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14.Meta分析系列之十四：Stata实现单核苷酸多态性研究的Meta分析.pdf4页
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中国循证心血管医学杂志2013年10月第5卷第5期 Chin J Evid Based Cardiovasc Med,Oct,2013,Vol.5,No.5 ?
445 ? ? ? 循证理论与实践
论著 Meta分析系列之十四：Stata实现单核苷酸多态性 研究的Meta分析 徐畅，刘同族，曾宪涛 【中图分类号】R4 【文献标志码】A 【文章编号】13 05-0445-04 基 因 多 态 性 是 指 在 一 个 生 物 群 体 中 ， 同 时 或 经 常
倚（这是由病例-对照研究的设计特点决定的）。在一个足
存在两种或多种不连续的变异型或基因型或等位基因， 够大的种群中，且个体间是自由交配的情况下，可以看做
包括DNA片段长度多态性、DNA重复序列多态性、单核 符合遗传平衡。
苷酸多态性三类[1] 。单核苷酸多态性（single-nucleotide HWE检验可在Excel表格设置上表的函数进行检验，也 [5]
polymorphism，SNP）是最常见的一种，为散在的单个碱基 可在Stata中进行检验，所用的是Stata独有的search功能 。
的不同，包括单个碱基的插入、缺失以及置换，在患某疾 使用Stata计算时，在命令窗口输入“search
病的人群中，出现一个频率较高的某等位基因或基因型的 Weinberg equilibrium”，就会在结果窗口显示很多相关的资
SNP，则意味着此疾病的患病风险可能会增加[2] 。随着分子 料，并附带有检验HWE的安装包，选择其中一个点击安装
生物学、遗传病学的快速发展，人们对基因与疾病之间关 即可。
系的研究越来越多，据统计，每年有超过6000篇基因流行病 1.4 Stata中的实现
Stata提供了两种进行SNP的Meta分析的命
学的原始文献公开发表[3] 。SNP的Meta分析是综合处理多个 令：第一，SNP研究的数据实质上属于二分类数据，因此可
这样探讨相同的某基因与疾病关系的原始研究结果，以得 以用metan命令来进行
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葡萄糖激酶基因6个标签单核苷酸多态性位点与2型糖尿病的相关性研究
目的 探讨葡萄糖激酶(glucokinase,GCK)基因6个标签单核苷酸多态性(tag singlenucleotide polymorphisms,tagSNPs)位点rs2971672、rs 、rs2268569、rs2268573、rs2300587、rs型糖尿病(type 2 diabetes,T2D)的关系.方法 病例对照研究.选取2013年8月至2014年12月在中山大学附属中山医院住院的中国南方汉族T2D患者499例(T2D组),同时选择在该院康体保健中心体检的汉族健康人499名作为对照组,对GCK基因的6个tagSNPs位点采用改良多重高温连接酶检测反应技术(improved multiple ligase detection reaction,iMLDR)进行基因分型,应用Hardy-Weinberg平衡规律检测样本代表性,采用x2检验、logistic回归分析比较T2D组和对照组基因型和等位基因频率的差异,并在加性、显性和隐性3种遗传模型下对各SNP位点进行相关性分析.应用Haploview软件构建GCK基因6个tagSNPs位点的单体型,分析是否存在连锁不平衡(linkage disequilibrium,LD)及不同的GCK单体型与T2D易感性的关系.结果 rs2268573、rs2300587、rs2268569、rs1476891的基因型(x2值分别为3.361、2.076、0.582、0.918,P均＞0.05)和等位基因频率(x2值分别为0.222、1.980、0.590、0.851,P均＞0.05)在T2D组和对照组之间差异均无统计学意义.rs2971672和rs 的基因型(x2值分别为6.896、7.990,P均＜0.01)和等位基因分布(x2值分别为4.708、5.979,P＜0.05、P＜0.01)在D2M组和对照组之间差异有统计学意义.在显性遗传模式下(rs2971672:OR=1.74,95％ CI=1.17 ～2.57,P＜0.01;rs:OR=1.54,95％ CI=1.17～2.04,P＜0.01)以及在加性遗传模式下(rs2971672:OR=1.51,95％CI=1.06～2.14,P＜0.05;rs:OR=1.26,95％ CI=1.04 ～ 1.52,P＜0.05)2个SNP位点的基因型分布在D2M组和对照组之间差异有统计学意义.GCK基因6个位点中的5个位点有两个LD域,rs2971672和rs2300587共存在TC、TA、CA三种主要单体型,单体型TA和CA均降低个体患T2D的风险,OR值分别为0.81(95％ CI:0.66～1.00,P ＜0.05)和0.78 (95％ CI:0.62 ～0.98,P＜0.05).rs2268569、rs和rs 1476891共存在TAG、TGG、TAT、CGG四种主要单体型,均与个体患T2D的风险无相关性(x2=2.718,P＞0.05).结论 在汉族人群中,GCK基因区域的rs2971672和rs位点与糖尿病遗传易感性密切相关,而rs2268573、rs2300587、rs2268569、rs 1476891位点与糖尿病遗传易感性无明确相关性.rs2971672和rs2300587 LD域单体型TA和CA均降低个体患T2D的风险;rs2268569、rs 、rs1476891 LD域四种主要单体型均与个体患T2D的风险无相关性.
Abstract：
