IL-17 基因rs763780 位点的多态性与胃癌易感性的Meta分析

目的:用Meta 分析的方法评价IL-17 基因rs763780 位点的多态性与胃癌易感性的相关性。方法: 计算机检索PubMed、EMBASE、The Cochrane Library、Web of science、万方数据库、中国生物医学文献数据库、中文科技期刊数据库、中国期刊全文数据库,检索日期自各数据库开始建库至2017 年12 月,全面检索IL-17 基因rs763780 位点的多态性与胃癌易感性的病例对照研究文献,采用STATA 12.0 统计软件进行Meta 分析。结果: 最终纳入10 篇病例对照研究文献,共计3 892 例胃癌患者和4627 例健康对照。Meta 分析结果显示,IL-17 基因rs763780 位点多态性在等位基因模型(C vs T：OR=1.90, 95% CI=1.73～2.08)、相加模型(CC vs TT：OR=1.76, 95% CI=1.45～2.14)、共显性模型(CC vs CT：OR =1.26, 95% CI=1.13～1.42)、显性模型（CC vs CT+TT：OR=1.93, 95% CI=1.65～2.26）及与隐性模型（TT vs CT+CC：OR =1.67, 95% CI=1.38～2.03）下均与胃癌的易感性相关。结论：IL-17 基因rs763780位点多态性增加了胃癌的发病风险。     

端粒酶逆转录酶基因多态性与胃癌遗传易感性的研究

目的探讨端粒酶逆转录酶（TERT）基因rs2736098 和 rs2736100位点单核苷酸多态性与胃癌遗传易感性和幽门螺杆菌（Hp）感染的关系。方法 采用限制性片段长度多态性聚合酶链反应（PCR RFLP）检测297例胃癌患者（病例组）和306例非萎缩性胃炎患者（对照组）中TERT基因rs2736098和rs2736100位点的多态性;采用病理学诊断和13C尿素酶呼气试验检测Hp感染。结果 rs2736098位点各基因型频率在病例组和对照组中的分布差异无统计学意义（P＞0.05）,病例组rs2736100位点仅GG基因型频率显著高于对照组（27.0％ vs. 16.4％,P＜0.05）。Logistic回归分析显示,携带GG基因型个体罹患胃癌的风险是携带TT基因型个体的1.371倍（OR=1.371,95％CI：1.063～1.775,P=0.005）;在Hp阴性者中,GG型罹患胃癌的风险较TT型增加（OR=1.421,95％CI：0.988～2.042,P=0.046）;而在Hp阳性者中,未发现rs2736100位点的基因型与罹患胃癌的风险有关。结论 TERT基因rs2736100位点基因多态性可能与胃癌遗传易感性相关,而与Hp感染无关。     

XPC 基因 rs2228000（C/T）多态性与乳腺癌易感性的Meta分析

目的：定量探讨着色性干皮病 C 组（XPC）基因 rs2228000（C ／T）多态性与乳腺癌易感性之间的关系。方法通过计算机检索 PubMed、Cochrane Library、中国生物医学文献数据库（CBM）、万方医药期刊全文数据库、中国期刊全文数据库（CNKI）及维普数据库（VIP）,检索时间截至2015年12月,搜集有关 XPC rs2228000（C ／T）位点多态性与乳腺癌风险的病例对照研究。采用 STATA 12．0软件进行结果分析,计算比值比（OR）和95％CI。结果总共纳入8篇文献,包括9个病例对照研究（3850例乳腺癌患者和5047例健康对照）。纯合子模型（TT vs．CC：OR ＝1．28,95％CI 为1．08～1．52,Z ＝2．80, P ＝0．005）和隐性模型（TT vs．TC ＋CC：OR ＝1．23,95％CI 为1．05～1．43,Z ＝2．64,P ＝0．008）中 XPC rs2228000（C ／T）多态性与乳腺癌易感性有关,而等位基因模型、杂合子模型、显性基因模型中 XPC rs2228000（C ／T）位点多态性与乳腺癌风险无关（P ＞0．05）。在亚洲人群和 PCR-RFLP 亚组的4种基因模型中,XPC rs2228000（C ／T）多态性与乳腺癌易感性有关（T vs．C：OR ＝1．21,95％CI 为1．05～1．40, Z ＝2．63,P ＝0．009;TT vs．CC：OR ＝1．55,95％CI 为1．13～2．13,Z ＝2．70,P ＝0．007;TT ＋TC vs．CC：OR ＝1．26,95％CI 为1．02～1．55,Z ＝2．19,P ＝0．028;TT vs．TC ＋CC：OR ＝1．39,95％CI 为1．04～1．87, Z ＝2．23,P ＝0．026）。基于对照组来源的亚组分析,社区来源的纯合子模型中 XPC rs2228000（C ／T）多态性与乳腺癌发病风险有关（TT vs．CC：OR ＝1．27,95％CI 为1．02～1．57,Z ＝2．16,P ＝0．031）。结论XPC rs2228000（C ／T）多态性可能与乳腺癌风险有关,尤其在亚洲人群中,基因型 TT 可能增加乳腺癌发病风险。     

