PTPN22 1858C/T基因多态性与肺结核易感性关系的Meta分析

目的 探讨蛋白酪氨酸磷酸酶非受体型22(protein tyrosine phos-phatase nonreceptor 22,PTPN22)1858C/T基因多态性与肺结核(TB)易感性的关联。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2023年3月1日,收集关于PTPN22 1858C/T基因多态性与肺结核易感性的病例-对照研究,初步筛查出10篇文献。按照纳入和排除标准,由两名评价者分别对相关文献进行选择,以及资料进行提取和进行质量评价,采用RevMan 5.1和Statal 2.0软件进行Meta分析。结果 5个病例-对照研究最终被纳入,其中病例组851例,对照组976例。在本研究的3种遗传模型中,纳入的结果同质性均较好。Meta分析结果在各遗传模型中显示,PTPN22 1858C/T基因多态性与肺结核易感性的关联有统计学意义(显性遗传模型：CT+TT vs CC:OR=0.39,95%CI 0.23～0.67;共显性遗传模型：CT vs CC:OR=0.39,95%CI 0.23～0.67;T vs C:OR=0....     

PTGER4 基因多态性与炎症性肠病易感性的Meta 分析

目的:系统评价人群中PTGER4 基因多态性与炎症性肠病(Inflammatory bowel disease,IBD)的关系。方法:检索PubMed、Embase、Web of Science 中2016 年2 月29 日以前发表的相关病例对照研究文献,选择符合质量要求的研究。用STATA12.0 软件进行Meta 分析,计算合并OR 值及其95% 可信区间(Confidence interval,CI),并通过敏感性分析判断结果的稳定性,通过Egger忆s 检验分析发表偏倚。结果:共纳入20 篇文献中发表的44 项病例对照研究,包括25 179 例克罗恩病(Crohn‘s disease,CD) 病例、5 261 例溃疡性结肠炎(Ulcerative colitis,UC) 病例和44 652 名对照。Meta 分析结果表明, rs4613763T/ C 多态性与CD 关系的等位基因频率、共显性模型、显性模型、隐性模型分析的合并OR 值(95% CI)分别是1.24(1.06 ~1.45)、1.32(1.06 ~1.64)、1.25(1.06 ~1.48)和1.28(1.03 ~1.59);rs17234657T/ G 多态性与CD 关系四种模型分析合并OR 值(95%CI) 为:1.43(1.34 ~1.52)、2.12(1.70 ~2.63)、1.46(1.36 ~1.57)和1.93(1.56 ~2.40);rs4495224A/ C 多态性与CD 关系的四种模型分析合并OR 值(95% CI) 为:1.05(0.79 ~ 1.41)、1.08(0.62 ~ 1.88)、1.12(0.75 ~ 1.65)和1.00(0.67 ~1.49);rs9292777G/ T 多态性与CD 关系的四种模型分析合并OR 值(95% CI)为:0.77(0.67 ~ 0.88)、0.59(0.51 ~0.69)、0.73(0.61 ~0.87)和0.68(0.59 ~ 0.79);rs1373692T/ G 多态性与CD 关系的四种模型分析合并OR 值(95% CI)为:1.23(0.96 ~1.57)、1.39(0.74 ~2.59)、1.26(0.74 ~2.13)和1.31(1.00 ~1.72)。rs4613763T/ C 多态性与UC 易感性分析的四种模型分析合并OR 值(95%CI)为:1.30(1.17 ~ 1.44)、1.73(1.16 ~ 2.59)、1.32(1.17 ~ 1.48)和1.64(1.10 ~ 2.45)。结论:rs17234657T/ G、rs4613763T/ C 和rs9292777G/ T 多态性与CD 易感性相关;rs4613763T/ C 多态性与UC 的易感性相关。     

