫颈癌提供依据。     

CYP1A1、GSTM1基因多态性及其联合作用与食管癌的易感性

目的探讨CYP1A1、GSTM1基因多态性及其联合作用与新疆汉族人食管癌易感性的关系。方法采用聚合酶链式反应-连接酶检测反应分析方法检测107例食管癌患者和204例非食管癌患者的CYP1A1(rs1048943、rs4646421和rs4646903)和GSTM1(缺失型和rs2071487)的基因型。结果CYP1A1基因rs1048943位点的等位基因和基因型频率在病例组和对照组之间比较,总体分布差异有统计学意义(χ² =5.52,P=0.019)。与A/A基因型相比,GG+AG基因型可增加食管癌的发病风险(OR=1.79,OR95%CI:1.10~2.92);GSTM1基因缺失型和非缺失型在病例组和对照组中的分布频率分别为68.69%、31.31%和48.39%、51.61%,在两组间的分布差异有统计学意义(χ²=10.55,P=0.001;OR=2.34,OR95%CI:1.40~3.91)。结论CYP1A1基因rs1048943位点多态性和GSTM1基因缺失型与新疆地区汉族人食管癌易感性有相关性。     

GSTM1和CYP2E1基因多态性与肺癌遗传易感性关系的研究

背景与目的肺癌是中国人群恶性肿瘤死因的首位，其发病可能与肺癌人群中某些肺癌相关基因的遗传多态性有关。本研究旨在探讨细胞色素P4502E1(CYP2E1)基因RsaⅠ／PstⅠ多态性和谷胱甘肽转移酶M1(GSTM1)基因多态性与肺癌易感性之间是否存在相关性。方法应用PCR-RFLP和PCR法检测99例人非小细胞肺癌患者和66例同期住院的肺良性疾病患者CYP2E1基因的RsaⅠ／PstⅠ多态性和GSTM1基因多态性，并分析其与肺癌遗传易感性的相关性。结果(1)CYP2E1基因RsaⅠ／PstⅠ多态性的三种基因型在肺癌组和对照组的频率差异没有统计学意义(χ^2=1．374，P=0．241)。(2)肺癌组GSTM1(-)基因型频率显著高于对照组(分别为57．6％和40．9％)(χ^2=4．401，P=0．036)。(3)携带GSTM1(-)基因型的个体患肺癌的危险性显著高于GSTM1( )基因型的个体(OR=1．96，95％CI=1．042～3．689，P=0．037)。(4)与携带c1／c2或c2／c2基因型的不吸烟个体比较，携带c1／c1基因型的吸烟者患肺癌的风险显著增加(OR=3．525，95％CI=1．168～10．638，P=0．025)。(5)联合分析CYP2E1基因RsaⅠ／PstⅠ多态性和GSTM1基因多态性，携带有c1／c1和GSTM1(-)基因型的个体患肺癌的风险显著高于携带GSTM1( )和c1／c2或c2／c2基因型的个体(OR=3．449，95％CO=1．001～11．886，P=0．050)。按照吸烟因素分层，携带有GSTM1(-)和c1／c1基因型的不吸烟个体患肺癌的风险显著高于携带GSTM1( )和c1／c2或c2／c2基因型的不吸烟个体(OR=11．553，95％CI=1．068-124．944，P=0．044)，携带有GSTM1(-)和c1／c2或c2／c2基因型的不吸烟个体患肺癌的风险同样显著高于携带GSTM1( )和c1／c2或c2／c2基因型的不吸烟个体(OR=13．374，95％CI=1．258～142．166，P=0．032)。结论(1)GSTM1(-)基因型增加人群患肺癌的风险；(2)CYP2E1的c1／c1基因型和GSTM1(-)基因型的联合可增加吸烟和不吸烟人群患肺癌的风险。     

CYP1A1和GSTM1基因多态性及其对个体肺癌易感性的联合效应:meta分析

背景与目的谷胱甘肽转移酶M1(glutathione S-transferase M1,GSTM1)和细胞色素P4501A1(cyto-chrome P450A1,CYP1A1)均存在基因多态性,并且对肺癌发病风险有一定的影响,两者联合作用对肺癌发病风险的影响尚无确切定论。本研究旨在探讨CYP1A1和GSTM1基因多态性及其联合效应与肺癌危险性的关系。方法在PubMed数据库、EMBASE数据库、中国生物医学文献数据库(china biology medicine,CBM)和中国知识基础设施工程数据库(china national knowledge infrastructure,CNKI)中查询文献,时间范围从各数据库建库至2011年3月。使用STATA10软件进行meta分析统计,对于每篇入选的文献均计算肺癌发生危险性调整混杂因素后优势比(odd ratio,OR)及其95%置信区间(confidence interval,CI)。结果 15篇文献最终被纳入本次研究。Meta分析显示GSTM1基因缺失时CYP1A1基因IIe/Val位点为纯合突变型时肺癌发病风险明显高于杂合型与纯合突变型联合,总体OR分别...     