Objective To investigate the relationships between Glucokinase (GCK) gene 6 (tag single-nucleotide polymorphisms,tagSNPs)sites which named rs,rs2971672,rs2268569,rs2268573,rs2300587 and rs1476891 polymorphisms and type 2 diabetes in Chinese Southern Han Population.Methods This study was designed as a case-control.499 type 2 diabetes patients and 499 healthy controls were chosen.All subjects were from August 2013 to December 2014 in Zhongshan Affiliated Hospital of Sun Yat-sen University.6 GCK tagSNPs sites were analyzed by improved multiple ligase detection reaction (iMLDR),and genotype and allele frequency between T2D group and healthy controls could be determined by chi-square test,logistic regression analysis,and tagSNPs were further analyzed under three genetic modes(dominant,recessive and additive).What's more,Haploview software was used to construct the haplotype of 6 GCK tagSNPs and the linkage disequilibrium (LD) and relationship between various GCK haplotype and T2D susceptibility could be analyzed.Results Genotype distribution of rs2268573,rs2300587,rs2268569 and rs1476891 (x2 were 3.361,2.076,0.582 and 0.918 respectively,all P ＞0.05) and allele frequency (x2 were 0.222,1.980,0.590 and 0.851 respectively,all P ＞ 0.05) in T2D group were no significant differences with health controls.Significant differences in genotype distribution of rs2971672 and rs (x2 were 6.896 and 7.990 respectively,all P ＜ 0.01) and allele frequency (x2 were 4.708 and 5.979,P ＜ 0.05 and P ＜ 0.01 respectively) were observed between T2D group and health controls.Under dominant model (rs2971672:OR =1.74,95％ CI =1.17-2.57,P ＜ 0.01;rs:OR =1.54,95 ％ CI =1.17-2.04,P ＜ 0.01) and additive model (rs2971672:OR =1.51,95 ％ CI =1.06-2.14,P ＜ 0.05;rs:OR =1.26,95％ CI =1.04-1.52,P ＜ 0.05),Genotype distribution of rs2971672 and rs2971672 in T2D were significantly different from health controls.There are two LD domains in 5 tagSNPs among those 6 sites of GCK gene.There are three main haplotypes(TC,TA,CA)in rs2971672 and rs2300587,and four main haplotypes (TAG,TGG,TAT,CGG) in Rs2268569,rs and rs1476891.Although TAG,TGG,TAT and CGG have no relevance to the individual risk of T2D (P ＞ 0.05),haplotype TA and CA reduce the individual risk of T2D with OR 0.81 (95％ CI:0.66-1.00,P＜0.05) and0.78 (95％ CI:0.62-0.98,P ＜0.01)respectively.Conclusions The results indicated that GCK gene 2 tagSNPs sites included rs2971672 and rs imparts susceptibility to T2D in Han Chinese,but not rs2268573,rs2300587,rs2268569 and rs1476891.Haplotype TA and CA in rs2971672 and rs2300587 reduce the individual risk of T2D and four main haplotypes (TAG,TGG,TAT,CGG) in rs2268569,rs and rs1476891 have no relevance to T2D.