雌激素受体α基因rs2234693位点多态性与前列腺癌易感性的meta分析

目的:探讨雌激素受体α(ESRα)基因rs2234693位点多态性与前列腺癌易感性的关系。方法:通过计算机检索Pub Med、CNKI和万方数据库,根据纳入与排除标准筛选相关的病例对照研究,检索时限至2014年4月。在提取有效资料后,应用Stata 10.1分析软件对各项研究进行异质性检验,在随机效应模型下计算合并优势比及其95%可信区间。结果:该Meta分析共纳入20项研究,累计前列腺癌组4 623例,对照组9 850例。ESRαrs2234693位点多态性在总体人群中与前列腺癌易感性明显相关(P0.05),通过种族的亚组分析发现ESRαrs2234693位点多态性与前列腺癌易感性在欧洲人群中具有相关性(P0.05),然而在亚洲和非洲人群中无明显关联性(均P0.05)。结论:ESRα基因rs2234693位点态性与前列腺癌易感性相关,即rs2234693的CC基因型可增加人群患前列腺癌的风险,尤其是欧洲人群。     

强直性脊柱炎与IL-23R基因多态性关联的Meta分析

探讨IL-23R基因多态性与中国人群强直性脊柱炎的相关性。系统检索PubMed、FMJS、CNKI及万方数据库有关IL-23R基因多态性与强直性脊柱炎相关的病例对照研究,应用ReveMan 5.2软件进行Meta分析。本研究共纳入IL-23R基因多态性与强直性脊柱炎相关文献9篇。Meta分析结果显示:IL-23Rrs1004819(OR=1.02,95%CI:0.90~1.14)、rs11209032(OR=0.91,95%CI:0.74~1.11)、rs1343151(OR=0.80,95%CI:0.59~1.08)和rs10889677(OR=0.95,95%CI:0.83~1.09)与强直性脊柱炎无显著关联,rs10489629(OR=0.78,95%CI:0.64~0.95)是强直性脊柱炎的保护性因素。可见部分IL-23R基因多态性与中国人群AS易感性无关联,需要进一步探索与中国人群AS易感性相关的其他基因位点。     

中国人群脂联素基因+45T/G多态性与冠心病相关性的Meta分析

目的:对中国人apMl基因+45T/G多态性与冠心病相关性的研究进行Meta分析。方法:通过文献检索收集2009年12月以前完成或发表的中国人apMl基因+45T/G多态性与CHD相关性的病例对照研究,剔除不符合要求的文献。采用ReviewManager4.2软件进行Meta分析,根据各入选文献的同质性检验结果进行数据合并,计算总OR值。绘制漏斗图和Egger’s回归分析检验发表偏倚,并通过改变样本含量进行敏感性分析。结果:共纳入符合条件的8组研究,包括CHD患者1929例,对照1641例;Meta分析结果显示中国人apMl基因+45T/G多态性与CHD易感性无明显相关性(P0.05);发表偏倚和敏感性分析显示本次Meta分析结果稳定可靠。结论:尚无足够证据表明中国人apMl基因+45T/G多态性与CHD易感性相关。     

HLA-DP基因多态性与中国人群慢性乙型肝炎病毒感染和肝细胞癌相关性的Meta分析

综合评价HLA-DP基因多态性与中国人群慢性乙型肝炎病毒感染和肝细胞癌的相关性。系统检索PubMed、FMJS、CNKI及万方数据库有关HLA-DP基因多态性与慢性乙型肝炎病毒感染和肝细胞癌相关性的病例对照研究,按纳入标准选择文献并提取相关信息,应用Stata 12.0软件进行Meta分析。本研究共纳入HLA-DP基因多态性与HBV易感性相关文献10篇,其中与肝细胞癌相关文献3篇。Meta分析结果显示,rs3077A、rs9277535A在显性模型下不仅与HBV感染负相关(rs3077:OR=0.57,95%CI:0.53~0.63;rs9277535:OR=0.56,95%CI:0.51~0.61),还可促进HBV感染后清除(rs3077:OR=0.60,95%CI:0.52~0.68;rs9277535:OR=0.59,95%CI:0.54~0.64),其中rs3077A在显性模型下还可降低患肝细胞癌的风险(OR=0.83,95%CI:0.74~0.93)。     

