中国汉族人群DNA聚合酶ε基因POLE1单核苷酸多态性与肺癌易感性的关系

目的：探讨人类DNA聚合酶ε基因POLE1单核苷酸多态性（SNP）与肺癌易感性间的关系。方法：采用病例对照研究方法,选择经组织学确诊的肺癌患者462例,以及相同地区,性别年龄频数匹配的对照466例,针对经筛选的5个SNP进行基因型检测,通过统计分析研究基因频率与肺癌风险的关系,并探讨吸烟在其中的影响。结果：病例组rs5744738基因频率分布高于对照组（P〈0.05）。A/A纯合变异携带人群的患肺癌风险显著降低（校正OR=0.47,95%CI：0.25～0.91）。在分层分析中,60岁以上人群患肺癌的风险显著下降（校正OR=0.28,95%CI：0.09～0.91）,无患肿瘤家族史人群下降到0.42倍（校正OR=0.42,95%CI：0.19～0.90）。随着吸烟量的增加,G/G或G/A基因型人群肺癌风险显著升高。rs5744962变异位点（T→C）可提高非吸烟人群的患肺癌风险至1.75倍（95%CI：1.02～3.00）。结论：选取的5个人类POLE1基因SNP的多态性可能与中国汉族人群肺癌遗传易感性有关,在携带rs5744738及与之紧密连锁的rs4883545、rs5744873突变纯合基因的人群,患肺癌的风险显著降低,而携带rs5744962、rs5745047突变基因位点的非吸烟人群患肺癌的风险升高。     

叶酸还原载体基因RFC1 G80A多态性与胃癌易感性关系的分子流行病学研究

目的：探讨中国华东汉族人群叶酸还原载体（reduced folate carrier，RFC1）基因G80A多态与胃癌易感性的关系。方法：本组为病例对照研究，经组织学确诊的宜兴高发区胃腺癌病例261例，并选择与病例年龄和性别频数匹配的人群对照295例，以PCR内切酶片段长度多态性方法，比较不同基因型与胃癌风险的关系，并探讨吸烟、饮酒等因素在其中的影响。结果：与携带80GG基因型者比较，携带80AA基因型者胃癌风险增加1．79倍（校正OR=2．79，95％CI：1．77～4．39）；以携带80GG和GA基因型者为参照（隐性模型），80AA变异基因型者胃癌风险增加1．59倍（校正OR=2．59，95％CI：1．77～3．80），且这一显著的相关性在60岁以上（校正OR=2．96，95％CI：1．63～5．37）、女性（校正OR=8．28，95％CI：2．95～23．26）、非吸烟者（校正OR=3．68，95％CI：1．94～6．98）和非饮酒者（校正OR=3．08，95％CI：1．76～5．41）中更为显著。结论：RFC1G80A多态可能与中国汉族人群胃癌遗传易感性有关，值得进一步进行功能学探讨及大样本人群验证。     

RASSF1基因单核苷酸多态性与食管癌的发病风险

目的:探讨RASSF1基因第三外显子G133T和第六外显子A315G单核苷酸多态性(SNP)与陕西地区汉族人群食管鳞状细胞癌(ESCC)易感性的关系.方法:采用基于人群的病例对照研究,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测120例ESCC和122例健康对照个体RASSF1基因多态位点的基因型频率分布,比较不同基因型与ESCC发生风险的关系.结果:RASSF1基因G133T多态的T等位基因频率和A315G多态的G等基因频率在ESCC患者组分别为17.5%和23.8%,显著高于健康对照组的6.1%和11.9%.根据个体吸烟状况进行分层分析发现,携带G/T基因型或T等位基因(G/T+T/T基因型)和携带A/G基因型或G等位基因(A/G+G/G基因型)可显著增加吸烟个体ESCC的发病风险,经性别、年龄、GIC家族史校正后的OR值分别为11.7和5.02(95%CI=3.95-34.9和2.09-12.06).GIC家族史分层分析发现,携带G/T基因型或T等位基因(G/T+T/T基因型)和A/G基因型可显著增加GIC家族史阳性个体和GIC家族史阴性个体ESCC的发病风险, 经性别、年龄、吸烟状况校正后的OR值为5.08和3.51(95%CI=1.85-13.92和1.69-7.21).结论:携带RASSF1基因G133T多态的T等位基因(G/T+T/T基因型)可能显著增加陕西地区人群ESCC的发病风险.携带RASSF1基因A315G多态的G等位基因(A/G+G/G基因型)可能显著增加陕西地区人群ESCC的发病风险.     