白细胞介素-28B rs12979860 T/C基因多态性与肝细胞癌易感性关系的 Meta 分析

目的：探讨白细胞介素-28B（IL-28B）rs12979860 T/ C 基因多态性与肝细胞癌（HCC）易感性的关联。方法计算机检索 PubMed、EMBase、中国知网数据库、中国生物医学文献数据库、维普数据库及万方数据库,检索时间截至2014年9月30日,收集有关 IL-28B rs12979860 T/ C 基因多态性与肝细胞癌易感性的病例-对照研究。由2名研究者按照纳入和排除标准独立选择文献、提取资料,采用 Rev-Man 5.2和 Stata 12.0软件进行 Meta 分析。结果最终纳入6个病例-对照研究,包括1138例患者和955例对照。各遗传模型 Meta 分析结果显示,IL-28B rs12979860 T/ C 多态性与肝细胞癌易感性的关联性有统计学意义,与基因型 CC 及 CT + CC 比较,基因型 TT 可增加人群罹患肝细胞癌的风险（TT ： CC：OR =2.26,95% CI 为1.40~3.64,Z =3.33,P =0.0009;TT ： CT + CC：OR =1.90,95% CI 为1.23~2.93, Z =2.89,P =0.004）。种族来源的亚组分析结果显示,在白种人群中,IL-28B rs12979860 T/ C 多态性与肝细胞癌易感性存在显著相关性（TT ： CC：OR =2.06,95% CI 为1.22~3.47,Z =2.70,P =0.007;TT ：CT + CC：OR =1.71,95% CI 为1.07~2.72,Z =2.23,P =0.03）。结论 IL-28B rs12979860 T/ C 基因多态性与肝细胞癌易感性相关,基因型 TT 可增加罹患肝细胞癌的风险。     

miR-196a-2基因多态位点rs11614913与乳腺癌易感性关系的Meta 分析

[目的]分析miR-196a-2基因多态位点rs11614913与乳腺癌易感性的关系.[方法]检索外文数据库Pubmed、Science Direct和中文数据库CNKI、万方,收集截止到2016年5月31日发表的关于miR-196a-2基因多态位点rs11614913与乳腺癌易感关系的病例对照研究,按纳入与排除标准筛选文献,利用Meta分析的方法对各研究数据进行统计学处理及异质性检验,评估发表偏倚并进行敏感性分析.[结果]共纳入15篇研究miR-196a-2基因多态位点rs11614913与乳腺癌易感关系的文献,包括6362例病例和7392例对照,结果显示:等位基因模型(T vs C)、隐形模型(TT vs CC+CT)和相加模型(TT vs CC)与降低乳腺癌发病风险相关,差异均有统计学意义(OR=0.89,95％CI:0.81～0.99;OR=0.83,95％CI:0.72～0.96;OR=0.79,95％CI:0.65～0.97).按种族进行亚组分析后发现,在亚洲人群中,等位基因模型(T vsC)、显性模型(TT+CT vs CC)、隐形模型(TT vs CC+CT)和相加模型(TT vs CC)也与降低乳腺癌发病风险相关(OR=0.85,95％CI:0.75～0.95;OR=0.83,95％CI:0.70～0.99;OR=0.78,95％CI:0.67～0.91;OR=0.72,95％CI:0.57～0.91),其余模型均不能认为与乳腺癌的易感性相关.高加索人群的各遗传模型均与乳腺癌的发病风险无显著相关性.[结论] miR-196a-2基因多态位点rs11614913的T等位基因和TT基因型可能与降低乳腺癌的发病风险相关.     