XPF基因多态性与膀胱癌发病风险的关联分析

目的 探讨XPF基因的3个多态性位点(rs28360317、rs1805377、rs2836007)的基因型与膀胱癌及其病理参数的相关性.方法 采用病例对照研究,使用Taqman检测技术对270例膀胱癌患者和270名正常对照的3个多态性位点的基因型分布进行分析.采用logistic回归模型分析各基因型与膀胱癌的发生及其病理参数的关系.结果 XPF基因的3个多态性位点在病例及对照组中分布差异均没有统计学意义(P＞0.05).rs2836007的CT基因型(CT vs.CC:OR =2.30,95％CI:1.33 ～3.99)、TT基因型(TT vs.CC:OR=3.50,95％ CI:1.14～ 10.77)在高分化膀胱癌组与正常对照组中的分布频率差异有统计学意义(P＜0.05).但rs2836007位点各基因型在肿瘤分期、周围淋巴结转移、远端淋巴结转移、低分化组、中分化组中的分布频率与对照组相比差异均无统计学意义(P＞0.05).rs28360317和rs1805377位点与膀胱癌病理参数无显著相关性(P＞0.05).结论 本研究发现XPF基因的rs28360317、rs1805377、rs2836007位点与膀胱癌的发病不相关,rs2836007与高分化膀胱癌相关.     

IL-17F 基因多态性与类风湿关节炎发病风险关系的Meta 分析

目的:探讨白介素17F(IL-17F)基因多态性rs763780 和rs2397084 与类风湿关节炎(RA)易感性的关系。方法:计算机检索中国学术期刊全文数据库、万方数据库、中国生物医学文献数据库、Pubmed、Embase 以及Web of Science 中已发表的与RA 和IL-17F 基因多态性相关文献,进行Meta 分析。结果:纳入的5 项研究共收集RA 患者1 174 例(其中rs763780 含1 174 例,rs2397084 含985 例),正常对照966 例(rs763780 含966 例,rs2397084 含766 例)。Meta 分析结果显示,rs763780 与RA 密切相关(C vs.T:OR=1.74,95%CI =1.01-2.98,P =0.04;CC vs.TT:OR=3.17,95% CI =1.21-8.35,P =0.02;CT vs.TT:OR=1.80,95%CI =1.21-2.66,P =0.004;CC+CT vs.TT:OR=1.96,95% CI =1.35-2.83,P<0.001;CC vs.CT+ TT:OR=2.97,95%CI =1.13-2.66,P =0.03)。根据人种进行亚组分析发现,在欧洲人群中rs763780 与RA 密切相关,差异具有统计学意义。未发现rs2397084 与RA 之间的相关性。结论:IL-17F rs763780 是RA 的危险因素,IL-17F rs2397084 与RA 易感性是否有关仍不明确。     

FAS-670A/G多态性与宫颈癌易感性的Meta分析

目的探讨FAS-670A/G多态性与宫颈癌易感性之间的关系。方法全面检索相关文献,收集2012年1月前有关FAS-670A/G多态性与宫颈癌易感性的病例对照研究,使用Stata 10.0进行Meta分析。结果最终纳入病例对照研究10项,累计病例2174例,对照2514例。在显性模型、隐性模型、加性模型中,Meta分析的OR值及95%CI分别为1.08（0.83-1.41）、0.99（0.76-1.30）、1.03（0.91-1.17）,且按种族所进行的分层分析中各OR值均未达到显著性水平。结论 FAS-670A/G多态性与宫颈癌易感性之间无显著关联。     

ADAM33基因遗传多态性与支气管哮喘易感性关系的Meta分析

目的:综合评价解整合素金属蛋白酶33 (ADAM33)基因Met764Thr和Pro774Ser位点多态性与哮喘易感性的关系.方法:按照统一的检索策略,检索Pubmed、Ovid-Medline、CNKI及维普数据库中有关ADAM33基因多态性与哮喘易感性关系的病例-对照研究,按照纳入和排除标准选择文献提取相关信息,应用Review Manager 5.0软件进行Meta分析.结果:本研究纳入国内外14篇合格文献,其中Met764Thr位点12篇,共3 418例哮喘病例和3 520例对照;Pro774Ser位点8篇,共2 793例哮喘病例和3 207例对照.Meta分析结果显示,携带764位点Met/Thr或Thr/Thr突变基因型患哮喘的危险性是野生型的1.56倍(OR=1.56,95％CI=1.09～2.22),Pro774Ser位点突变基因型也与哮喘危险性升高有关(OR=1.39,95％CI=1.00～ 1.93).将人群分层后,该两个位点多态性与哮喘的关联均仅见于中国人群(764位点:OR=2.73,95％CI=1.79 ～4.17,774位点:OR =2.32,95％CI=1.30 ～4.15).结论:ADAM33基因764和774位点的突变与哮喘的易感性升高有关.     