RASSF1基因SNP与陕西地区结直肠癌发病风险关系的研究

目的:探讨RASSF1基因第三外显子G133T和第六外显子A315G单核苷酸多态性(SNP)与陕西地区汉族人群结直肠癌(CRC)易感性的关系。方法:采用基于人群的病例对照研究,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测61例CRC和122例健康对照个体RASSF1基因多态位点的基因型频率分布,比较不同基因型与CRC发生风险的关系。结果:RASSF1基因G133T多态的T等位基因频率在CRC患者组为24.6%,显著高于健康对照组的6.1%(P=0.00)。与G/G基因型相比,携带G/T基因型的个体CRC的发病风险显著增加,经性别、年龄、吸烟状况、GIC家族史校正后的OR值为2.33(95%CI=1.05-5.15)。RASSF1基因A315G多态的G等位基因频率在CRC患者组为25.4%,显著高于健康对照组的11.9%(P=0.00)。根据个体吸烟状况进行分层分析发现,与A/A基因型相比,携带A/G基因型和G等位基因(A/G+G/G基因型)可显著增加吸烟个体CRC的发病风险,经性别、年龄、GIC家族史校正后的OR值为4.5(95%CI=1.65-12.28)。根据GIC家族史进行分层分析发现,与A/A基因型相比,携带A/G基因型或G等位基因(A/G+G/G基因型)可显著增加GIC家族史阳性个体CRC的发病风险,经性别、年龄、吸烟状况校正后的OR值为3.78(95%CI=1.39-10.19)。结论:携带RASSF1基因G133T多态的T等位基因(G/T+T/T基因型)可能显著增加陕西地区人群CRC的发病风险。携带RASSF1基因A315G多态的G等位基因(A/G+G/G基因型)可能显著增加陕西地区人群CRC的发病风险。分层分析发现,G等位基因(A/G+G/G基因型)可能显著增加吸烟个体和GIC家族史阳性个体CRC的发病风险。     

髓过氧化物酶基因多态性与肺癌遗传易感性的研究

背景与目的:髓过氧化物酶(myeloperoxidase,MPO)基因启动子区域-463bp处存在G/A多态位点,国外研究表明此位点与肺癌遗传易感性有关,但中国人MPO基因型与肺癌易感性关系尚未见报道,本研究拟对此问题作一探讨。方法:采用病例-对照分子流行病学方法,以PCR-RFLP技术检测98例原发性肺癌和112名健康对照MPO基因型,通过比较不同基因型者的比值比(oddsratio,OR)及其95%可信区间(confidenceinterval,CI)分析基因多态性与中国人肺癌易感性的关系。结果:正常人群G/G、G/A、A/A基因型频率分别为47.3%、42.9%和9.8%,肺癌病例组分别为63.3%、33.7%和3.0%,杂合子G/A在两组人群中分布无显著性差异(P>0.05),但病例组A/A基因型频率显著低于对照组(P<0.025)。携带至少一个等位基因A者患肺癌的风险是基因型为G/G者的52.0%(95%CI0.29～0.93)。在吸烟人群中,等位基因A对肺癌易感性的保护作用有显著性意义(OR=0.41,P<0.025),而在非吸烟人群,这种保护作用无显著性意义(P>0.25)。结论:本研究人群MPO基因多态与肺癌遗传易感性相关,等位基因A对吸烟人群的肺癌易感性有保护作用。     