Zhang Xiuming
Li Jingjing
Chen Qiong
作者单位：
中山大学附属中山医院检验医学中心, 中山市,528403
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基金项目：
广东省科技计划基金，中山市医疗卫生重大专项
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万方数据电子出版社上传用户：tzxbeqemes资料价格：5财富值&&『』文档下载 ：『』&&『』学位专业：&关 键 词 ：&&&&&权力声明：若本站收录的文献无意侵犯了您的著作版权，请点击。摘要:（摘要内容经过系统自动伪原创处理以避免复制，下载原文正常，内容请直接查看目录。）研讨配景子宫内膜异位症(endometriosis, EM),简称内异症,是生育年纪妇女的罕见病、多病发,指子宫内膜腺体和间质涌现在子宫腔之外的部位所激发的一系列症状。在中国人群中,其病发率达10-15%,且有逐年上升趋向,被称作“古代病”。内异症虽为良性疾病,但可出现出病变规模广、病变形状多样的临床特点,且极具侵袭性和复发性,实属难治之症。最近几年来,针对内异症病发机制的研讨已获得较多停顿,但其详细的病发机制尚不明白。内异症虽不是癌瘤,却出现出相似恶性肿瘤的特点,另有诸多未解之谜。近百年来,有关内异症病发机制的各类学说许多,如经血逆流学说、上皮化生学说、苗勒氏管发育异常学说、免疫炎症学说、经血管淋巴管远处转移学说、情况无害物资致病学说、遗传学说等等,但还没有一学说能周全阐释内异症病发机制。今朝以为,内异症具有必定的遗传性和家族集合偏向,内异症的易理性很年夜水平上取决于遗传实质之间的差异。跟着内异症相干的致病基因研讨停顿,已证明内异症是一种多基因遗传性庞杂疾病。人类可遗传变异中最多见的是单核苷酸多态性(Single Nucleotide Polymorphism, SNP), SNP可惹起个别对疾病易理性的差别。临床上,内异症被视为一种“类肿瘤疾病”,但是内异症与良性疾病、恶性肿瘤之间的间隔毕竟孰近孰远,现在还没有定论。跟着内异症病发机制的研讨慢慢深刻到份子程度和基因程度,肿瘤相干基因在内异症“类肿瘤行动”机制中施展的感化越来越受看重!而今抑癌基因的渐变或掉活在内异症恶变中施展主要感化的不雅点已被广泛承认,肿瘤相干基因的多态性可以经由过程转变基因转录和惹起响应卵白表达异常,进而影响个别对疾病的易理性及病发风险。肿瘤克制基因P53(tumor suppressor gene, P53)是人类恶性肿瘤中最多见的渐变基因之一：一旦P53基因产生渐变,其编码的卵白不只掉去正常功效,并且能够会涌现新的异常功效,以利于肿瘤构成,且P53基因的某些渐变与血管重生亲密相干。无独有偶,已有研讨提醒,内异症的产生、成长及恶变等进程均与血管重生亲密相干,二者之间能否存在联系关系性已惹起了学者们的看重。最近几年来,国际外关于肿瘤克制基因P53基因rs1042522位点与内异症易理性的研讨已在分歧种族人群中陆续展开。查阅文献发明,分歧人种遗传配景的差别可招致研讨结论不尽雷同。然则关于中国人群P53基因rs1042522位点的研讨,国际外还没有文献报导。特别是针对P53基因rs1042522位点的基因多态性,探讨内异症与良性疾病、恶性肿瘤之间的联系关系(即同步展开内异症组、对比组及恶性肿瘤组之间的联系关系性研讨),国际外均未见报导。本研讨搜集内异症患者460例、无内异症的正常妇女650例、子宫内膜癌患者113破例周血,采取等位基因特异性PCR(PCR-SSP)联合DNA测序的办法,从份子程度剖析P53基因rs1042522位点的基因多态性与内异症的相干性。为进一步体系评价P53基因rs1042522位点的基因多态性与内异症之间的相干性,本课题经由过程浏览和挑选出P53基因rs1042522位点的相干文献7篇,累计病例组(为内异症患者组)达968例,对比组(为非内异症组)达1282例,采取meta剖析办法,试图从“循证医学”(evidence-based medicine, EBM)角度验证P53基因rs1042522位点基因多态性与内异症病发的相干性,旨在从肿瘤相干基因的角度分析内异症的病发机制。研讨目标商量并体系评价中国汉族妇女肿瘤克制基因P53基因rs1042522位点多态性与子宫内膜异位症遗传易理性的相干性。对象与办法1研讨对象1.1研讨对象拔取2008年10月至2011年10月在南边医科年夜学南边病院、珠江病院、佛山市第一国民病院妇产科,行盆腹腔手术,并术后经病理检讨确诊的内异症患者460例为内异症组；选择同期在南边医科年夜学珠江病院妇产科因异位怀胎、输卵管结扎、输卵管复通、腹腔镜下输卵管通液、卵巢纯真囊肿行盆腹腔手术且术中及术背工术病理检讨均未发明内异症病灶及内膜病变者650例为对比组；选择同期在南边医科年夜学南边病院、珠江病院经诊断性刮宫及盆腹腔手术术后病理检讨确诊为子宫内膜腺癌患者113例,且同时消除其他妇科恶性肿瘤者为内膜癌组。3组受检者年纪间差别无统计学意义(P>0.05)。1.2Meta剖析文献归入尺度经由过程浏览和挑选国际外相干文献,选择(1)各研讨的目标、统计学办法类似,文献数据齐备；(2)病例组为经临床和病例检讨均证明为内异症的患者,且无其他归并症；(3)对比组为临床和病理检讨均证明为非内异症的其他良性妇科病患者或安康妇女；(4)三组人群的基因型频率散布相符哈迪温伯格(Hardy-Weinberg)均衡定律。2办法2.1试验办法2.1.1外周血DNA提取按OMEGA公司的E-Z96TM Blood DNA Kit提取外周血细胞基因组DNA。2.1.2P53基因rs1042522位点的SNP分型运用等位基因特异性PCR(PCR-SSP)技巧并联合DNA测序的办法对P53基因rs1042522位点多态性停止分型。2.2Meta剖析经由过程检索1995年1月至2012年1月, Pubmed数据库、EMBase数据库、万方医学网、中国知网(CNKI)和维普数据库(VIP),搜刮英文检索词：endometriosis、P53(tumor suppressor gene P53)、SNP(s)、gene、genetic、 polymorphism(s);中文检索词：内异症、P53基因、基因多态性、单核苷酸多态性、遗传变异。