58. Susceptibility to lung cancer is associated with genetic polymorphisms of CYP1A1、GSTM1

Objective: To investigate the association of lung cancer susceptibility with genetic Polymorphism of CYP1A1 and GSTM1. Methods: The study was conducted on 65 lung cancer cases and 60 no-cancer controls. The genetic polymorphism both CYP1A1 and GSTM1 were performed in cancer tissues of all patients and peripheral blood leukocytes of no-cancer controls. First by RFLP-PCR, then after incubating with restriction enzyme Ncol and Hinfl. Results: ①There were no significant differences in the frequency distribution of CYP1A1 polymorphisms between lung cancer patients and controls, but the frequency of CYP1A1(Val/Val) was significant higher than that controls (P<0.05). ②If OR for CYP1A1 (Ile/Ile) genotype was 1.0, the OR of CYP1A1 (Ile/VaL)、CYP1A1 (Val/Val) was 1.68 (95%CI, 0.79～3.59) and 3.2 (95%CI, 1.06～10.26), respectively. ③The significant difference were observed that GSTM1(-) became markedly expressed (63.1%, 41/65) in elung cancer patients than in the corresponding controls (45%, 27/60) (P<0.05), OR was 2.09 (95%CI, 1.02～4.26); ④When analysis combined CYP1A1 and GSTM1 genotype, we found that individual who take along CYP1A1 (Ile/Ile)/GSTM1 (-) or CYP1A1 (Ile/Val+Val/Val)/GSTM1 (+) genotype had higher odds ratio than CYP1A1 (Ile/Ile)/GSTM1 (+) genotype, the OR was 3.82 (95%CI, 1.27～11.45) and 3.5 (95%CI 1.18～10.41), respectively, but the CYP1A1 (Val/Val) / GSTM1 (-) genotype was the hightest odds ratio, the OR was 10.5 (95%CI, 1.70～64.73). ⑤We observed that the individual who carry CYP1A1(Val/Val) genotype can increased risk of squamous cell carcinoma of lung (P<0.05), OR was 2.75 (95%CI, 1.24～6.17), there was no significant associated of pathologic with GSTM1 genotype. ⑥Stratified analysis suggested an interaction between cigarettes smoking and CYP1A1 (Ile/Val+Val/Val)、GSTM1 (-) genotype. Conclusion: ①The individuals who carried genotype of CYP1A1 (Val/Val) and GSTM1 (-) were susceptible to lung cancer. ②the individuals who carried CYP1A1 (Ile/Ile) /GSTM1 (-) or CYP1A1 (Ile/Val+Val/Val) /GSTM1 (+) genotype with higher risk of developing lung cancer than that CYP1A1 (Ile/Ile)/GSTM1 (+) genotype. ③There were interaction between smoking and CYP1A1 (Ile/Val+Val/Val)、GSTM1 (-)     

CYP2C9、GSTM1基因多态性与肺癌易感性的关系

目的探讨细胞色素P4502C9(CYP2C9)基因、谷胱甘肽硫转移酶M1(GST M1)基因多态性与肺癌易感性的关系。方法用PCR-RFLP法分析56例肺癌(简称肺癌组)和42例健康对照组NsiⅠ识别的CYP2C9基因型;用PCR法分析其GST M1基因型。结果突变型CYP2C9*3型基因发生频率在肺癌组中为8.93%,高于对照组的4.76%,其差异无显著性(P>0.05)。肺癌组GST M1基因缺失型〔GST M1(-)〕发生率为71.43%,高于对照组的45.24%,其差异有显著性(P<0.01);GST M1(-)型与肺癌呈高度联系强度,OR=3.09(95%CI=1.32~6.94);GST(-)基因型在吸烟的肺癌组(81.08%)与对照组(52.18%)之间的频率差异有显著性(P<0.05)。结论突变型CYP2C9*3型基因与肺癌无显著性联系;GST M1(-)基因型是肺癌发生的遗传易患性因素;吸烟可显著提高GST(-)基因型个体患肺癌的危险性。     

