Screening of controls in cass-control study of infectious diseases

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Association between the SUMO4 M55V Polymorphism and Susceptibility to Type 2 Diabetes Mellitus:A Meta-analysis

Objective The aim of this study is to determine whether theSUMO4 M55V polymorphism is associated with susceptibility to type 2 diabetes mellitus (T2DM). Methods A meta-analysis was performed to detect the potential association of theSUMO4 M55V polymorphism and susceptibility to T2DM under dominant, recessive, co-dominant (homogeneous and heterogeneous), and additive models. Results A total of eight articles including 10 case-control studies,with a total of 2932 cases and 2679 controls, were included in this meta-analysis. The significant association between the SUMO4 M55V polymorphism and susceptibility to T2DM was observed in the dominant model (GG + GA versus AA:OR= 1.21, 95%CI = 1.05-1.40,P= 0.009), recessive model (GG versus GA + AA:OR = 1.29, 95%CI =1.07-1.356,P= 0.010),homozygousmodel (GG versus AA:OR = 1.41, 95%CI = 1.06-1.56,P= 0.001), and additive model (G versus A:OR = 1.18, 95%CI = 1.08-1.29,P= 0.001), and marginally significant in the heterozygous model (GA versus AA:OR = 1.16, 95%CI = 0.98-1.36,P= 0.080). In subgroup analyses, significant associations were observed in the Chinese population under four genetic models excluding theheterozygous model, whereas no statistically significant associations were observed in the Japanese population under each of the five genetic models. Conclusion The meta-analysis demonstrated that the G allele of theSUMO4 M55V polymorphism could be a susceptible risk locus to T2DM, mainly in the Chinese population, while the association in other ethnic population needs to be further validated in studies with relatively large samples.     

基于ORG的rs961253多态性与结直肠癌易感性Meta分析

目的 综合分析全基因组关联性研究识别的rs961253基因多态性与结直肠癌易感性的关系.方法 以广义OR（generalized OR,ORG）及等位基因比较（A/C）的OR为效应指标.结果 最终纳入文献7篇,包含3 3561例结直肠癌病例及35 790名对照.研究间存在异质性,故采用随机效应模型合并效应值.A/C合并OR值为1.13（95％CI=1.09-1.17）;合并ORG值为1.16（95％CI=1.11 ～ 1.21）.Meta同归分析发现异质性主要来源为研究对象的种族和对照来源,经分层后,异质性有效降低,且rs961253仍与结直肠癌关联.敏感性分析表明研究结果稳定 结论 rs961253基因多态性与结直肠癌遗传易感性相关,但背后的生物学机制仍有待研究证实.     

BRM基因多态与食管鳞状细胞癌易感性的关联研究

目的:研究BRM-741位点和BRM-1321位点的插入/缺失多态与中国汉族人群食管鳞状细胞癌(ESCC)易感性的关系。方法:采用病例-对照研究,以聚合酶链反应-聚丙烯酰胺凝胶电泳的方法,分析343例ESCC患者和362名性别、年龄等人口学特征与病例频数匹配的健康对照者的BRM-741以及BRM-1321基因型分布情况。logistic 回归分析BRM基因多态与ESCC易感性的关系。结果:BRM-741多态与ESCC的患病风险无相关性(P>0.05),而BRM-1321多态与ESCC的发生有相关性(P<0.01)。携带BRM-1321插入/插入基因型的个体发生ESCC的风险较携带BRM-1321缺失/缺失基因型者增加了94.0%(OR=1.94,95%CI=1.11~3.38)。与缺失型等位基因比较,插入型等位基因增加了35.0%的ESCC易感性(OR=1.35,95%CI=1.07~1.71)。结论:BRM-1321多态与中国汉族人群ESCC遗传易感性有关,BRM-741基因多态与中国汉族人群ESCC的患病风险无关。     

Megsin基因3个多态性位点与亚洲人群IgA肾病易感性关联的Meta分析

目的 通过Meta分析评估亚洲人群Megsin基因3个多态性位点(rs1055901、rs1055902和rs2689399)与IgA肾病易感性的关联.方法 通过中国知网、维普、万方数据库、中国生物医学文献数据库、PubMed、Web of Science和Google学术数据库数据库,电子检索关于亚洲人群Megsin基因rs1055901、rs1055902和rs2689399多态性位点与IgA肾病相关性的研究,检索年限为1960年1月1日开始至2016年5月2日.采用Stata12.0软件计算合并比值比(OR)和95％置信区间(CI),并进行敏感性及发表偏倚分析.结果 最终纳入6篇文献(含9项研究),包含2 179例IgA肾病患者和1 769例健康对照.Meta分析结果显示,Megsin基因rs1055901、rs1055902多态性位点与亚洲人群IgA肾病易感性无明显关联.然而,Megsin基因rs2689399位点与亚洲人群IgA肾病易感性呈显著负相关(G和C:OR=0.754,95％CI 0.592～0.961,P=0.022;GG和CC:OR=0.506,95％CI0.287～0.892,P=0.019;GG和GC+CC:OR=0.551,95％CI 0.316～0.961,P=0.036).结论 Megsin基因的rs2689399位点的G等位基因、GG基因型可能是亚洲人群IgA肾病的保护因子.     