选出有关P53基因rs1042522位点多态性与内异症病发风险的病例对比研讨落后行质量评价,终究挑选出相符归入尺度的文献7篇,并采取RevMan5.0软件停止meta剖析。2.3统计及剖析办法2.3.1用直接计数法盘算各组基因频率散布,数据均用SPSS13.0停止统计剖析。遗传均衡吻合度χ2磨练群体基因频率散布相符Hardy-Weinberg均衡定律与否。两组之间等位基因及基因型频率比拟用χ2磨练,P50%,表现各研讨成果间存在统计学异质性,采取随机效应模子停止归并剖析,依据情形可停止亚组剖析或描写性剖析等。经由过程漏斗图检测能否存在揭橥偏倚。拔取OR值及其95%CI为评定罹患内异症风险的目标。成果1研讨对象年纪散布内异症组均匀年纪35.6±7.2岁,对比组均匀年纪34.8±6.3岁,内膜癌组均匀年纪48.8±5.8岁,三组年纪散布差别无统计学意义(P>0.05)。2PCR-SSP联合基因测序办法检测SNP分型中国汉族妇女P53基因rs1042522位点呈G/C多态性散布,且对比组基因散布频率相符Hardy-Weinberg均衡(P>0.05),解释归入的样本具有人群代表性。3P53基因rs1042522位点基因多态性与内异症的联系关系剖析3.1内异症组与对比组内异症组与对比组等位基因G、C散布分离为47.0%、53.0%和55.0%、45.0%,基因型GG、GC、CC散布分离为22.0%、50.0%、28.0%和31.7%、46.6%、21.7%。两组等位基因和基因型散布差别均有统计学意义(x2=13.958,P<0.01和χ2=14.341,P<0.01)。个中,携带等位基因C可以使内异症病发风险进步1.179倍(OR=1.179,95%CI为1.082～1.284),而携带G使其下降0.854倍(OR=0.854,95%CI为0.785-0.929)。携带基因型GC与GG比拟患内异症的风险度增高1.548倍(OR=I.548,95%CI为1.153～2.081),而携带基因型CC与GG比拟患内异症的风险度增高1.865倍(OR=1.865,95%CI为1.326～2.625)。3.2内膜癌组与对比组内膜癌组与对比组等位基因G、C散布分离为42.5%、57.5%和55.0%、45.0%,基因型GG、GC、CC散布分离为16.8%、51.3%、31.9%和31.7%、46.6%和21.7%。两组等位基因和基因型散布差别均有统计学意义(χ2=12.124,P<0.01和χ2=11.967,P0.05和χ2=1.636,P>0.05)。4P53基因rs1042522位点多态性与内异症病发风险相干性的meta剖析4.1P53基因rs1042522位点SNP等位基因频率与内异症病发的相干性等位基因G在两组间比拟,差别有统计学意义(P=0.0002；OR=0.74,95%CI为0.66-0.84),等位基因C在两组间比拟,差别有统计学意义(P=0.0002；OR=1.34,95%CI为1,18-1.52)。4.2P53基因rs1042522位点SNP基因型频率与内异症病发的相干性GG基因频率在两组间比拟,差别有统计学意义(P=0.0004；OR=0.66,95%CI为0.45-0.96),GC基因频率在两组间比拟,差别无统计学意义(P值年夜于0.05),CC基因频率在两组间比拟,差别有统计学意义(P=0.002；OR=1.19,95%CI为0.74-1.91)。结论1.P53基因rs1042522位点基因多态性与中国汉族妇女内异症的易理性相干。2P53基因rs1042522位点基因多态性与中国汉族妇女内膜癌的易理性相干。3P53基因rs1042522位点等位基因C可同时进步中国汉族妇女内异症和内膜癌的得病风险。4P53基因rs1042522位点携带GC和CC基因型(即杂合／纯合渐变基因型)可同时进步中国汉族妇女内异症和内膜癌的得病风险。5经]meta剖析磨练提醒,在多种族人群中,P53基因rs1042522位点SNP与内异症病发的易理性相干。6经meta剖析磨练提醒,P53基因rs1042522位点SNP中,携带GG基因型或携带G等位基因能够下降内异症得病风险,携带C等位基因能够增高内异症得病风险。7就遗传学而言,内异症的病发机制能够更接近恶性肿瘤。Abstract:Research background endometriosis (EMS), referred to as endometriosis, is a rare disease in women of reproductive age, frequently occurring disease, refers to the endometrial glands and between matter Chung now the place outside the uterine cavity excited by a series of symptoms. In the China crowd, the attack rate of 10-15%, and there is a rising trend year by year, known as the &ancient disease&. Endometriosis, though benign disease, but lesions wide scale, lesions in the shape of a variety of clinical features and very aggressive and recurrent, is difficult to cure the disease. In recent years, research on the pathogenesis of endometriosis has achieved more pause, but the detailed mechanisms of the disease is still not clear. Endometriosis is not cancer, but showed similar