广州地区汉族人群肺癌易感性标记物CYP1A1、CYP2E1和GSTM1与肺癌关系的病例对照研究

[目的]探讨广州地区汉族人群谷胱苷肽硫转移酶（GSTM1）、细胞色素P4501A1（CYP1A1）和细胞色素P4502E1（CYP2E1）基因多态性与肺癌易感性的关系。[方法]选取中山大学附属第一医院、广州市肿瘤医院、广州市红十字会医院等医院的广州籍新发肺癌病人91例及同期上述各医院的同性别非肺部疾患病人91例作对照，采用聚合酶链式反应（PCR）和限制性片段长度多态性（RFLP）技术检测CYP1A1、CYP2E1和GSTM1的基因多态性。[结果]与野生型的CYP1A1相比，突变型肺癌OR为1．51（0．76～3．011。CYP2E1C2C2基因型与C1C1基因型比较，其OR为5．48（1．21～25．23）．GSTM1基因缺失型的OR值为1．26（0．69～2.30）．而三者联合作用时．则可增加患肺癌的危险，其OR值为3．97（0．94-16．791，但无统计学意义（P〉0．05）。[结论]CYP1A1、CYP2E1和GSTM1的某些基因型增加了患肺癌的危险性，但尚未达到统计学的显著性水平，说明它们均不是肺癌个体易感性的主效基因．而是次效基因。     

Genetic Susceptibility to Oral Cancer due to Combined Effects of GSTT1, GSTM1 and CYP1A1 Gene Variants in Tobacco Addicted Patients of Pashtun Ethnicity of Khyber Pakhtunkhwa Province of Pakistan

Associations of GSTT1, GSTM1 and CYP1A1 gene variants with risk of developing oral cancer were evaluatedin this study. A case-control study was conducted in Pashtun population of Khyber Pakhtunkhwa province ofPakistan in which 200 hospital based oral cancer cases and 151 population based healthy controls exposed tosimilar environmental conditions were included. Sociodemographic data were obtained and blood samples werecollected with informed consent for analysis. GSTM1 and GSTT1 were analysed through conventional PCRmethod while specific RT-PCR method was used to detect CYP1A1 polymorphisms. Results were analyzed forconditional logistic regression model by SPSS version 20. The study shows that patients with either GSTM1 orGSTT1 null genotypes have significantly higher risk of oral cancer (adjusted odds (OR): (3.019 (1.861-4.898)and 3.011(1.865-4.862), respectively), which further increased when either one or both null genes were present incombination (adjusted odds (OR): (3.627 (1.981-6.642 and 9.261 (4.495-19.079), respectively). CYP1A1 rs4646903gene variants individually showed weak association OR: 1.121 (0.717-1.752); however, in the presence of GSTM1and/or GSTT1 null genotypes further increasing the association (adjusted odds (ORs): 4.576 (2.038-10.273), 5.593(2.530-12.362) and 16.10 (3.854-67.260 for GSTM/GSTT null and CYP1A1 wild type, GSTM/GSTT either nulland CYP1A1 variant alleles, and all 3 gene polymorphisms combinations, respectively). Our findings suggestthat presence of GSTM1 and/or GSTT1 null genotypes along with variant alleles of CYP1A1 may be the riskalleles for oral cancer susceptibility in Pashtun population.     

CYP1A1和GSTM1与胃癌、萎缩性胃炎和胃溃疡等易感性的研究

目的：探讨细胞色素氧化酶基因（CYP1A1）和谷胱甘肽转硫酶基因（GSTM1）多态性与胃癌和萎缩性胃炎等胃部疾病易感性的关系。方法：对病理诊断的胃癌（GC）102例，慢性萎缩性胃炎（CAG）110例，胃溃疡（GU）62例，慢性浅表性胃炎（CSG）103例，十二指肠溃疡（DU）62例，正常人62例的CYP1A1和GSTM1基因型采用序列特异性引物的聚合酶链反应（PCR－SSP）方法进行测定，关联度分析采用病例对照研究方法，结果：非条件Logistic回归在调整年龄，性别，文化程度和职业4个因素后，GG，CAG和GU与CYP1A1 G／G，GSTM10／0基因型，幽门螺杆菌（Hp)感染及吸烟有关联，同时基因型间存在明显的交互作用，没有发现DU和CSG与CYP1A1和GSTM1基因型有关联，但DU与幽门螺杆菌（Hp)感染有关联，而且Hp感染，吸烟与CYP1A1 G／G型之间存在交作用。结论：CYP1A1 G／G，GSTM10／0基因型与GC，CAG，GU的易感性有磁联，两个基因型之间及它们各自与Hp感染与吸烟之间有交互作用。     

