岩藻糖基转移酶2基因多态性与炎症性肠病易感性Meta分析

目的探讨岩藻糖基转移酶2(fucosyltransferase 2,FUT2)在A385T位点和G428A位点的基因多态性与炎症性肠病(inflammatory bowel disease,IBD)易感性的关系.方法计算机检索EMBASE、PubMed、EBM Reviews、Ovid、Springer、中国期刊全文数据库(CNKI)、万方数字化期刊全文数据库,查找关于FUT2基因多态性与IBD相关性的研究,对纳入文献进行质量评价,提取有效数据,使用Review Manager 5.3和Stata 12.0软件进行Meta分析,并用Begg's漏斗图进行发表偏倚检测.结果共纳入10篇文献,病例组3682例,对照组5470例.各种遗传模型在溃疡性结肠炎(ulcerative colitis,UC)中,显性遗传模型[(AA+AT)vs TT]中OR=1.00(95%CI:0.83-1.21),[(GG+GA)vs AA]中OR=1.05(95%CI:0.81-1.36);隐性遗传模型[(AT+TT)vs AA]中OR=0.96(95%CI:0.73-1.25),[(GA+AA)vs GG]中OR=0.70(95%CI:0.36-1.36);共显性遗传模型中(AA vs TT)中OR=1.02(95%CI:0.82-1.27),(GG vs AA)中OR=1.23(95%CI:0.93-1.63);等位基因模型(A vs T)中OR=1.06(95%CI:0.95-1.17),(G vs A)中OR=1.18(95%CI:0.68-2.04).各种遗传模型在克罗恩病(Crohn's disease,CD)中,显性遗传模型[(AA+AT)vs TT]中OR=0.60(95%CI:0.43-0.85),[(GG+GA)vs AA]中OR=0.51(95%CI:0.38-0.70);隐性遗传模型[(AT+TT)vs AA]中OR=0.99(95%CI:0.73-1.35),[(GA+AA)vs GG]中OR=1.49(95%CI:1.17-1.91);共显性模型(AA vs TT)中OR=1.37(95%CI:0.95-1.98),(GG vs AA)中OR=0.46(95%CI:0.33-0.65);等位基因模型(G vs A)中OR=0.67(95%CI:0.57-0.79),(G vs A)中OR=0.67(95%CI:0.57-0.79).结论 FUT2 A385T与G428A基因多态性与UC易感性无关.亚洲人群中FUT2 A385T上基因型TT会增加CD的发病风险.FUT2 G428A多态性与CD相关,携带等位基因A会增加CD的易感性.     

IL-17A基因多态性与自身免疫性疾病易感性关系的Meta分析

目的探讨IL-17A基因多态性与自身免疫性疾病(autoimmune disease,AID)易感性的关系。方法计算机检索数据库,收集有关IL-17A基因多态性与AID易感性病例-对照研究,文献相关数据进行Meta分析,以病例组与对照组IL-17A基因多态性不同位点各种基因模型的比值比(OR)及95%CI为效应指标,并根据研究病种进行亚组分析。结果共14项研究符合纳入标准。Meta分析表明IL-17A rs2275913G/C多态性与AID易感性无明显相关性[AA vs GG:OR=0.963,95%CI:0.862~1.076,P=0.508;GA vs GG:OR=0.913,95%CI:0.741~1.126,P=0.395;GA/AA vs GG:OR=0.960,95%CI:0.868~1.062,P=0.431;AA vs GG/GA:OR=1.015,95%CI:0.916~1.124,P=0.781]。亚组分析表明IL-17A rs2275913G/C多态性与炎性肠疾病易感性无明显相关性。结论 IL-17A rs2275913G/C多态性与自身免疫性疾病无明显相关性。     