IL-6基因rs1800796多态性与小儿热性惊厥易感性的Meta分析

目的 系统评价白细胞介素-6(IL-6)基因-572C/G(rs1800796)多态性与小儿热性惊厥易感性的关系.方法 计算机检索PubMed,Web of Science,Embase,Cochrane Library,中国知网(CNKI),万方,维普(VIP)及中国生物医学文献数据库(CBM),收集发表的IL-6基因rs1800796多态性与小儿热性惊厥易感性的相关文献,以OR及其95％CI为合并效应量,采用RevMan 5.2软件进行统计学分析,以STATA12.0软件进行发表偏倚分析.结果 根据纳入及排除标准,本研究共纳入7项独立的病例-对照研究,累计病例516例,对照528例.结果显示IL-6基因-572C/G(rs1800796)多态性与小儿热性惊厥易感性之间具有显著关联(GG+CG vs.CC:OR=2.22,P=0.05;G vs.C:OR=2.44,P<0.01;GG vs.CC:OR=3.69,P=0.03;GG vs.CG+CC:OR=3.43,P<0.01).根据可能的重要的混杂因素进行亚组分析,结果显示,在中国人群中,该基因多态性与小儿热性惊厥发病风险具有显著关联(GG+CG vs.CC:OR=3.32,P<0.01;G vs.C:OR=3.23,P<0.01;GG vs.CC:OR=7.27,P<0.01;GG vs.CG+CC:OR=5.17,P<0.01:CG vs.CC:OR=2.56,P=0.02).而在其他人群中除在隐形模型(GG vs.CG+CC:OR=2.40,P<0.01)外,其他遗传模型均未显示明显相关性.根据FS诊断标准进行亚组分析,结果发现,依据中国标准进行诊断时,该基因多态性与小儿热性惊厥发病具有显著相关性(GG+CG vs.CC:OR=4.57,P<0.01;G vs.C:OR=4.36,P<0.01;GG vs.CC:OR=12.75,P<0.01;GG vs.CG+CC:OR=8.60,P<0.01:CG vs.CC:OR=3.40,P<0.01).结论 IL-6基因-572C/G(rs1800796)多态性可能与小儿FS易感性有关,G等位基因可能是FS发病的危险因子.     

酪氨酸羟化酶基因C-824T多态性与湖南汉族人群 原发性高血压易感性的关联研究

目的：通过病例-对照研究,探讨酪氨酸羟化酶（tyrosine hydroxylase, TH）基因C-824T多态性与中国湖南汉族人群原发性高血压遗传易感性的关系。方法：应用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)的分析方法,在368例原发性高血压患者和353例健康人群中对TH基因的C-824T进行基因分型。结果：(1)高血压病例组TH基因C-824T位点CC和CT+TT基因型频率分别为89.9%和10.1%,对照组CC和CT+TT基因型频率分别为88.7%和11.3%,2组间基因型的分布差异无统计学意义(P=0.579);高血压病例组和对照组中C等位基因的频率分别为94.8%和94.1%,两者之间差异亦无统计学意义（P=0.515）。(2)经Logistic回归分析结果显示,TH基因C-824T多态性与高血压病的发病风险无关（P=0.264）。(3)通过对性别进行分层分析,男性及女性病例组与对照组间TH基因C-824T基因型分布均无统计学差异(P=0.841及P=0.288)。(4)对照组TH基因C-824T多态位点CT+TT基因型个体舒张压显著高于基因型为CC的个体（P=0.015）。(5)通过对性别进行分层分析,对照组男性CT+TT基因型个体舒张压显著高于基因型为CC的个体（P=0.018）;对照组女性CT+TT基因型与CC基因型个体的舒张压的差别没有统计学意义（P=0.083）。结论：TH基因C-824T的遗传多态性与湖南汉族人群原发性高血压的易感性无关;TH基因C-824T的遗传多态性与湖南汉族人群男性的舒张压水平有关。     

HLA-DR基因与广西钦州市人群肺结核的相关性研究

目的探讨人类白细胞抗原HLA-DR等位基因与广西人群肺结核发病相关性,寻找与肺结核发病可能相关的HLA-DR易感基因。方法采用病例-对照研究方法,应用聚合酶链反应-序列特异性引物（PCR-SSP）技术对100名肺结核患者和105名健康对照者的HLA-DR等位基因进行分型,比较其等位基因频率（GF）并计算其比值比（OR）。结果肺结核病组中的HLA-DRB1＊14频率（12.0%）明显高于对照组（3.8%）,其差异具有显著统计学意义（χ2=4.775,P=0.029,OR=3.443）;肺结核病组中的HLA-DRB1＊13的频率（23.0%）明显低于对照组（42.9%）,其差异亦具有显著统计学意义（χ2=9.111,P=0.003,OR=0.398）。结论 HLA-DRB1＊l4基因可能与广西人群肺结核的发病密切相关,而HLA-DRB1＊13基因可能对广西人群肺结核发病具有拮抗作用。     

Leukemia in Utah and radioactive fallout from the Nevada test site. A case-control study

Previous studies reported an association between leukemia rates and amounts of fallout in southwestern Utah from nuclear tests (1952 to 1958), but individual radiation exposures were unavailable. Therefore, a case-control study with 1177 individuals who died of leukemia and 5330 other deaths (controls) was conducted using estimates of dose to bone marrow computed from fallout deposition rates and subjects' residence locations. A weak association between bone marrow dose and all types of leukemia, all ages, and all time periods after exposure was found. This overall trend was not statistically significant, but significant trends in excess risk were found in subgroups defined by cell type, age, and time after exposure. The greatest excess risk was found in those individuals in the high-dose group with acute leukemia who were younger than 20 years at exposure and who died before 1964. These results are consistent with previous studies and with risk estimates for other populations exposed to radiation.