pre-miR-27a基因rs895819多态性与大肠癌易感性的Meta分析

目的 近年来,有关pre-miR-27a基因rs895819位点多态性与大肠癌易感性关系的研究日益增多,但结论并不一致.本研究从循证医学角度,综合评价pre-miR-27a基因rs895819位点多态性与大肠癌易感性的关系.方法 通过检索数据库PubMed、Cochrane Library、EMBASE以及中国知网数据库、万方数据库,收集有关pre-miR-27a基因rs895819位点多态性与大肠癌罹患风险关系的病例-对照研究.检索时间1998-01-01-2015-11-01.依据文献纳入及排除标准筛选相关文献,提取基本数据信息并进行文献质量评估.采用Stata 12.0软件行Meta分析,计算合并OR值和95％CI,并进一步行亚组分析和敏感性分析.结果 最终纳入6个病例-对照研究(包括2 025例大肠癌患者和2 320例非肿瘤对照者).Meta分析结果显示,pre-miR-27a基因rs895819多态性与大肠癌罹患风险具有显著的相关性,GvsA:OR=1.18,95％CI=1.08～1.30;GG vs AA/AG:OR=1.52,95％CI=1.26～1.97;GG vs AA:OR=1.53,95％CI=1.26～1.86,P值均＜0.05.亚组分析结果发现,亚洲人群也有相似的结论,Gvs A:OR=1.21,95％CI=1.09～1.35;AG/GG vs AA:OR=1.15,95％CI=1.00～1.32;GG vs AA/AG:OR=1.57,95％CI=1.27～1.93;GG vs AA:OR=1.59,95％CI=1.27～1.98,P值均＜0.05.结论 pre-miR-27a基因rs895819多态性与大肠癌易感性之间具有相关性,并且GG基因型具有增加罹患大肠癌的风险.     

XRCC1 Arg399Gln基因多态性与中国人群肝细胞癌易感性的Meta分析

目的 探讨XRCC1 Arg399Gln基因多态性与肝细胞癌（HCC）易感性的关系。方法 计算机检索PubMed、中国生物医学文献（CBM）、中国知网、万方及维普等数据库,收集有关XRCC1 Arg399Gln基因多态性与HCC易感性关系的病例对照研究,提取纳入文献的相关数据进行Meta分析,以病例组与对照组XRCC1 Arg399Gln各种基因模型的比值比（OR）为效应指标,发表偏倚采用Eggers检验和Beggs检验。结果 共17篇文献符合纳入标准,累计病例数3301例,对照组4156例。XRCC1 Arg399Gln基因多态性与中国人群HCC易感性有明显关联性（G/G vs. A/A：OR=1.32,95％CI：1.13～1.54,P=0.000;A/G vs. A/A：OR=1.25,95％CI：1.10～1.41,P=0.000;A/G+G/G vs. A／A：OR=1.22,95％CI：1.09～1.36,P=0000;G／G vs. A／A+A／G：OR=1.20,95％CI：1.04～1.39,P=0.014）。根据健康对照组来源不同的亚组分析中,所有地区或者控制人口来源医院的研究结果均显示,XRCC1 Arg399Gln 基因多态性与HCC易感性有明显关联性,但控制人口非医院来源的研究结果显示XRCC1 Arg399Gln 基因多态性与HCC易感性无明显关联性;根据地区不同分组的亚组分析中,在广西地区,除隐性遗传模型外（G/G vs. A/A+A/G：OR=1.25,95％CI：0.95～1.65,P=0.115）,其余遗传模型结果显示XRCC1 Arg399Gln基因多态性与广西地区HCC易感性有明显相关性（G/G vs. A/A：OR=1.47,95％CI：1.10～1.95,P=0.009;A/G vs. A/A：OR=1.35,95％CI：1.17～1.56,P=0.000;A/G+G/G vs.A／A：OR=133,95％CI：1.16～1.52,P=0.000）。结论 XRCC1 Arg399Gln 基因多态性可能增加中国人群HCC的易感性,尤其在广西地区。     