PSCA rs2294008位点多态性与胃癌癌前病变关系的Meta分析

目的系统评价前列腺干细胞抗原(PSCA)rs2294008位点多态性与胃癌癌前病变是否存在相关性。方法应用计算机检索电子数据库Pub Med、Sino Med、CNKI、万方、VIP,按纳入标准搜索含有研究PSCA rs2294008多态性与胃癌癌前病变相关性的文章,并对所纳入文献进行Meta分析。结果共5篇文章纳入研究,病例组2 310例,对照组3 240例,研究表明,PSCA ra2294008等位基因模型、加性模型、共显性模型、显性模型与胃癌癌前病变的易感性有关,差异有统计学意义(T vs C:OR=1.18,95%CI:1.09~1.28,P0.0001;TT vs CC:OR=1.46,95%CI:1.08~1.97,P=0.01;CT vs CC:OR=1.25,95%CI:1.09~1.42,P=0.0009;CT+TT vs CC:OR=1.31,95%CI:1.16~1.49,P0.0001),隐性模型与胃癌癌前病变的易感性有关,但差异无统计学意义(TT vs CT+CC:OR=1.24,95%CI:0.93~1.66,P=0.15)。PSCA突变等位基因T增加了萎缩性胃炎的易感性,差异有统计学意义(T vs C:OR=1.24,95%CI:1.12~1.38,I2=24,P0.0001;TT vs CC:OR=1.60,95%CI:1.28~2.01,I2=3,P0.0001;CT vs CC:OR=1.42,95%CI:1.17~1.72,I~2=0,P=0.0004;CT+TT vs CC:OR=1.47,95%CI:1.22~1.77,I~2=0,P0.0001;TT vs CC:OR=1.24,95%CI:1.04~1.47,I2=47,P=0.02)。结论 PSCA rs2294008位点多态性与胃癌癌前病变有相关性。     

白细胞介素8基因多态性与新疆汉族迟发型阿尔茨海默病关系的研究

目的探讨白细胞介素8(IL-8)基因-251A/T多态性与新疆汉族人群迟发性阿尔茨海默病(LOAD)遗传易感性的关系。方法选择老年患者80例为LOAD组,同期体检者80例为对照组。采用PCR-RFLP检测IL-8基因-251A/T多态性分布。结果 2组AA基因型分布及A等位基因频率比较,差异有统计学意义(16.3%vs 7.5%,P=0.035;41.3%vs 27.5%,P=0.010)。进一步分析显示,LOAD组A等位基因频率可能是LOAD的危险因素(OR=1.851,95%CI:1.159².957,P=0.010);AA基因型患LOAD的危险性是TT基因型的3.370倍(OR=3.370,95%CI:1.1432.957,P=0.010);AA基因型患LOAD的危险性是TT基因型的3.370倍(OR=3.370,95%CI:1.143⁹.939,P=0.023);AT基因型与LOAD发病风险不相关(OR=1.944,95%CI:0.9949.939,P=0.023);AT基因型与LOAD发病风险不相关(OR=1.944,95%CI:0.994³.803,P=0.051)。结论 IL-8基因-251A/T多态性与LOAD发病风险有一定关系。     

维生素D受体基因多态性与1型糖尿病易感性的Meta分析

目的探讨维生素D受体(VDR)基因多态性与T1DM易感性的关系。方法通过检索PubMed、Web of Science、WanFang等数据库获得相关文献,计算相关基因位点的OR值和95%CI。结果共纳入文献28条。分析结果发现,BsmI和ApaI多态性是亚洲T1DM人群的易感基因[B vs b:OR(95%CI)=1.53(1.06~2.20),P=0.024;AAvs aa:OR(95%CI)=1.60(1.06~2.40),P=0.023]。结论 BsmI和ApaI多态性可能是亚洲T1DM人群的易感基因。     