乙酰胆碱受体亚单位α 5基因启动子区-10位T/A多态和肺癌易感性的关联分析

目的:研究中国汉族人群烟碱型乙酰胆碱受体亚单位α5(nicotine acetylcholine receptor subunits alpha 5,CHRNA5)基因启动子区-10位T/A多态(rs503464)与肺癌遗传易感性之间的关系.方法:采用SNaPshot技术对505例经组织病理学确诊的肺癌患者和496例健康人的CHRNA5基因启动子区-10位T/A多态进行检测.结果: 与携带纯合基因型TT/AA的个体相比较,杂合基因型TA携带者患肺癌的风险明显降低[校正后优势比(odds ratio,OR)= 0.624,P<0.001].等位基因频率分布在病例组和健康对照组间差异无统计学意义(P = 0.97).病理分型分析结果显示,杂合基因型TA携带者患肺腺癌和肺鳞癌的发病风险明显低于纯合基因型TT/AA携带者(OR值分别为0.597和0.542,均P=0.002).分层分析后显示,这种保护作用在年龄大于60岁及无肿瘤家族史的人群中更显著(P<0.001).结论:CHRNA5基因启动子区-10位杂合基因型TA可能与中国汉族人群罹患肺癌的遗传风险降低有关联.     

DNA修复基因XPD G312A多态性与肺癌易感性关系的meta分析

背景与目的已有的研究结果显示DNA修复基因XPD G312A多态位点与肺癌发生存在相关性,但研究结果尚未有一致性结论。本研究旨在通过meta分析的方法,综合评价DNA修复基因XPD G312A多态位点与肺癌发病风险的相关性。方法检索PUBMED、EMBASE、清华CNKI全文数据库、万方全文数据库中XPD基因G312A多态位点与肺癌易感性关系的病例对照研究。对符合纳入标准的研究用meta分析的方法进行数据合并,采用RevMan5.0和STATA11.0评价研究间异质性,计算合并OR值及95%CI。并进行敏感性分析和发表偏倚检验。结果共纳入18项研究,累计病例6554例,对照8322例。总体人群中A等位基因及AA基因型携带者肺癌风险明显升高(A vs G:OR=1.06,95%CI:1.00-1.12;AA vs AG+GG:OR=1.20,95%CI:1.06-1.36;AA vs GG:OR=1.19,95%CI:1.04-1.36)。亚洲人群中,AA基因型携带者肺癌风险明显升高(AA vs AG+GG:OR=7.15,95%CI:1.90-26.94;AA vs GG:OR=7.20,95%CI:1.91-27.15)。高加索人群中,AA基因型携带者肺癌风险升高(AA vs AG+GG:OR=1.15,95%CI:1.01-1.31)。结论XPD312A等位基因为肺癌发生的风险等位基因,AA基因型携带者肺癌风险升高,尤其在亚洲人群这种影响更为明显。     

CYP1A1多态性与肺癌遗传易感性的关系

目的探讨代谢酶基因CYP1A1基因多态性与中国汉族人群肺癌遗传易感性之间的相关性。方法应用AS-PCR技术检测150例中国四川汉族肺癌和152例中国四川汉族健康人的CYP1A1基因Exon7多态性分布频率,并分析了Exon7多态性与中国四川汉族人群肺癌遗传易感性之间的相关性。结果CYP1A1Exon73种多态基因型分布频率在两组间比较差异无统计学意义,χ2=0.634,P=0.728。携带突变Val基因型的个体较携带Ile/Ile基因型的个体患肺癌的危险性增加,OR=1.139,95%CI为0.635~2.042,P=0.662。携带突变Val基因型的个体较携带Ile/Ile基因型的个体患肺鳞癌的风险显著增加,OR=3.510,95%CI=1.326~9.293,P=0.011。结论Val突变等位基因可能是中国四川汉族人群的肺癌易感基因。CYP1A1基因Exon7多态性在肺鳞癌发生中起重要作用。     