PRKAα1基因多态性与东亚人群胃癌易感性研究的meta分析

目的：综合评价PRKAα1基因5个单核苷酸多态性位点rs13361707C > T、rs10074991G > A、rs154268T > C、rs3805486T > C、rs6882903C > A多态性与东亚人群胃癌易感性的关系。方法：检索PubMed、中国知网、万方、维普等数据库收集关于PRKAα1基因多态性与胃癌易感性研究的文献。利用STATA 12.0软件计算比值比（OR）和95%可信区间（95% CI）,进行敏感性分析和发表偏倚的检测。结果：rs13361707C > T位点纳入9项研究,该位点多态性与东亚人群胃癌的易感性无统计学相关性。亚组分析显示,显性模型的合并OR=0.687,95% CI （0.614~0.769）,P=0.000;隐性模型的合并OR=0.662,95% CI （0.594~0.737）,P=0.000;加性模型的合并OR=0.553,95% CI （0.484~0.632）,P=0.000;共显性模型的合并OR=0.766,95% CI （0.682~0.859）,P=0.000;该结果提示在4种模型下韩国人群患胃癌风险降低。rs10074991G > A位点纳入3项研究,meta分析结果显示,显性模型的合并OR=0.590,95% CI （0.490~0.700）,P=0.000;隐性模型的合并OR=0.637,95% CI （0.535~0.759）,P=0.000;加性模型的合并OR=0.478,95% CI （0.385~0.593）,P=0.000;共显性模型的合并OR=0.651,95% CI （0.541~0.784）,P=0.000;该结果提示在4种模型下东亚人群患胃癌风险降低。亚组分析结果显示,在4种模型下韩国人群患胃癌风险降低。除隐性模型外,在其余3种模型下中国人群患胃癌风险降低。rs154268T > C、rs3805486T > C、rs6882903C > A这3个位点分别纳入2项研究,除隐性模型外,rs154268T > C位点在3种模型下韩国人群患胃癌风险增加,rs3805486T > C位点在4种模型下韩国人群患胃癌风险降低,rs6882903C > A位点在显性和加性模型下韩国人群患胃癌风险增加。Begg’s检测未发现发表偏倚（P > 0.05）,敏感性分析说明上述结果具有稳定性。结论：PRKAα1基因rs10074991G > A、rs154268T > C、rs3805486T > C、rs6882903C > A位点多态性与胃癌的易感性有关。     

COX-2基因多态性与非贲门胃癌的发病风险关联

目的 检测COX-2基因单核苷酸多态性(SNP) rs689466、rs5275、rs4648308与非贲门胃癌发病风险的关系.方法 采用TaqMan法对288例非贲门胃癌患者和281例健康对照者所检测的3个SNP进行基因分型;采用Haploview软件构建单体型,并用非条件性Logistic回归计算比值比(OR)及其95％可信区间(CI),以评估各等位基因、基因型及单体型与非贲门胃癌发病风险的关系.结果 rs5275C等位基因和rs4648308A等位基因可增加非贲门胃癌的发病风险;rs5275 CT和CC基因型及rs4648308GA基因型可使非贲门胃癌的发病风险增高(rs5275:CT vs.TT:OR=1.458,95％CI:1.015～2.096;CC vs.TT:OR=3.704,95％CI:1.184～11.59; rs4648308:GA vs.GG:OR=3.387,95％CI:1.953～5.872).单体型分析结果显示:单体型ACA与GTG相比,可增加非贲门胃癌发病风险,OR=3.198,95％CI:1.854～5.516.结论 COX-2基因多态性生rs5275、rs4648308与非贲门胃癌发病风险关联.     

EPHX1 A415G基因多态性与胃肠道肿瘤易感性的Meta分析

目的 探讨微粒体环氧化物水解酶（EPHX1）A415G基因多态性与胃肠道肿瘤易感性的关系。方法 计算机检索PubMed、EMBASE、CBM、维普、万方及中国知网数据库,检索时间截至2013年5月,收集关于EPHX1 A415G基因多态性与胃肠道肿瘤易感性的研究。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STATA 110软件进行Meta分析,计算合并OR值及其95％CI并行敏感性分析和发表偏倚的评估。结果 最终纳入18篇文献,包括5852例胃肠道肿瘤患者和8710例对照人群。纳入的结果在GG vs. AA、GA vs. AA、GG/GA vs. AA和GG vs. GA/AA基因型的比较模型中均无异质性。各遗传模型Meta分析结果显示,EPHX1 A415G基因多态性与胃肠道肿瘤遗传易感性的关联性无统计学意义［GG vs. AA： OR=1.063,95％CI： 0.888～1.273;GA vs. AA： OR=0.935,95％CI： 0.867～1.009;GG/GA vs. AA： OR=0.948,95％CI： 0.882～1.020;GG vs. GA/AA： OR=1.091,95％CI： 0.913～1.304］。结论 EPHX1 A415G基因多态性与胃肠道肿瘤易感性之间无明显相关性。     