IL-12RB2 rs3790567A/G位点单核苷酸多态性与原发性胆汁性肝硬化易感性的Meta分析

目的评价IL-12RB2 rs3790567A/G位点单核苷酸多态性与原发性胆汁性肝硬化(primary biliary cirrhosis,PBC)易感性的关系。方法通过计算机检索Pub Med、Embase、the Cochrane Library、Web of Science、中国知网、万方等中英文数据库,检索IL-12RB2 rs3790567A/G位点单核苷酸多态性与PBC相关的病例-对照研究。以PBC组与对照组人群基因型频率的OR值和95%CI为效应指标,采用随机或固定效应模型进行定量合并分析,并进行偏倚评估和敏感性分析。采用Rev Man 5. 3软件进行Meta分析。结果本研究共纳入文献6篇,PBC组(病例组) 1 584例,健康对照组2 648名。Meta分析结果表明,IL-12RB2 rs3790567A/G位点与PBC发病因素密切相关。5个基因型结果如下:显性模型:AA+AG vs GG,OR=1. 20,95%CI:1. 11～1. 29,差异有统计学意义(P 0. 05);隐性模型:AA vs AG+GG,OR=1. 59,95%CI:1. 25～2. 02,差异有统计学意义(P 0. 05);共显性模型:AG vs AA,OR=0. 83,95%CI:0. 53～1. 32,差异有统计学意义(P 0. 05); GG vs AA,OR=0. 03,95%CI:0～0. 07,差异有统计学意义(P 0. 05);等位基因模型A vs G,OR=1. 02,95%CI:0. 72～1. 45,差异无统计学意义(P 0. 05)。以研究地理位置及种族不同进行亚组分析,亚洲人显性基因模型:AA+AG vs GG,OR=1. 17,95%CI:0. 89～1. 55,差异无统计学意义(P=0. 26)。高加索人显性基因模型:AA+AG vs GG,OR=1. 30,95%CI:1. 17～1. 44,差异有统计学意义(P 0. 05);亚洲人隐性基因模型AA vs AG+GG,OR=1. 39,95%CI:1. 01～1. 91,差异无统计学意义(P=0. 05)。高加索人隐性基因模型:AA vs AG+GG,OR=1. 94,95%CI:1. 34～2. 81,差异有统计学意义(P 0. 05);亚洲人等位基因模型A vs G:OR=1. 26,95%CI:0. 70～2. 26,P 0. 05,高加索人A vs G,OR=1. 02,95%CI:0. 72～1. 45,差异无统计学意义(P 0. 05)。结论 IL-12RB2 rs3790567A/G在PBC AA和AA+AG基因模型中易感性显著增加,且通过亚组分析,证明种族间差异有统计学意义。     

MTHFR基因1298A>C位点多态性与亚洲人群乳腺癌易感性的Meta分析

目的采用Meta分析评价MTHFR基因1298AC位点多态性与亚洲人群乳腺癌发病风险的相关性。方法计算机检索PubMed、EMBASE、web of science、中国生物医学文献数据库、CNKI数据库、VIP数据库和万方数据库,搜集国内外关于MTHFR基因1298AC位点多态性与乳腺癌易感性的病例对照研究,检索时限均为建库至2016年8月。由2位研究者独立进行文献筛选及资料提取,采用Stata12. 0软件行Meta分析。结果最终纳入17个病例对照研究,包括5 680例乳腺癌患者,6 403例对照。Meta分析结果显示:对于亚洲人群,MTHFR基因1298AC位点多态性与亚洲人群乳腺癌发病风险无相关性[AA vs AC:OR=1. 07,95%CI(0. 99～1. 15),P=0. 653; AC vs CC:OR=0. 89,95%CI(0. 76～1. 05),P=0. 891; AA vs CC:OR=0. 92,95%CI(0. 79～1. 08),P=0. 906; AA vs AC+CC:OR=1. 05,95%CI(0. 97～1. 13),P=0. 630; AA+AC vs CC:OR=0. 92,95%CI(0. 79～1. 07),P=0. 905]。结论MTHFR基因1298AC位点多态性不增加亚洲人群乳腺癌的发病风险。     