DNA修复基因XPD单核苷酸多态与胆道癌遗传易感性

目的:研究核苷酸切除修复基因XPDAsp312Asn位点以及Lys751Gln位点多态与上海市区人群胆道癌风险的关系。方法:采用全人群病例-对照研究的方法运用PCR-RFLP对443名胆道癌患者和448名正常对照进行基因型分析。比较各基因型在病例与对照中分布频率的差异,并探讨基因、环境因素在胆道癌发生过程中的作用。结果:与携带XPD 751Lys/Lys基因型者比较,携带Gln/Gln基因型者罹患胆道癌的风险显著增加(校正OR=6.32;95%CI=1.16~34.53)。按解剖部位分析显示,风险增高只限于壶腹部癌(校正的OR=13.17;95%CI=1.71~101.38)。携带312Asn/Asn基因型者罹患壶腹部癌的风险显著高于携带Asp/Asp基因型者(校正后OR=20.09;95%CI=1.13~357.99)。在不伴有胆石症人群中,751Gln/Gln基因型携带者罹患胆道癌风险增加(校正后OR=5.92;95%CI=1.05~33.36),提示在不伴有胆石症人群中,遗传因素可能是发生胆道癌的影响因素。而在饮酒人群中携带751Lys/Gln或Gln/Gln基因型者较携带Lys/Lys基因型者患胆道癌风险增加约3倍。结论:XPD 312Asn等位基因以及751Gln等位基因可能是中国上海地区人群胆道癌尤其是壶腹部癌风险的遗传易感因素。     

MKK4基因启动子区遗传变异与中国南方人群肺癌易感性的相关性研究

目的:探讨丝裂原活化蛋白激酶激酶4(mitogen-activated protein kinase kinase4,MKK4)基因启动子区单核苷酸多态性与中国南方人群肺癌发病风险的关系。方法:采用病例对照研究方法,收集800例肺癌病例和900例正常对照,采用TaqMan技术检测MKK4基因启动子区多态位点rs3826392(-1304T>G)的基因型。应用SAS9.3软件分析其与肺癌易感性的相关性。结果:MKK4基因启动子区-1304T>G基因型在对照组中的频率分布符合Hardy-Weinberg平衡(P=0.149),其在病例组和对照组的分布差异有统计学意义(P=0.001);与携带TT基因型个体相比,携带TG杂合子的个体患肺癌的风险下降25%[校正比值比(oddratio,OR)=0.75,95%可信区间(confidence interval,CI)=0.58～0.97],而携带GG变异纯合子者患肺癌的风险下降45%(校正OR=0.55,95%CI=0.33～0.94);随着变异型等位基因G的个数增加,肺癌发病风险逐步降低(P趋势<0.001)。结论:MKK4基因启动子区-1304T>G基因遗传变异可能降低肺癌发病风险。     