Association of Polymorphism rs1045411 in the HMGB1 Gene with Cancer Risk: Evidence from a Meta-analysis

The high-mobility group box protein 1 (HMGB1) rs1045411 polymorphism has been demonstrated to be associated with cancer risk in some studies. However, the results regarding this topic are inconsistent. A meta-analysis was applied to elucidate the association between the HMGB1 rs1045411 polymorphism and cancer risk. Ten relevant studies were subjected to our analysis, and pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. In total, of 3,918 cases and 5,296 controls were included in this study. The pooled ORs were calculated using a random-effects or fixed-effects model according to the heterogeneity. The pooled results revealed that TT genotype was significantly related to increased cancer risk in the comparisons of TT vs. CC+TC (OR=1.35; 95% CI: 1.09-1.67; p=0.005). Though no statistical significance was achieved between HMGB1 rs1045411 polymorphism and cancer risk in other four genetic models (T vs. C: OR=1.08, 95% CI 0.90-1.30; TC vs. CC: OR=1.01, 95% CI 0.82-1.24; CC vs. TC+TT: OR=0.95, 95% CI 0.77-1.18; TT vs. CC: OR=1.42; 95% CI 0.98-2.05), a trend of increased risk could be drawn. In the subgroup analysis by type of malignancy and ethnicity, no obvious difference was found in the tumour risk regarding the HMGB1 rs1045411 polymorphism amongst the cancer types except for breast cancer (OR=1.94; 95% CI: 1.05-3.59; p=0.03) and hepatocellular carcinoma (OR=1.82; 95% CI: 1.15-2.88; p=0.01), while rs1045411 polymorphism was positively associated with risks of cancer amongst Hans (OR=1.37; 95% CI: 1.11-1.69; p=0.004) rather than Caucasians (OR=0.89; 95% CI: 0.26-3.02; p=0.01). These results suggest that the HMGB1 rs1045411 polymorphism might be associated with increased cancer risk.     

Transforming Growth Factor β1-509C/T and +869T/C Polymorphisms on the Risk of Upper Digestive Tract Cancer: A Meta-Analysis Based on 10,917 Participants

The aim of this study was to assess the relationships between transforming growth factor β1-509C/T (rs1800469) and +869T/C (rs1800470) polymorphisms and the risk of upper digestive tract cancer (UDT cancer) by using a meta-analysis. We interrogated the databases of Medline, Embase and Wanfang (Chinese literature database) (latest update; December 15, 2011). Odds ratios (OR) and corresponding 95% confidence intervals (95% CI) were used to assess the strength of the associations. In total, 20 case-control studies were included in this meta-analysis. Overall, both TGF β1-509C/T and +869T/C polymorphisms were not associated with risk of UDT cancer [-509C/T: OR (95%CI) = 1.10 (0.99-1.22) for TT vs. C carries, P(heterogeneity) = 0.10; +869T/C: OR (95%CI) = 1.04 (0.88-1.23) for CC vs. T carriers, P(heterogeneity) = 0.02]. Subgroup analyses indicated that the -509T allele was associated with increased risk of UDT cancer in population-based studies (OR = 1.16 (1.04-1.31), P(heterogeneity) = 0.31 for TT vs. C carriers) and in small sample-sized studies (OR = 1.45 (1.15-1.84), P(heterogeneity) = 0.56 TT vs. C carriers). All subgroup analyses for the TGF β1+869T/C polymorphism indicated null association except for hepatocellular carcinoma. Interestingly, both the TGF β1-509T allele and the +869C allele were associated with decreased risk of hepatocellular cancer based on limited original studies. This meta-analysis indicated that TGF β1-509C/T rather than +869T/C is a potential risk factor for UDT cancer.     