甘露糖结合凝集素基因多态性与结核易感性关系的荟萃分析

目的综合评价甘露糖结合凝集素(mannose-bindinglectin,MBL)基因多态性与结核易感性关系。方法通过计算机检索中国知网、维普、万方、Pub Med、EMBASE、Web of Science、Cochrane图书馆截止2013年3月国内外公开发表的有关甘露糖结合凝集素基因多态性与结核易感性关系的相关文献。按Cochrane系统评价方法,采用Stata11.0进行Meta分析。结果入选21项病例对照研究包括4161例患者及4955例正常对照者,Meta分析结果显示等位基因模型(OR 0.88,95%CI 0.67~1.16),共显性模型OO vs.AA(OR 1.39,95%CI 0.80~2.41);AO vs.AA(OR 1.11,95%CI 0.90~1.38)隐形基因模型:(OR 1.36,95%CI 0.88~2.10),显性基因模型(OR 1.13,95%CI 0.89~1.44),总体上,MBL基因多态性与肺结核易感性无显著关联性,但按人种进行亚组分析显示,MBL多态性明显增加了亚洲人群的结核易感性(OO+AO/AA:OR 1.27 95%CI 1.03~1.56),但未发现与高加索人群、非洲人群相关。结论 MBL基因多态性增加了亚洲人群结核病易感性。     

白细胞介素1A基因3'-UTR I/D多态性与中国汉族人群癌症易感性的Meta分析

目的综合分析白细胞介素(IL)1A基因rs3783553单核苷酸多态性与中国汉族人群癌症易感性的关系。方法检索Pubmed、Springer、EMBASE以及中国知网、万方和生物医学文献数据库,检索有关IL-1A基因rs3783553位点多态性与癌症易感性的病例对照研究,利用STATA12.0软件行Meta分析,并进一步行亚组分析、敏感性分析及发表偏倚检测。结果本研究共纳入14篇文献,共计12 369例研究对象,其中癌症患者5 708例,健康对照者6 661例。Meta分析结果显示,等位基因模型I vs.D(OR=0.82,95%CI:0.75~0.89)、纯合子模型II vs.DD(OR=0.62,95%CI:0.55~0.70)、杂合子模型ID vs.DD(OR=0.86,95%CI:0.80~0.93)、隐性基因模型II vs.ID/DD(OR=0.68,95%CI:0.60~0.76)以及显性基因模型II/ID vs.DD(OR=0.81,95%CI:0.75~0.87)中各基因型的癌症易感性差异均存在统计学意义(P均<0.05)。亚组分析结果显示,该基因位点多态性可能与我国汉族人群罹患消化系统恶性肿瘤以及女性罹患生殖系统癌症的风险降低有关。结论 IL-1A基因rs3783553多态性与中国汉族人口癌症易感性相关,其中I等位基因可能是中国汉族人群的保护因素,而等位基因D则可能是其癌症易感因素。     

白细胞介素-8基因-781C/T多态性与肝癌及鼻咽癌发病风险的相关性

目的探讨肿瘤细胞侵袭相关因子白细胞介素(IL)-8遗传多态性和广西壮族人群肝癌与鼻咽癌易感性的关系。方法收集广西壮族肝癌患者260例与鼻咽癌患者251例,同时选取广西壮族健康人群270例为对照。利用单碱基延伸PCR技术和DNA测序法,检测广西壮族肝癌患者、鼻咽癌患者和健康对照者的IL-8基因-781 C/T位点单核苷酸多态性,再用χ~2检验比较基因型和等位基因型分布频率在病例组和对照组之间的差异。结果 IL-8基因位点-781 C/T在肝癌组和对照组之间的基因型和等位基因频率分布无统计学差异(CT/CC:OR=1.14,95%CI=0.79~1.64,χ~2=0.509,P=0.476;TT/CC:OR=0.61,95%CI=0.34~1.10,χ~2=2.775,P=0.096;T/C:OR=0.89,95%CI=0.69~1.15,χ~2=0.778,P=0.363)。同时,IL-8基因位点-781 C/T在鼻咽癌组和对照组之间的基因型和等位基因频率分布也无统计学差异(CT/CC:OR=1.29,95%CI=0.86~1.88,χ~2=1.765,P=0.184;TT/CC:OR=1.34,95%CI=0.79~2.27,χ~2=1.172,P=0.279;T/C:OR=1.18,95%CI=0.92~1.52,χ~2=1.749,P=0.186)。结论在广西壮族人群中,IL-8基因-781 C/T位点的遗传多态性可能和肝癌与鼻咽癌的易感性无关。     