characteristics of malignant tumor, and many unsolved mysteries. Nearly a hundred years, about endometriosis disease hair mechanism of all kinds of doctrines are many, such as blood reflux theory, epithelization students theory, Mullerian tube abnormalities in the development of the theory, immune inflammation hypothesis, the lymph vessels tube distant metastasis theory, harmful material theory of disease, genetic theory and so on, but there is no theory can comprehensive interpretation of endometriosis disease mechanism. Today that endometriosis has certain genetic and family set bias, endometriosis, the rational depends on the very big level on the differences between the genetic essence. Along with the research of pathogenic gene of endometriosis coherent pause, has proved that endometriosis is a polygenic disease complex. The most common human genetic variation in single nucleotide polymorphism (Single Nucleotide, Polymorphism, SNP, SNP) can cause the disease susceptibility of the individual difference. Clinical and endometriosis is regarded as a kind of tumor disease &, but the interval between endometriosis and benign diseases, and malignant tumor after all is near or far, there is no conclusive. Follow the endometriosis disease hair mechanism research slowly deep into molecular level and gene level, tumor related gene display in endometriosis &tumor action mechanism of action is more and more valued! Now anti oncogene gradient or off live in malignant transformation of endometriosis display mainly affect the indecent point has been widely acknowledged and tumor related gene polymorphism can through changing gene transcription and cause abnormal expression of response with protein, thereby affecting the individual to disease susceptibility and disease risk. Tumor restrained gene p53 (tumor suppressor gene, p53) is the one of the most common human malignancies in gene mutation: once the p53 gene to produce a gradient, its encoded protein not only fell to normal functions, and will be the emergence of new abnormal effect, in order to facilitate tumor and p53 gene of some gradient and vascular regeneration is related closely. Coincidentally, remind the existing research, endometriosis of the birth, growth and malignant transformation process and vascular regeneration is closely related to, between the two can exist value from the relationship has caused scholars. In recent years, the research on Restraining Tumor Gene p53 gene rs1042522 loci associated with endometriosis sickness to rational has in the different ethnic groups started one after another. The literature invention, genetic background