Colorectal cancer and genetic polymorphisms of CYP1A1, GSTM1 and GSTT1: a case-control study in the Grampian region of Scotland

Cytochrome P-450 CYP1A1 is involved in the metabolism of polycyclic aromatic hydrocarbons (PAHs) that are derived from meat intake and tobacco smoking. Expression of the CYP1A1 gene is induced by compounds present in cruciferous vegetables. The glutathione S-transferases play a central role in the detoxification of carcinogens, including PAHs. We investigated the association between colorectal cancer and three variants (CYP1A1*2A, CYP1A1*2C, CYP1A1*4) of the CYP1A1 gene, and homozygosity for the null deletion of the GSTM1 and GSTT1 genes, and the joint effects of these genotypes and smoking, meat intake and intake of green leafy vegetables in a population-based study of 264 cases and 408 controls in Northeast Scotland. There was an inverse association with the CYP1A1*4 (m4) variant (OR 0.3, 95% CI 0.13-0.70). The OR for the CYP1A1*2C (m2) variant was 1.3 (95% CI 0.59-2.91), which is similar to a combined estimate for previous studies (OR 1.2, 95% CI 0.95-1.41). We observed no association with the CYP1A1*2A (m1) variant, or the GSTM1 and GSTT1 polymorphisms. Significant interactions between all 3 CYP1A1 variants and meat intake, and between the m1 and m2 variants and intake of green leafy vegetables, were observed. There was no evidence of interaction between CYP1A1 and smoking, and no evidence of interaction between the GSTM1 or GSTT1 polymorphisms and smoking, meat intake, green leafy vegetable intake, CYP1A1 variants or each other.     

CYP1A1 (Ile462Val), CYP1B1 (Ala119Ser and Val432Leu), GSTM1 (null), and GSTT1 (null) Polymorphisms and Bladder Cancer Risk in a Turkish Population

We aimed to investigate bladder cancer risk with reference to polymorphic variants of cytochrome p450 (CYP)1A1, CYP1B1, glutathione S-transferase (GST) M1, and GSTT1 genes in a case control study. Polymorphismswere examined in 114 bladder cancer patients and 114 age and sex-matched cancer-free subjects. Genotypes weredetermined using allele specific PCR for CYP1A1 and CYP1B1 genes, and by multiplex PCR and melting curveanalysis for GSTM1 and GSTT1 genes. Our results revealed a statistically significant increased bladder cancerrisk for GSTT1 null genotype carriers with an odds ratio of 3.06 (95% confidence interval=1.39-6.74, p=0.006).Differences of CYP1A1, CYP1B1 and GSTM1 genotype frequencies were not statistically significant betweenpatients and controls. However, the specific combination of GSTM1 null, GSTT1 null, and CYP1B1 codon 119risk allele carriers and specific combination of GSTM1 present, GSTT1 null, and CYP1B1 432 risk allele carriersexhibited increased cancer risk in the combined analysis. We did not observe any association between differentgenotype groups and prognostic tumor characteristics of bladder cancer. Our results indicate that inheritedabsence of GSTT1 gene may be associated with bladder cancer susceptibility, and specific combinations ofGSTM1, GSTT1 and CYP1B1 gene polymorphisms may modify bladder cancer risk in the Turkish population,without any association being observed for CYP1A1 gene polymorphism and bladder cancer risk.     

CYP1A1, GSTM1, GSTT1 and TP53 Polymorphisms and Risk of Gallbladder Cancer in Bolivians