Relationship between apurinic endonuclease 1 Asp148Glu polymorphism and gastrointestinal cancer risk: An updated meta-analysis

AIM:To evaluate the relationship between apurinic endonuclease 1(APE1) Asp148 Glu polymorphism and the susceptibility to gastrointestinal(GI) cancers.METHODS:We searched Pub Med, ISI Web of Knowledge, and Chinese National Knowledge Infrastructure(CNKI) databases updated on July 15, 2014 for relevant studies.Only case-control studies comparing APE1 Asp148 Glu polymorphism and GI cancer risk were included.We excluded studies reporting only standardized incidence ratios without control groups and those without detailed genotyping data.Meta-analysis was performed on 17 studies involving 4856 cancer patients and 6136 cancer-free controls.Review Manager version 5.1 was used to perform the meta-analysis.The pooled odds ratios(ORs) and 95% confidence intervals(CIs) were estimated under the allele contrast, homozygous, heterozygous, dominant and recessive genetic models.We also conducted subgroup analyses stratified by ethnicity and cancer type.Publication bias was evaluated using Begg's test.RESULTS:The meta-analysis showed a significant association between APE1 Asp148Glu polymorphism and GI cancer risk in three genetic models in the overall population(G vs T:OR=1.18;95%CI:1.05-1.32;TG vs TT:OR=1.28;95%CI:1.08-1.52;TG+GG vs TT:OR=1.32;95%CI:1.10-1.57).Stratified analysis by ethnicity revealed a statistically increased GI cancer risk in Asians(G vs T:OR=1.27;95%CI:1.07-1.51;GG vs TT:OR=1.58;95%CI:1.05-2.38;TG vs TT:OR=1.30;95%CI,1.01-1.67;and TG+GG vs TT:OR=1.38;95%CI:1.07-1.78),but not in Caucasians.Furthersubgroup analysis by cancer type indicated that APE1Asp148Glu polymorphism may contribute to gastric cancer risk.However,Asp148Glu has no significant association with colorectal or esophageal cancer risk in any genetic model.CONCLUSION:This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is associated with an increased GI cancer risk,especially in gastric cancer.     

HHIP基因rs13118928单核苷酸多态性与慢性阻塞性肺疾病易感性的荟萃分析

目的探讨Hedgehog相互作用蛋白(HHIP)基因rs13118928位点单核苷酸多态性与慢性阻塞性肺疾病(COPD)易感性的关联。 方法系统检索PubMed、EMBASE、Web of Science、中国知网和万方五个电子数据库。检索时间为建库到2018年1月5日,根据制定的纳入标准筛选出相关研究文章,提取数据后利用RevMan5.3软件进行统计分析,计算出各种遗传模型下的比值比(OR)和95%的可信区间(95%CI)。 结果本项研究共纳入7篇文献,包括5 157个COPD患者和9 768个健康对照者。荟萃分析结果显示HHIP基因rs13118928多态性在五种遗传模型下均与COPD有显著相关性：A vs. G,OR＝1.14,95%CI,1.08～1.20,P<0.001;AA vs. GG,OR＝1.36,95%CI,1.20～1.55,P<0.001;AG vs. GG,OR＝1.27,95%CI,1.03～1.58,P＝0.030;AA+AG vs. GG,OR＝1.31,95%CI,1.10～1.57,P＝0.003;AA vs. AG+GG,OR＝1.12,95%CI,1.04～1.21,P＝0.002。亚组分析结果显示在亚洲人种和高加索人种中,rs13118928多态性在A vs. G和AA vs. GG遗传模型下与COPD的发生有显著相关性。 结论HHIP基因rs13118928单核苷酸多态性与COPD的发生有显著相关性。A等位基因和AA基因型携带者对COPD有较高的易感性。     