Quantitative assessment of the association between miR-196a2 rs11614913 polymorphism and cancer risk: evidence based on 45,816 subjects

MicroRNAs (miRNAs) are small non-coding RNA molecules, which participate in diverse biological processes and may regulate tumor suppressor genes or oncogenes. Single nucleotide polymorphisms (SNPs) in miRNA may contribute to diverse functional consequences, including cancer development, by altering miRNA expression. Numerous studies have shown the association between miR-196a2 rs11614913 SNPs and cancer risk; however, the results are generally debatable and inconclusive, mainly due to limited statistical power. We carried out a meta-analysis of 46 studies including 20,673 cases and 25,143 controls to assess the association between the miR-196a2 rs11614913 and cancer risk by pooled odds ratios (ORs) and 95 % confidence intervals (CIs). Overall, we found a significant association between the rs11614913 (C?>?T) polymorphism and cancer susceptibility (recessive model, OR?=?0.89, 95 % CI?=?0.81–0.98). In the stratified analysis by cancer type, significant association of cancer risk was observed in lung cancer (allelic contrast, OR?=?0.89, 95 % CI?=?0.82–0.97; homozygote comparison, OR?=?0.79, 95 % CI?=?0.67–0.94; recessive model, OR?=?0.84, 95 % CI?=?0.74–0.96) and liver cancer (allelic contrast, OR?=?0.88, 95 % CI?=?0.79–0.99; homozygote comparison, OR?=?0.77, 95 % CI?=?0.61–0.98; heterozygote comparison, OR?=?0.84, 95 % CI?=?0.74–0.95; dominant model, OR?=?0.82, 95 % CI?=?0.73–0.92). During further stratified analysis by ethnicity, the rs11614913 polymorphism showed statistically significant association with increased risks of cancer in Asians (heterozygote model, OR?=?1.15, 95 % CI?=?1.01–1.30) but not in Caucasians. This meta-analysis suggests that the miR-196a2 rs11614913 polymorphism may contribute to decreased susceptibility to cancer, especially including liver cancer and lung cancer. However, it may be a risk factor for cancer development in Asians. Larger, better studies of homogeneous cancer patients are needed to further assess the correlation between this polymorphism and cancer risk.     

Association Analysis of Single Nucleotide Polymorphisms in miR-146a and miR-196a2 on the Prevalence of Cancer in Elderly Japanese: A Case-Control Study

Background: Single nucleotide polymorphisms (SNPs) affecting microRNA (miR) sequences may influencecarcinogenesis. Our current study primarily aimed to confirm previously conducted association studies betweenrs2910164 found on miR-146a, and rs11614913 located on miR-196a2 polymorphisms and cancer phenotypesin the Japanese elderly population. rs2910164 (G/C) and rs11614913 (T/C) polymorphisms were determined bygenotyping on the samples collected from 1,351 consecutive autopsy cases registered in the Japanese SNPs forgeriatric research (JG-SNP) data base. Cancer samples were systematically reviewed, pathologically verified andassessed with respect to miR-146a and miR-196a2 genotypic variation. The current study covered 726 males and625 females with a mean age of 80.3±8.9 years. The study included 524 subjects without cancer and 827 subjectswith at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. Males withcancers (n=467) were more numerous than females (n=360). Both rs11614913 (CT: TT adjusted odds ratio (OR)95% confidence interval (95%CI)=0.98 (0.75-1.28), p=0.873, CC: TT adjusted OR (95%CI)=1.06 (0.76-1.47),p=0.737, CT+CC: TT, adjusted OR (95%CI)=0.99 (0.77-1.29), p=0.990), and rs2910164 (CG: CC adjusted OR(95%CI)=1.12 (0.87-1.44), p=0.383, GG: CC adjusted OR (95%CI)=1.03 (0.71-1.48), p=0.887, CG+GG: CCadjusted OR (95%CI)=1.10 (0.87-1.39), p=0.446) polymorphisms did not show significant association with overallcancer in all subjects. However, “CC” genotype in rs11614913 polymorphism was significantly associated withincreased gastric cancer (n=160) in all subjects (CC: CT+TT, adjusted OR (95%CI)=1.50 (1.02-2.22), p=0.040).We found that rs11614913 and rs2910164 do not pose general cancer risk, but rs11614913 may influence gastriccancer in Japanese elderly population. Confirmation of our study results requires further investigations withlarger subject populations.     