XPA, haplotypes, and risk of basal and squamous cell carcinoma

Nucleotide excision repair (NER) is instrumental in removing DNA lesions caused by ultraviolet (UV) radiation, the dominant risk factor for keratinocyte carcinoma, including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). We evaluated whether BCC or SCC risk was influenced by the A23G single nucleotide polymorphism (SNP) in Xeroderma pigmentosum group A (XPA), which codes for an essential protein in NER. We also investigated whether haplotypes of XPA, determined by seven haplotype-tagging SNPs, better define susceptibility to keratinocyte carcinoma. Incident cases of BCC and SCC from New Hampshire were identified through dermatologists and pathology laboratories. Population-based controls were frequency-matched to cases by gender and age. Cases of BCC (886) and of SCC (682) were compared with controls (796). Models controlled for age, gender, pigmentation factors and severe sunburns and were restricted to Caucasians. Using GG as the reference, the A allele was less frequent among cases of BCC (OR(AG) = 0.82, 95% CI (0.66, 1.01); OR(AA)= 0.74, 95% CI (0.53, 1.03); trend test P = 0.03) and SCC (OR(AG) = 0.85, 95% CI (0.67, 1.07); OR(AA) = 0.74, 95% CI (0.52, 1.05); trend test P = 0.05) than controls. Risk from > or =3 severe sunburns was elevated for those with the GG genotype only, and this interaction was nearly significant for BCC (P = 0.07). XPA genotype also modified a relationship between SCC and the amount of pigmentation (P = 0.02). Using a haplotype analysis identifying seven common XPA haplotypes indicated that the A23G polymorphism alone captured the differences in susceptibility to keratinocyte carcinoma. The common G allele of the A23G polymorphism was associated with an increased risk of BCC and SCC and this polymorphism appeared to be the determining polymorphism in XPA that alters cancer susceptibility.     

Associations of ERCC4 rs1800067 Polymorphism with Cancer Risk: an Updated Meta-analysis

Background: Results from previous studies concerning the association of ERCC4 rs1800067 polymorphismwith risk of cancer were inconsistent. To explore the exact relation with susceptibility, we conducted the presentmeta-analysis. Materials and Methods: Literature of electronic databases including PubMed, Web of Science,EMBASE, Wanfang and Chinese National Knowledge Infrastructure (CNKI) were systematically searched. ORsand their 95%CIs were used to assess the strength of associations between ERCC4 polymorphism and cancerrisk. Results: There was no significant association between ERCC4 rs1800067 AA or AG genotypes and overallrisk of cancer (AA vs. GG: OR=0.998, 95%CI=0.670-1.486, P=0.992; AG vs. GG: OR=0.970, 95%CI=0.888-1.061, P=0.508). A dominant genetic model also did not demonstrate significant association of (AA+AG)genotype carriers with altered risk of overall cancer (OR=0.985, 95%CI=0.909-1.068, P=0.719). In addition,no significant association was observed between A allele of ERCC4 rs1800067 A/G polymorphism and alteredcancer risk compared with G allele (OR=0.952, 95%CI=0.851-1.063, P=0.381). Subgroup analysis suggestedthat AA genotype carriers were significantly associated with decreased risk of glioma compared with wild-typeGG genotype individuals (OR=0.523, 95%CI=0.275-0.993, P=0.048). For subgroup of lung cancer, A allele ofERCC4 rs1800067 A/G polymorphism was significantly associated with decreased risk of lung cancer comparedwith G allele (OR=0.806, 95%CI=0.697-0.931, P=0.003). Conclusions: This meta-analysis indicated that ERCC4rs1800067 A/G polymorphism might not be associated with risk of overall cancer. However, individuals with theAA genotype were associated with significantly reduced risk of glioma compared with wild-type GG genotype;The A allele was associated with significantly reduced risk of lung cancer compared with G allele. Future largescalestudies performed in multiple populations are warranted to confirm our results.     