Pooled analyses of the associations of polymorphisms in the GRK4 and EMILIN1 genes with hypertension risk

Background: The GRK4 and EMILIN1 genes have been suggested to be involved in the development of hypertension. However, the results have been inconsistent. In this study, a meta-analysis was performed to clarify the associations of polymorphisms in the GRK4 and EMILIN1 genes with hypertension risk.Methods: Published literature from PubMed and Embase databases were retrieved. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using fixed- or random-effects model.Results: Five studies for polymorphisms in the GRK4 gene and five studies for polymorphisms in the EMILIN1 gene were identified. The results suggested that rs1801058 polymorphism in the GRK4 gene was inversely associated with hypertension among East Asians (TT vs. CC: OR=0.39, 95%CI 0.28-0.55) and positively associated with hypertension among Europeans (TT vs. CC: OR= 2.38, 95%CI 1.38-4.10). Rs2960306 polymorphism in the GRK4 gene was significantly associated with hypertension among Europeans (TT vs. GG: OR=1.92, 95%CI 1.13-3.27). The significant associations were also observed for rs2011616 and rs2304682 polymorphisms in the EMILIN1 gene among Japanese (rs2011616: AA vs. GG: OR=0.38, 95%CI 0.18-0.82; rs2304682: GG vs. CC: OR=0.37, 95%CI 0.17-0.81) but not among Chinese.Conclusions: This meta-analysis suggested that rs1801058 polymorphism in the GRK4 gene was associated with hypertension in East Asians and Europeans. The significant association was also found for rs2960306 polymorphism in the GRK4 gene among Europeans. In addition, there were significant associations of rs2011616 and rs2304682 polymorphisms in the EMILIN1gene with hypertension among Japanese.     

Potential Positive Association between Cytochrome P450 1A1 Gene Polymorphisms and Recurrent Pregnancy Loss: a Meta‐Analysis

In order to discover the potential genetic risks associated with recurrent pregnancy loss (RPL), this meta‐analysis was conducted to assess the association between CYP1A1 gene polymorphism and RPL. Studies were retrieved from the databases PubMed, Embase, HuGENet, and CNKI. Four models were then applied. Seven studies, including three datasets for the rs1048943 and five for the rs4646903 single‐nucleotide polymorphism (SNP), were included in this analysis, involving 613 cases and 398 controls for the rs1048943; and 864 cases and 842 controls for the rs4646903 SNP. After comprehensive analysis, we found that rs4646903 was significantly associated with RPL [recessive (OR = 1.72, 95%CI: 1.13–2.61); codominant (CC vs TT; OR = 1.74, 95%CI: 1.12–2.71), (CC vs CT; OR = 1.67, 95%CI: 1.07–2.62) and allele analysis (OR = 1.27, 95%CI: 1.07–1.50)]. In the following subgroup analysis, a positive association was also discovered among people of Asian descent, especially South Asians. However, there was no obvious association between rs1048943 and RPL. In summary, our results suggest that CYP1A1 gene polymorphism (particularly for rs4646903) might be associated with RPL risk, especially among South Asians. Further studies are required to confirm this association.     

CD14启动子-159位点基因多态性与冠状动脉粥样硬化性心脏病的相关性研究

目的研究湖北地区汉族人群CD14启动予-159（C→T）多态性分布，探讨该多态性与冠状动脉粥样硬化性心脏病（冠心病）的相关性。方法应用聚合酶链反应-限制性片段长度多态性技术对湖北地区汉族162例冠心病患者及196名正常对照组者CD14基因启动子-159位点进行基因型分析。结果CD14启动子-159位点基因型频率和等位基因频率在冠心病组和对照组间比较差异有统计学意义，（基因型：X^2=0．654，P〈0．05，CT vs CC，OR=1．245，95％CI：1．001～1．473，TT vs CC，OR=2．374，95％CI：2．012～2．649；等位基因：X^2=0．547，P〈0．05，TvsC，X^2=0、547，P〈0、05，OR=3．105，95 ％CI：2．493～3．539）：CD14启动子-159位点基因型频率和等位基因频率在非心肌梗塞组和心肌梗塞组间比较差异有统计学意义（基因型：X^2=0．782，P〈0．05，CF vs CC，OR=2．375，95％CI：2．017～2．689，TT vs CC．OR=3．459，95％CI：3．003～3．846；等位基因：X^2=2．374，P〈0．05，T vs C，X^2=2．374，P〈0．05，OR=4．011，95％CI：3．814～4．279），然而，我们没有发现往冠心病狭窄血管支数之间存存差异。结论CD14启动子-159（C→T）基因多态性中的T等位基因可能是心肌梗塞的遗传学风险因素。     