超氧化物歧化酶2基因rs4880位点单核苷酸多态性与食管癌易感性的关系

目的探讨超氧化物歧化酶2（SOD2）基因rs4880位点单核苷酸多态性与食管鳞状细胞癌发生的关系。方法 收集2013年10月至2015年11月经病理确诊的380例食管鳞状细胞癌患者（食管癌组）的外周静脉血用基质辅助激光解吸／电离飞行时间质谱法（MALDI TOF MS）分析SOD2 rs4880的基因分型,同时收集380例非肿瘤患者（对照组）的外周静脉血进行对比。采用Hardy-Weinberg平衡分析SOD2 rs4880的遗传平衡情况,采用两分类Logistic多元回归比较两组SOD2 rs4880基因型和等位基因的分布差异,并计算比值比（OR）及其95％可信区间（95％CI）来评价发生食管鳞状细胞癌的相对风险。结果 食管癌组和对照组的SOD2 rs4880基因型频率均符合Hardy-Weinberg平衡。食管癌组和对照组的SOD2 rs4880 T＞C 3种基因型TT、TC、CC的分布频率分别为71.84％、22.37％、3.68％和74.74％、20.79％、3.42％,两组基因型分布频率的差异无统计学意义（P＞0.05）。两分类Logistic多元回归分析的结果显示：（1）与携带SOD2 rs4880 TT基因型的个体相比较,SOD2 rs4880 TC基因型、CC基因型发生食管癌的风险升高1.12倍,但差异无统计学意义（OR=1.12,95%CI：0.79～1.59,P＞0.05;OR=1.12,95%CI：0.52～2.43,P＞0.05）;（2）隐性模型中相对于TT+TC基因型,携带纯合突变CC基因型发生食管癌的风险升高1.09倍,差异无统计学意义（OR=1.09,95%CI：0.51～2.36,P＞0.05）;（3）经调整年龄、性别、吸烟及饮酒状态后,与携带SOD2 rs4880 TT基因型的个体相比较,携带SOD2 rs4880 CC基因型发生食管癌的风险升高1.10倍,差异亦无统计学意义（OR=1.10,95%CI：0.50～2.39,P＞0.05）。结论 SOD2 rs4880位点基因多态性可能不是食管鳞状细胞癌发生的易感因素,需要进一步扩大样本量予以证实。     

XRCC3Thr241Met基因多态性与胃癌易感性的Meta分析

目的:综合评价X线修复交叉互补基因3(X-ray repair cross-complementing group 3,XRCC3)Thr241 Met单核苷酸基因多态性与胃癌易感性的关系.方法:计算机检索中国期刊全文数据库(CNKI)、中国生物医学文献数据库(CBM)、中文科技期刊全文数据库(VIP)、万方数据库、PubMed、Cochrane Library,收集国内外公开发表的关于XRCC3 Thr241Met基因多态性与胃癌易感性的病例-对照研究相关文献.采用Stata 12.0软件进行统计学分析,计算合并比值比(odd ratio,OR)及95％可信区间(confidence interval,CI).结果:共纳入12篇文献,从总的效应量分析,XRCC3 Thr241 Met基因多态性与胃癌易感性间无明显相关性,按种族进行亚组分析,提示在亚洲人群中隐性模型(MM vs MT +TT:OR =2.59,95％ CI:1.98 ～ 3.39,P＜0.001)、等位模型(Mvs T:OR=1.57,95％ CI:1.05～2.35,P=0.028)、纯合子模型(MM vs TT:OR =3.39,95％ CI:2.17～5.31,P＜O.001)均具有统计学意义.基于对照组来源及是否符合Hardy-Weinberg遗传平衡进行的亚组分析结果提示突变型与野生型无明显统计学意义.结论:在亚洲人群中,XRCC3 Thr241 Met基因多态性可能与胃癌易感性有关.     