白细胞介素-1β基因多态性与慢性阻塞性肺疾病易感性的系统评价

目的通过Meta分析探讨IL-1β基因多态性与慢性阻塞性肺疾病（COPD）易感性的关系。方法计算机及手工检索1980年1月至2013年1月发表的关于IL-1β基因多态性和COPD易感性关系的文献资料。根据纳入及排除标准筛选文献并提取数据。Meta分析采用RevMan5．0．25和Stata11．0软件进行。合并效应采用比值比（OR）和95％可信区间（95％CI）进行评价。发表偏倚通过漏斗图直观判断和Egger回归法、Begg秩相关法定量检测。敏感性分析为剔除不符合H—W平衡的文献后重新进行Meta分析。5篇文献（6项研究）被纳入Meta分析,共有749例COPD患者及923例对照纳入研究。结果Meta分析结果表明,IL-1β-511C／T基因多态性与COPD易感性无关联（TvsC：OR=0．97,95％CI=0．76～1．24：TTvsCC：OR：0．93,95％CI=0．55—1．59;CT＋TYvsCC：OR=1．25,95％CI=0．98～1．58;TTvsCT＋CC：OR=0．82,95％CI：0．64—1．05）,IL-1β-31T／C基因多态性与COPD易感性亦无明显联系（CUST：OR=0．99,95％CI=0．86～1．15;CCvsTF：OR=0．99,95％CI=0．72～1．35;CT＋TTvsCC：OR=1．21．95％CI=0．94—1．55;TTvsCT＋CC：OR=0．80,95％CI=0．63～1．03）。结论IL-1β-511C／T、-31T／C基因多态性与COPD易感性无关。     

G蛋白β3亚单位基因825C/T多态性与中国人群原发性高血压相关性的Meta分析

目的系统评价G蛋白β3亚单位(GNB3)基因825C/T多态性与中国人群原发性高血压(EH)发病风险的关系。方法由两名评价者独立检索PubMed、EMbase、CNKI、CBM和WanFang数据库,收集探讨GNB3基因825C/T多态性与中国人EH相关性的病例-对照研究,检索时限均为建库至2013年9月30日。文献筛选及资料提取后,对纳入文献按NOS进行质量评价,然后采用Stata12.0软件行Meta分析。结果最终纳入30个病例-对照研究,包括EH患者5054例,对照人群5565例。Meta分析结果显示,与对照组相比,GNB3基因825C/T多态性与中国人EH发病风险间无统计学差异[TT vs.CC:(OR=1.13,95%CI:0.89~1.43,P=0.33);TT vs.CT+CC:(OR=1.04,95%CI:0.86~1.26,P=0.70);CT vs.CC:(OR=1.08,95%CI:0.98~1.19,P=0.11);TT+CT vs.CC:(OR=1.11,95%CI:0.96~1.29,P=0.15);T vs.C:(OR=1.06,95%CI:0.95~1.20,P=0.30)]。结论当前证据表明中国人群GNB3基因825C/T多态性与EH发病无关。     

Association of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) C1858T gene polymorphism with susceptibility to autoimmune thyroid diseases: a meta-analysis

Results from studies on the association of PTPN22 C1858T polymorphism with AITD risk are conflicting, we thereby perform this meta-analysis to derive a more precise effect on this possible association. Two investigators independently searched the PubMed, Embase, Wanfang and CNKI (China National Knowledge Infrastructure) databases. A total of 11 studies with 3764 AITDs cases and 3328 controls were finally identified. Statistically significant association was observed between PTPN22 C1858T polymorphism and AITD risk based on all studies (TT vs. CC, OR=2.18, 95%CI=1.31?3.62; TC vs. CC, OR=1.50, 95%CI=1.29?1.73; TT/TC vs. CC, OR=1.41, 95%CI=1.12?1.78; TT vs. TC/CC, OR=2.00, 95%CI=1.21?3.33). The results of subgroup analysis showed that: (1) regarding ethnic diversity, the variant genotypes TT/TC of C1858T were associated with a significantly increased AITD risk in Caucasians (TT/TC vs. CC, OR=1.41, 95%CI=1.09?1.83) (2) regarding different countries, the statistically significantly association was observed in UK (TC vs. CC, OR=1.64, 95%CI=1.36?1.98; TT/TC vs. CC, OR=1.65, 95%CI=1.37?1.98) and other countries (including South Tunisia, Russia, Polish, Japanese) (TT vs. CC, OR=3.65, 95%CI=1.43?9.33; TT vs. TC/CC, OR=3.41, 95%CI=1.34?8.65). (3) regarding the subtypes of AITDs, patients with Graves' disease (GD) had a significant higher degree of C1858T polymorphism (TT vs. CC, OR=2.35, 95%CI=1.36?4.05; TC vs. CC, OR=1.46, 95%CI=1.12?1.89; TT/TC vs. CC, OR=1.54, 95%CI=1.33?1.80; TT vs. TC/CC, OR=2.16, 95%CI=1.25?3.72), while no association was observed in patients with Hashimoto's thyroiditis (HT). No publication bias was observed. Our results demonstrated that PTPN22 C1858T polymorphism was associated with AITD risk, especially in Caucasians.     