CASP3和 CASP9基因多态性与胃癌遗传易感性的关联研究

目的 探讨凋亡相关基因caspase 3 (CASP3)、caspase 9 (CASP9)单核苷酸多态性与胃癌遗传易感性的关系.方法 采用以自然人群为基础的病例对照研究设计,对278例胃癌患者和以同年龄(± 5岁)、同性别、同居住地匹配为原则获得的278名对照进行研究.CASP3 rs12108497和 CASP9 rs4646018多态位点的基因分型采用聚合酶链反应-限制性片段长度多态性的方法分析.非条件Logistic回归分析计算基因多态与胃癌风险的相关性.结果 携带 CASP3 rs12108497 TC、CC基因型者患胃癌的风险较TT基因型者分别增加45%(OR=1.45,95%CI:1.01～2.07)和117% (OR=2.17,95%CI:1.15～4.08).未发现 CASP9 rs4646018基因多态与胃癌发病风险间存在显著关联.多基因模型显示携带1个或2个风险基因型的个体胃癌易感性增高(OR=1.60,95%CI:1.12～2.30).分层分析表明,携带1个或2个风险基因型的个体罹患胃癌的危险度在男性个体(OR=1.62,95%CI:1.05～2.49)、吸烟者(OR=1.87,95%CI:1.12～3.12)、饮酒者(OR=1.92,95%CI:1.02～3.65)和无肿瘤家族史者(OR=1.78,95%CI:1.18～2.68)中尤为明显.结论 CASP3 rs12108497 多态性会增加胃癌的发病风险.CASP9 rs4646018多态性与胃癌发病风险无关.

Abstract：

Objective To investigate the association between the apoptosis genes CASP3 (rs12108497) and CASP9 (rs4646018) polymorphisms and the risk of developing stomach cancer. Methods In this population-based case-control study, 278 cases with stomach cancer and 278 age (±5 years), gender, and residential area matched controls were recruited. The genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The unconditional Logistic regression analysis was utilized to calculate the odds ratios (OR) and 95% confidence intervals (CI). Results The individuals with TC, CC genotypes of rs12108497 locus had significantly increased risk of stomach cancer in comparison to those carrying TT genotype (OR=1.45, 95% CI: 1.01-2.07 for TC; OR=2.17, 95%CI: 1.15-4.08 for CC). However, the rs4646018 locus of CASP9 gene polymorphism was not related to stomach cancer risk. Compared with the subjects carrying the both low-risk genotypes, those carrying 1 or 2 high-risk genotypes had a noteworthy increased risk of stomach cancer (OR=1.60, 95% CI: 1.12-2.30). The combined high-risk genotypes appeared to be more evident in subjects of male (OR=1.62, 95% CI: 1.05-2.49), ever-smokers (OR=1.87, 95%CI: 1.12-3.12), ever-drinkers (OR=1.92, 95%CI:1.02-3.65) and no family history of cancer (OR=1.78, 95%CI: 1.18-2.68). Conclusion The current findings suggest that the polymorphism of CASP3 rs12108497 might be associated with the risk of stomach cancer. However, the CASP9 rs4646018 polymorphism may not be related to the stomach cancer risk.     