白介素10-1082G/A位点单核苷酸多态性与中国北方人群胃癌发病风险的病例对照研究

背景与目的:个体遗传易感性对胃癌的发生发展具有重要作用,其中免疫抑制因子白细胞介素10(interleukin-10,IL-10)基因-1082G/A位点单核苷酸多态性(single anucleotide polymorphism,SNP)引起研究者重视。本研究分析IL-10-1082G/A SNP在中国北方胃癌高发区和低发区人群中的分布,探讨IL-10-1082G/A SNP与胃癌发病风险的关系。方法:1516例研究对象来自胃癌高发区辽宁庄河(983例)及低发区沈阳(533例),采用聚合酶链反应-限制性片段长度多态(polymerase chain reaction-restriction fragment lengthpolymorphism,PCR-RFLP)方法检测该人群中IL-10-1082G/A位点单核苷酸多态性;采用酶联免疫吸附实验(enzyme-linked immunosorbent assay,ELISA)检测血清幽门螺杆菌(Helicobacter pylori,H.pylori)IgG。采用病理组织学诊断进行疾病分组,按性别和年龄配对,选取基本正常、浅表性胃炎、胃糜烂溃疡、萎缩性胃炎和胃癌组织各111例,用于IL-10-1082G/A SNP与胃癌发病风险的分析。结果:中国北方人群IL-10-1082G/A基因位点AA、AG、GG三种基因型分布频率分别为88.5%、10.9%、0.6%。IL-10-1082AG GG基因型在胃癌组、非胃癌组及正常对照组分布频率分别为19.8%、9.7%和6.3%,IL-10-1082AG GG基因型在胃癌高、低发区人群中的分布的地区及性别差异无统计学意义(P>0.05),而胃癌组高于非胃癌组(P=0.003)及正常对照组(P=0.003),其差异均有统计学意义。以IL-10-1082AA基因型并H.pylori IgG阴性的正常组为对照,IL-10-1082AG GG基因型并H.pylori IgG抗体阴性个体、IL-10-1082AA基因型或AG GG基因型并H.pylori IgG抗体阳性个体胃癌患病风险均提高,OR(95%CI)分别为3.3(1.3～8.6)、4.3(2.0～9.5)、2.5(2.1～3.1),但三组两两进行比较其差异均无统计学意义(P>0.05)。结论:携带IL-10-1082AG GG基因型个体胃癌的发病风险提高,IL-10-1082G/A SNP和H.pylori感染在胃癌发生发展过程中无交互作用。     

Rs895819 within miR-27a Might be Involved in Development of Non Small Cell Lung Cancer in the Chinese Han Population

MicroRNA-27a (miR-27a) is deemed to be an oncogene that plays an important role in development ofvarious cancers, and single nucleotide polymorphism (SNP) of miR-27a can influence the maturation oraberrant expression of hsa-miR27a, resulting in increased risk of cancer and poor prognosis for non-small celllung cancer (NSCLC). This study aimed to assess the effects of rs895819 within miR-27a on susceptibility andprognosis of NSCLC patients in 560 clinical confirmed cases and 568 healthy check-up individuals. Adjustedodds/hazard ratios (ORs/HRs) and 95% confidential intervals (CIs) were calculated to evaluate the associationbetween rs895819 and the risk and prognosis of NSCLC. The results showed that allele A and genotype GG ofrs895819 were significantly associated with an increased risk of NSCLC (38.9% vs 30.8%, adjusted OR=1.26,95%CI=1.23-1.29 for allele G vs A; 18.1% vs 11.7%, adjusted OR=1.67, 95%CI=1.59-1.75 for genotype GG vs AA).Moreover, positive associations were also observed in dominant and recessive models (53.7% vs 49.9%, adjustedOR=1.17, 95%CI=1.13-1.20 for GG/AG vs AA; 18.1% vs 11.7%, adjusted=1.65, 95%CI=1.58-1.73). However,no significant association was found between rs895819 and the prognosis of NSCLC in genotype, dominant andrecessive models. These results suggested that miR-27a might be involved in NSCLC carcinogenesis, but not inprogression of NSCLC. The allele G, genotype GG and allele G carrier (GG/AG vs AA) of rs895819 might begenetic susceptible factors for NSCLC. Further multi-central, large sample size and well-designed prospectivestudies as well as functional studies are warranted to verify our findings.     