内皮型一氧化氮合酶基因G894T多态性与心肌梗死相关性的Meta分析

目的 采用Meta分析的方法评估内皮型一氧化氮合酶（eNOS）基因G894T多态性与心肌梗死（MI）相关性.方法 按照文献纳入标准制定检索策略后,采用计算机检索PubMed、中国期刊全文数据库和万方数据库中1995年至2012年12月30日间发表的探讨eNOS基因G894T多态性与MI相关性的病例-对照研究,由两名作者独立提取数据及评价方法学质量后,采用RevMan 5.1软件进行Meta分析.结果 最终纳入13个病例-对照研究,共计2264例MI患者,2774例健康对照人群.基于随机效应模型的Meta分析结果显示,eNOS G894T多态性能够显著增加MI的患病风险[T vs.G：OR=1.51,95%CI：1.21～1.89;TT vs.GG：OR=1.99,95%CI：1.21～3.26;GT vs.GG：OR=1.34,95%CI：1.07～1.68;（GT＋TT） vs.GG：OR=1.47,95%CI：1.14～1.88;TT vs.（GG＋GT）：OR=1.80,95%CI：1.13～2.86].亚组分析结果表明这一相关性存在于亚洲人群与急性心肌梗死（AMI）之间,而与非亚洲人群无相关性,与混合MI（AMI和陈旧性MI）间可能存在相关性,漏斗图提示有发表偏倚存在.结论 基于当前的证据,eNOS G894T多态性与MI存在相关性,特别是亚洲人群与AMI.但当前证据尚不能确定eNOS G894T多态性是否是MI的独立危险因素,以及eNOS G894T多态性与陈旧性MI、与非亚洲人群AMI的相关性.     

The PSCA polymorphisms derived from genome-wide association study are associated with risk of gastric cancer: a meta-analysis

Purpose

Prostate stem cell antigen (PSCA) is a glycosylphosphatidylinositol-anchored 123-aa protein related to the cell-proliferation inhibition and/or cell-death induction activity. Many studies had reported the role of PSCA rs2294008 C?>?T and rs2976392 G?>?A polymorphisms on gastric cancer risk.

Methods

To investigate a more precise estimation of the relationships, we performed a meta-analysis on 9 case–control studies included 10,746 cases and 9,158 controls. Odds ratios (ORs) and 95?% confidence intervals (CIs) were used to assess the strength of the association.

Results

For PSCA rs2294008 C?>?T polymorphism, there was a significantly increased risk of gastric cancer in all genetic models (TT/TC vs. CC: OR?=?1.61, 95?% CI?=?1.35–1.91; TT vs. TC/CC: OR?=?1.33, 95?% CI?=?1.24–1.42). Similar results were also observed for PSCA rs2976392 G?>?A polymorphism (AA/AG vs. GG: OR?=?1.69, 95?% CI?=?1.24–2.31; AA vs. AG/GG: OR?=?1.36, 95?% CI?=?1.24–1.50). In the stratified analysis by ethnicity of rs2294008, an increased gastric cancer risk was found in both Asians (TT vs. TC/CC: OR?=?1.31, 95?% CI?=?1.22–1.42) and Europeans (TT/TC vs. CC: OR?=?1.42, 95?% CI?=?1.18–1.71). Furthermore, when stratified by clinicopathologic characteristics of tumor location and histology, a higher risk on non-cardia compared with cardia gastric cancer (TT vs. TC/CC: OR?=?1.43, 95?% CI?=?1.12–1.83) as same as diffused compared with intestinal gastric cancer (TT vs. TC/CC: OR?=?1.29, 95?% CI?=?1.13–1.49) was observed.