RET基因调控区遗传变异与先天性巨结肠患病风险研究

目的先天性巨结肠（HSCR）是一种复杂的先天性疾病,RET是其主要的易感性基因。本研究对RET非编码区单核甘酸多态性（SNP）-5G〉A（rs10900296）,-1A〉C（rs10900297）和intron1 C〉T（rs2435357）进行分型分析,评估RET基因调控区SNPs及单倍型与先天性巨结肠之间的相关性。方法选取115名病例组病人和139名对照组正常人群,应用聚合酶链反应（PCR）技术和直接测序的方法进行基因分型。回归模型中使用OR值和95%置信区间（CI）作为基因型危险性的评价指标。结果 -5G〉A,-1A〉C,intron1C〉T各基因型频率在病例和对照人群的分布具有显著差异。-5 AA（OR=6.26,95%CI=3.62-10.83）,-1 CC（OR=7.54,95%CI=2.06-27.66）和intron1 TT（OR=19.22,95% CI=7.54-48.99）基因型均能显著增加HSCR发病的风险。单倍型A-C-T（OR=6.28,95% CI=3.77-10.46）和双体型A-C-T/A-C-T（OR=13.62,95% CI=3.48-53.30）分析同样表明与HSCR发病风险存在较强的相关性,并呈现出一定的累积效应。结论 RET基因调控区的基因多态性可能与HSCR的发病易感性有关,支持RET通路的常见变异在HSCR的发展过程中起着重要的作用的假设。     

抗精神病药物引发的体重增加与HTR2C基因-759C/T 多态性关联的Meta分析

目的 探讨抗精神病药物在治疗精神分裂症患者过程中出现的体重增加与5羟色胺2C受体（HTR2C）基因启动子区-759C/ T（rs3813929）单核苷酸多态性的关系。方法 在Pubmed、 Springer、China biology medicine disc（CBM）、谷歌学术、万方数据库等检索1990~2017年精神分裂症患者中有关HTR2C-759C/T 基因多态性与抗精神病药物诱导的体重增加关联性研究的文献,对-759C/T 位点（CT+TT）/CC,（CT+CC）/TT基因型进行Meta分析。用RevMan version 5.3计算OR值及95%可信区间,并按人种因素作亚组分析。结果 共有20篇文献符合纳入标准,经Meta分析发现HTR2C-759T与抗精神病药物引发的体重增加呈显著负相关[（CT+TT）/ CC OR=0.42,95%CI（0.26~0.66）,P=0.0002]。亚组分析中,高加索人群和东亚人群含HTR2C-759T患者的体重增加占比人数显著低于CC基因型患者（高加索人群OR=0.48,95%CI（0.26~0.88）,P=0.020,东亚人群OR=0.34,95%CI（0.17~0.69）,P=0.002）。HTR2C-759C 与抗精神病药物引发的体重增加有正相关趋势[（CT+CC）/TT OR=2.29,95% CI（1.00~5.23）,P=0.05]。亚组分析中高加索人群[OR=2.58,95% CI（0.61~10.94）,P=0.200]和东亚人群（OR=2.13,95%CI（0.78~5.86）,P=0.14）结论一致,差异无统计学意义（P＞0.05）。结论 HTR2C 基因启动子-759C/T单核苷酸多态性与抗精神病药物导致的患者体重增加相关联,携带HTR2C-759T可能是限制体重增加的保护因子。     

NQO1 C609T polymorphism and colorectal cancer susceptibility: a meta-analysis

Introduction

A few studies have reported an association between NADP(H): quinine oxidoreductase 1 (NQO1) C609T polymorphism and susceptibility to colorectal cancer (CRC). However, the results were inconsistent rather than conclusive. We performed a meta-analysis to examine this association in various populations.

Material and methods

Eligible articles were identified by a search of several databases up until June 30, 2013. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the strength of the association.

Results

Overall, 14 case-control studies with 4,461 cases and 5,474 controls were included in this meta-analysis. The results indicated that the NQO1 C609T polymorphism was significantly associated with CRC susceptibility (summary ORs (95% CIs): 1.30 (1.07–1.59) for CT vs. CC, 1.64 (1.15–2.33) for TT vs. CC, 1.34 (1.10–1.64) for TT/CT vs. CC, and 1.43 (1.10–1.87) for TT vs. CT/CC). Subgroup analyses indicated that the T allele was significantly associated with CRC susceptibility in both Asians and Caucasians, and was also observed in high quality studies and hospital-based case-control studies. Specifically, we found a positive association between the NQO1 C609T polymorphism and CRC susceptibility in smokers, but not in non-smokers.

Conclusions

The results of this meta-analysis suggest that the NQO1 C609T polymorphism significantly contributes to increased susceptibility to CRC in both Asians and Caucasians.