miRNA-146a rs2910164基因多态性与肝癌易感性的Meta分析

目的系统评价miRNA-146ars2910164基因多态性与肝癌易感性之间的相关性。方法全面检索PubMed、Excerpta Medica Database（Embase）、中国生物医学文献数据库（Chinese Biomedical Literature Database,CBM）、the Cochrane Library、维普、谷歌学术和万方数据库,文献检索起止时间均为从建库至2013-11。搜集研究miRNA-146a rs2910164基因多态性与肝癌相关性的文献。对miRNA-146ars2910164G/C各基因型比较模型,包括G与C、GG与CC、GG与GC、GC与CC、GG＋GC与CC以及GG与GC＋CC,在病例组和对照组的分布情况进行定量综合分析。结果共纳入9篇文献,共有2 951例肝癌及3 217名健康对照。miRNA-146ars2910164基因多态性与肝癌易感性之间具有相关性,GG与CC比较的OR=1.21,95%CI为1.04～1.42,P=0.02;GC与CC比较的OR=1.15,95%CI为1.02～1.29,P=0.02;GG＋GC与CC比较的OR=1.16,95%CI为1.04～1.29,P=0.009。亚组分析结果发现,在亚洲人群中也有相似的结论,GC与CC比较的OR=1.15,95%CI为1.02～1.29,P=0.02;GG＋GC与CC比较的OR=1.16,95%CI为1.04～1.30,P=0.009。结论 miRNA-146ars2910164基因多态性与肝癌易感性之间具有相关性,并且miRNA-146a rs2910164基因多态性的CC基因型可能是肝癌的保护因素。     

Increased Risk of Thai Childhood Acute Lymphoblastic Leukemia with the MiR196a2 T>C Polymorphism

Objectives: This study assessed associations of the miR196a2 (rs11614913) T>C polymorphism withsusceptibility to childhood acute lymphoblastic leukemia (ALL) and clinical outcomes. Materials and Methods: Blood DNA samples from 104 childhood ALL patients and 180 healthy children were studied for the miR-196a2 (rs11614913) polymorphism using a polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) approach. Results: The frequency of the miR-196a2 (rs11614913) T allele in controls was 0.51 compared with 0.33 in ALL cases. In this study, CC, TC heterozygote and CC/TC genotypes were significantly associated with increase childhood ALL susceptibility compared with the TT wild type (OR =4.321, 95% CI = 2.091-8.930 p=0.000, OR = 2.248, 95% CI =1.103-4.579, p=0.024, OR = 2.921, 95% CI = 1.504-5.673 p=0.001, respectively). However, the miR-196a2 (rs11614913) T>C polymorphism was not associated with demographic data or clinico-pathological data in ALL cases. Conclusion: CC, TC and CC+TC genotypes of miR-196a2 (rs11614913) was significantly associated with increased susceptibility in Thai childhood ALL but not with clinical variables.     

Association of a common genetic variant in prostate stem-cell antigen with gastric cancer susceptibility in a Korean population

A recent genome wide association study (GWAS) indentified a significant association between rs2294008 (C > T) polymorphism in prostate stem-cell antigen (PSCA) and increased risk of gastric cancer in Japanese and Korean populations. The aim of this study was to determine whether rs2294008 polymorphism is associated with risk of gastric cancer in a Korean population. We conducted a large-scale case-control study of 3,245 gastric cancer patients and 1,700 controls. The frequencies of the CC, CT, and TT genotypes of rs2294008 polymorphism were 17.8%, 49.9%, and 32.3% in the gastric cancer patients; and 24.4%, 48.1%, and 27.5% in the controls, respectively. We found that the CT and TT genotypes were associated with a significantly increased risk of gastric cancer (OR(CT) = 1.50, 95% confidence intervals, 95% CI: 1.28-1.76; OR(TT) = 1.71, 95% CI: 1.43-2.04), compared with the CC genotype. Further, stratified by tumor location and histological type, the effect of the rs2294008 T allele was larger in cardia (OR(TT) = 2.62, 95% CI = 1.42-4.85) than non-cardia (OR(TT) = 1.67, 95% CI = 1.40-2.00), in diffuse-type (OR(TT) = 2.00, 95% CI: 1.55-2.59) than in intestinal-type (OR(TT) = 1.51, 95% CI: 1.22-1.86). Our study showed that rs2294008 in the PSCA gene was associated with increased risks of gastric cancer in a Korean population, suggests that rs2294008 might play an important role in gastric carcinogenesis.     