Conclusion

These findings supported that PSCA rs2294008 C?>?T and rs2976392 G?>?A polymorphisms may contribute to the susceptibility to gastric cancer, particular in non-cardia or diffused gastric cancer.     

恩施土家族人群eNOS rs1799983基因多态性和肥胖在原发性高血压中的交互作用

目的 探讨恩施土家族人群内皮型一氧化氮合酶(eNOS)rs1799983多态性与原发性高血压(EH)关联性及其与肥胖交互作用。方法 采用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析127例EH患者和127名正常对照eNOS rs1799983基因型。非条件Logistic分析各基因型与发病中易感性关系以及与肥胖的交互作用。结果 携带C(CC/CT)基因个体患病风险较非C基因携带者(TT)风险明显增加1.35倍(OR=1.35,95%CI: 1.22,2.56,P<0.01;校正OR=1.61,95%CI: 1.21,3.01,P<0.01);非条件Logistic分析表明携带CC/CT基因型肥胖个体EH罹患风险是携带TT基因非肥胖个体的3.39倍(OR=3.39,95%CI:2.66,5.36,P=0.000)(RERI=1.94,95%CI:1.41,2.77;API=0.59,95%CI:0.33,0.84;S=1.46,95%CI:1.37,2.66)。结论 eNOS rs1799983多态性增加恩施土家族个体原发性高血压罹患风险,且与肥胖存在原发性高血压发病中存在协同效应。     

TGF-β1 +869T/C (rs1982073) gene polymorphism and susceptibility to rheumatoid arthritis: Updated systematic review and meta-analysis

Rheumatoid arthritis (RA) is a complex autoimmune disease that affects about 1% of the world's population. The conclusions about the relationship between TGF gene polymorphism and the risk of RA are still inconsistent. Therefore, we performed a meta-analysis to re-evaluate the relationship between TGF-β1 T869C gene polymorphism and the risk of rheumatoid arthritis.Method: We performed a systematic electronic search in PubMed, Embase, Elsevier, Web of Science, Cochrane Library, Medline and China National Knowledge Infrastructure database (up to August 2020). In the subgroup analysis, we divide the research into three groups: Asian, European and Mediterranean, The combined OR and 95%CI of the five models (allele model, homozygous model, heterozygous model, dominant model, recessive model) were calculated, respectively.Results: 15 case-control studies (14 articles) were involved in this meta-analysis, including 2103 cases and 2143 healthy controls. In the overall analysis, it showed that there may be an significant association between TGF-β1+869T/C polymorphism and RA sensitivity (allele model, T vs. C: OR=1.444, 95% CI=1.171-1.782, P=0.001; homozygous model, TT vs. CC: OR=1.910, 95% CI=1.322-2.761, P=0.001; heterozygous model, CT vs. CC: OR=1.558, 95% CI=1.179-2.059,P=0.002; dominant model, TT+CT vs. CC: OR= 1.742, 95% CI=1.303-2.329, P=0.001; recessive model, TT vs. CT+CC: OR=1.400, 95% CI= 1.058-1.852, P=0.018).However, the results of ethnic subgroup analysis indicated that rs1982073 was not associated with RA risk in Europeans(allele model, T vs. C: OR=0.993, 95% CI=0.849-1.162, P=0.931, I² <0.1%, P>0.1).Conclusion: In summary, our meta-analysis showed that the rs1982073 T allele does not increase RA susceptibility in Europeans.