EGF61基因多态性与胃癌易感性Meta分析

目的：探讨表皮细胞因子（epidermalgrowthfactor,EGF）基因61A／G多态性与胃癌风险的相关性。方法：计算机检索PubMed、EMABSE、CJFD、CBM、CNKI、VIP及万方数据库,检索时间截至2013-0l-01,收集关于EGF 6lAG;基因多态性与胃癌易感性的病例＝对照研究。由2名评价者按照纳入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-对照研究,1388例患者和2642例对照。与基因型AA比较,AG＋GG和GG基因型可增加罹患胃癌风险,AG＋GGvsAA的OR=1．28,95％CI：1．03～1．59,Z=2．19,P=0．03;GGvsAA的OR—1．34,95％C1：1．05～1．70,Z=2．36,P=0．02。AG基因型与胃癌风险无关,AGvsAA的OR—1．22,95％CI：0．97～1．53,Z=1．68,P=0．09;与等位基因A比较,等位基因G可增加罹患胃癌风险．OR=1．27,95％CI：1．13～1．43,Z=3．98,P〈0．0001。人种和对照来源的亚组分析结果显示,在中国人、日本人群及医院来源的对照组中,EGF基因多态性与胃癌风险存在相关性。其中,中国人GGWSAG＋AA的OR=1．3／1,95％CI：1．11～1．61,Z=3．04,P=0．002;GGvsAA的OR=1．55,95％CI：1．09～2．20,Z=2．44,P=0．01。日本人GGvsAA的OR=1．68,95％CI：1．O5～2．69,Z＝2．16,P＝0．03。医院来源GGVSAG＋AA的0R_=1．54．95％C1：1．19～2．00,Z＝3．29,P＝0．001;GG圳AA的OR=1．81,95％CI：1．14～2．88,Z＝2．53,P＝0．01．结论：EGF61A／G基因多态性与胃癌易感性相关,等位基因（j与基因型AG＋GG和GG均可增加罹患胃癌的风险。     

Clinical Implication of EGF A61G Polymorphism in the Risk of Non Small Cell Lung Adenocarcinoma Patients: A Case Control Study

Background: The epidermal growth factor (EGF) plays important roles in non-small cell lung cancer (NSCLC) susceptibility and functional polymorphism in the EGF (+61A/G) gene has been linked to increased risk of NSCLC. This study aimed to evaluate the role of the EGF +61A/G polymorphism in risk of NSCLC adenocarcinoma (ADC) occurrence and survival in an Indian population. Materials and Methods: This casecontrol study included 100 histopathologically confirmed NSCLC (ADC) patients and 100 healthy controls. EGF (A61G) was genotyped by AS–PCR to elucidate putative associations with clinical outcomes. The association of the polymorphism with the survival of NSCLC patients was estimated by Kaplan–Meier curves. Results: It was found that EGF 61AG heterozygous and GG homozygous genotype is significantly associated with increased risk of NSCLC (ADC) occurrence compared to AA genotype, [OR 2.61 (1.31-5.18) and 3.25 (1.31-8.06), RR 1.51(1.15-2.0) and 1.72 (1.08-2.73) and RD 23.2 (6.90-39.5) and 28.53(7.0-50.1) for heterozygous AG (p=0.005) and homozygous GG (p=0.009)]. Patients homozygous for the G allele exhibited a significantly poor overall survival. The median survival time for patients with EGF 61 AA, AG, and GG genotypes was 10.5, 7.4, and 7.1 months (p=0.02), respectively. NSCLC (ADC) patients with GG + AG exhibited 7.3 months median survival compared to the AA genotype (p=0.009). Conclusions: The present study revealed that the EGF A61G genotype may be a novel independent prognostic marker to identify patients at higher risk of occurrence and an unfavourable clinical outcome.     