Genetic Association of XRCC1 Gene rs1799782, rs25487 and rs25489 Polymorphisms with Risk of Thyroid Cancer: a Systematic Review and Meta-Analysis

Background: A number of case-control studies have evaluated associations between the X-ray cross complementary group 1 protein (XRCC1) gene rs1799782 (Arg194Trp), rs25487 (Arg399Gln) and rs25489 (Arg280His) polymorphisms and thyroid cancer (TC) risk, but the results remain inconclusive. Materials and Methods: A systematic literature search was performed using PubMed and Google Scholar Search. According to defined criteria data were extracted and pooled odds ratios with 95% confidence intervals were calculated under five genetic models. Results: A total of 8 studies with 1,672 cases and 2,805 controls for the rs1799782 polymorphism, 14 studies with 2,506 cases and 5,180 controls for the rs25487 polymorphism, and 11 studies with 2,197 cases and 4,761 controls for the rs25489 polymorphism were included in this meta-analysis. Overall, there was a statistical association between XRCC1 rs1799782 polymorphism and TC risk with the homozygote genetic model (TT vs. CC: OR = 1.815, 95% CI = 1.115-2.953, p= 0.016) and the recessive genetic model (TT vs. TC+CC: OR = 1.854, 95% CI = 1.433-2.399, p= <0.001). In the subgroup analysis by ethnicity, significantly increased TC risk was observed only in Asians under the recessive model (TT vs. TC+CC: OR = 1.816, 95% CI = 1.398-2.358, p= <0.001). In addition, there was no positive association between XRCC1 rs25487 and rs25489 polymorphisms and risk of TC. However, there was a significant association between XRCC1 rs25487 polymorphism risk of TC among Caucasians with allele genetic comparison (A vs. G: OR= 0.882, 95% CI = 0.794-0.979, p= 0.136) and dominant genetic comparison (AA+AG vs. GG: OR=0.838, 95% CI = 0.728-0.965, p= 0.014). Conclusions: The results of our meta-analysis suggest an increased risk of TC with the XRCC1 rs1799782 and rs25487 polymorphisms. However, the XRCC1 rs25489 polymorphism appeared to be without influence.     

The NQO1 rs1800566 Polymorphism and Risk of Bladder Cancer: Evidence from 6,169 Subjects

Objective: The NAD(P)H:quinone oxidoreductase 1 (NQO1) rs1800566 polymorphism, leading to prolinetoserineamino-acid and enzyme activity changes, has been implicated in bladder cancer risk, but individuallypublished studies showed inconsistent results. We therefore here conducted a meta-analysis to summarize thepossible association. Methods: A systematic literature search up to August 27, 2012 was carried out in PubMed,EMBASE and Wanfang databases, and the references of retrieved articles were screened. Crude odds ratios (ORs)with 95% confidence intervals (CIs) were analyzed for homozygote contrast (TT vs. CC), additive model (T vs.C), dominant model (TT+CT vs. CC), and recessive model (TT vs. CC+CT) to assess the association using fixedorrandom-effect models. Results: We identified 12 case-control studies including 3,041 cases and 3,128 controlsfor the present meta-analysis. Significant association between NQO1 rs1800566 genetic polymorphism and riskof bladder cancer was observed in the additive model (OR = 1.15, 95% CI = 1.01-1.30, p = 0.030). Moreover, inthe subgroup analysis stratified by ethnicity, significant associations were observed in Asians (OR = 1.26, 95%CI = 1.08–1.47, p = 0.003 for T vs. C; OR = 1.68, 95% CI = 1.21-2.32, p = 0.002 for TT vs. CC; OR = 1.50, 95%CI = 1.13-1.98, p = 0.005 for TT vs. CT+CC) but not in Caucasians. Conclusions: The results suggest that NQO1rs1800566 genetic polymorphism may contribute to bladder cancer development, especially in Asians.