The Plurinational State of Bolivia (Bolivia) has a high incidence rate of gallbladder cancer (GBC). However, the genetic and environmental risk factors for GBC development are not well understood. We aimed to assess whether or not cytochrome P450 (CYP1A1), glutathione S-transferase mu 1 (GSTM1), theta 1 (GSTT1) and tumor suppressor protein p53 (TP53) genetic polymorphisms modulate GBC susceptibility in Bolivians. This case-control study covered 32 patients with GBC and 86 healthy subjects. GBC was diagnosed on the basis of histological analysis of tissues at the Instituto de Gastroenterologia Boliviano Japones (IGBJ); the healthy subjects were members of the staff at the IGBJ. Distributions of the CYP1A1 rs1048943 and TP53 rs1042522 polymorphisms were assayed using PCR-restriction fragment length polymorphism assay. GSTM1 and GSTT1 deletion polymorphisms were detected by a multiplex PCR assay. The frequency of the GSTM1 null genotype was significantly higher in GBC patients than in the healthy subjects (odds ratio [OR], 2.35; 95% confidence interval [CI], 1.03-5.37; age-adjusted OR, 3.53; 95% CI, 1.29-9.66; age- and sex-adjusted OR, 3.40; 95% CI, 1.24-9.34). No significant differences were observed in the frequencies of CYP1A1, GSTT1, or TP53 polymorphisms between the two groups. The GSTM1 null genotype was associated with increased GBC risk in Bolivians. Additional studies with larger control and case populations are warranted to confirm the association between the GSTM1 deletion polymorphism and GBC risk suggested in the present study.     

CYPlA1、GSTMl基因多态性及环境因素与新疆哈萨克族食管癌家族聚集性的相关性研究

目的探讨CYPlAl、GSTMI基因多态性及环境因素与新疆哈萨克族食管癌家族聚集性发生的关系。方法通过检测86例新疆哈萨克族食管癌家族及82例对照家族外周血CYPlAl、GSTMl基因的多态性,并通过对环境危险因素进行现场问卷调查,探讨CYPlAl、GSTMI基因和环境因素在新疆哈萨克族食管癌家族聚集性中所起的作用。结果在新疆哈萨克族食管癌家族与对照家族之间cⅥ,1A1MspI、GSTMl不同基因型的分布频率差异均有统计学意义（P〈0．05）,MspI突变型和GSTMl缺失型之间交互作用显著增加食管癌家族集聚性,OR值为3．193（95％CI：1．645—3．376）,Logistic多因素分析显示新疆哈萨克族食管癌家族聚集性的发生与饮水情况、摄人较多新鲜蔬菜水果、CYPlAl基因MspI多态性等3个因素具有相关性,其中摄入较多新鲜蔬菜水果（OR=0。278,95％CI：0．137—0．551）是新疆哈萨克族食管癌家族聚集性的保护因素,饮用河水（OR=3．468,95％CI：1．562—6．551）、CYPlAI基因Mspl多态性的突变表型（OR=2．732,95％CI：1．741—3．886）是新疆哈萨克族食管癌家族聚集性的危险因素。结论CYPlAl、GSTMl基因多态性在新疆哈萨克族食管癌家族聚集性中起了一定的作用,饮用河水、CYPlAl基因Mspl突变表型是新疆哈萨克族食管癌家族聚集性的危险因素,可能与这些家族成员食管癌高发有关。     

淋巴瘤患者多环芳烃-DNA加合物及代谢酶基因细胞色素氧化酶P4501A1与谷胱苷肽硫转移酶M1基因多态性的研究

目的 探讨多环芳烃（PAH）-DNA加合物和代谢酶基因细胞色素氧化酶P4501A1（CYP1A1）与谷胱苷肽硫转移酶M1（GSTM1）基因多态性与淋巴瘤发病的关系.方法 通过竞争性酶联免疫吸附法测定54例淋巴瘤患者及34例对照组骨髓液中PAH-DNA加合物含量,采用限制性片段长度多态性PCR法（PCR-RFLP）测定上述标本CYP1A1、GSTM1基因多态性.结果 淋巴瘤患者骨髓液中PAH-DNA加合物含量为（2498±1 250） pg/ml,较对照组的（1 882±797） pg/ml增加,差异有统计学意义（t=0.006,P＜0.05）;淋巴瘤患者GSTM1基因型缺失占85.2％,对照组占58.8％,差异有统计学意义（x2=7.73,P＜0.05）,GSTM1基因型缺失者患淋巴瘤风险是GSTM1表达者的4.03倍（95％ CI1.51～10.76,P＜ 0.05）;CYP1A1变异型是野生型患淋巴瘤风险的1.36倍（95％CI 0.56～ 3.31,P＞ 0.05）,GSTM1缺失者PAH-DNA加合物水平≥2 200 pg/ml时患淋巴瘤的危险性增加（OR=9.53,95％CI 2.397～ 37.990,P＜ 0.05）.结论 PAH-DNA加合物可能参与淋巴瘤的发病,GSTM1缺失与淋巴瘤发生有关,并且增加患淋巴瘤的风险.