Association Between Single Nucleotide Polymorphisms in the XRCC1 Gene and Susceptibility to Prostate Cancer in Chinese Men

Background: Prostate cancer (Pca) is one of the most common complex and polygenic diseases in men. TheX-ray repair complementing group 1 gene (XRCC1) is an important candidate in the pathogenesis of Pca. Thepurpose of this study was to evaluate the association between single nucleotide polymorphisms in the XRCC1gene and susceptibility to Pca. Materials and Methods: XRCC1 gene polymorphisms and associations withsusceptibility to Pca were investigated in 193 prostate patients and 188 cancer-free Chinese men. Results: Thec.910A>G variant in the exon9 of XRCC1 gene could be detected by polymerase chain reaction-restriction fragmentlength polymorphism (PCR-RFLP) and DNA sequencing methods. Significantly increased susceptibility toprostate cancer was noted in the homozygote comparison (GG versus AA: OR=2.95, 95% CI 1.46-5.42, χ2=12.36,P=0.001), heterozygote comparison (AG versus AA: OR=1.76, 95% CI 1.12-2.51, χ2=4.04, P=0.045), dominantmodel (GG/AG versus AA: OR=1.93, 95% CI 1.19-2.97, χ2=9.12, P=0.003), recessive model (GG versus AG+AA:OR=2.17, 95% CI 1.33-4.06, χ2=8.86, P=0.003) and with allele contrast (G versus A: OR=1.89, 95% CI 1.56-2.42,χ2=14.67, P<0.000). Conclusions: These findings suggest that the c.910A>G polymorphism of the XRCC1 geneis associated with susceptibility to Pca in Chinese men, the G-allele conferring higher risk.     

肿瘤坏死因子α-308基因多态性与非霍奇金淋巴瘤易感性的Meta分析

目的 探讨肿瘤坏死因子α(TNF-α)-308G＞A基因多态性与非霍奇金淋巴瘤(NHL)易感性的关系.方法 在PubMed、中国知网、万方数据知识服务平台等数据库,检索淋巴瘤(或lymphoma)和肿瘤坏死因子(tumor necrosis factor或TNF)、基因多态性(polymorphism或SNP或variant或mutation),获取相关文献,采用固定效应模型或随机效应模型进行数据合并统计.发表偏移的评估采用Begg漏斗图和Egger检验.结果 共纳入15篇文献,包含9 738例NHL患者和10 854例对照人群.对入选文献数据进行综合分析,纯合子基因模型(AA比GG:OR=1.55,95％CI 1.30 ～ 1.86,I2=42.4％)和隐性基因模型(AA比AG+GG:OR=1.53,95％CI 1.27～1.83,I2=41.8％)的统计结果显示,TNF-α-308 AA基因可能增加NHL的发病风险.按种族来源不同进行分层分析,结果表明A等位基因可增加高加索人群罹患NHL的风险(A比G、AA比GG、AG比GG、AA比AG+GG、AA+AG比GG),但可降低亚裔人群的发病风险(A比G、AG比GG、AA+AG比GG).结论 TNF-α-308 G＞A基因多态性与NHL的发病风险相关.     

Stromal cell-derived factor-1 (SDF-1) gene and susceptibility of Iranian patients with lung cancer

Stromal cell derived factor-1 (SDF-1), a CXC chemokine that play important roles in tumor growth, angiogenesis and metastasis of tumor cells, has a polymorphism at position 801 of its 3'-untranslated region, known as SDF1-3'A. This polymorphism has been investigated in HIV-1 infection and the susceptibility to breast cancer. In this investigation 72 lung cancer patients and 262 cases of normal healthy control were investigated for the genotype frequency of SDF-1 gene. Genotype frequency was carried out by PCR-RFLP method. Of 72 cancer patients 9 (12.5%) cases were emerged with AA genotype, 38 (52.8%) patients with AG and 25 (34.7%) with GG genotype. Comparison of these data with genotype frequency of SDF-1 gene of 262 normal healthy controls indicates a significant difference among patient and control groups (P=0.008). Results also showed that the frequency of AA and AG genotypes was higher among patients, while the frequency of GG genotype was lower compared to the controls. By considering the importance of SDF-1 in several physiological processes and also its significant biological behavior in cancer metastasis and on the basis of the results of this study we conclude that AA and AG genotypes of SDF-1 may be considered as factors increasing the susceptibility of Iranian patients to lung cancer.