differences in race differences can lead to the conclusion of the study is not the same. But the research on the rs gene China population sites, has not been reported at home and abroad. Especially for the gene polymorphism of p53 gene rs1042522 sites and of endometriosis and benign disease, relationship between malignant tumor (i.e. launched simultaneously in endometriosis group and contrast group and malignant tumor group between related research), at home and abroad are reported. In this study, 460 patients with endometriosis patients and endometriosis in women with normal 650 cases and peripheral blood of patients with endometrial cancer 113 exception, allelic gene specific PCR (PCR-SSP) combined with DNA sequencing method is adopted, from the molecular level analysis of gene polymorphism of p53 gene rs1042522 sites and within the endometriosis coherence collected. The For further evaluation system of p53 gene rs1042522 site gene polymorphism of endometriosis and the coherence, this topic navigate through and pick out the p53 gene rs1042522 site coherent 7 literatures, the cumulative case group (group of patients with endometriosis of 968 patients, in contrast to the group (non endometriosis group) of 1282 cases take meta analysis method, attempts to &evidence-based medicine& (EBM, EBM) angle verification of p53 gene rs1042522 site gene polymorphism and endometriosis disease coherence to from the tumor coherent view of gene analysis of endometriosis disease mechanism. Objective to discuss and study the coherence evaluation system Chinese Han women tumor gene P53 restraint rs1042522 polymorphism and genetic susceptibility to endometriosis. The object and methods 1 research object research object from October 2008 to October 2011 with 1.1 in the Southern Medical University Hospital, south of Pearl River Hospital, Foshan city the first National Hospital of Obstetrics and Gynecology, for abdominal surgery, and postoperative pathology review of patients with endometriosis diagnosed 460 ca select the same period in the Southern Medical University Hospital in the Pearl River Department of Obstetrics and gynecology for ectopic pregnancy, tubal ligation, recanalization, laparoscopic tubal, ovarian cyst underwent abdominal surgery and pure intraoperative and postoperative pathologic review back workers were not invented endometriosis lesions and inner membrane lesions in 650 patien select the same period in the Southern Medical University in the south the Pearl River Hospital, hospital after diagnostic curettage and abdominal surgery postoperative pathological review diagnosed with endometrial adenocarcinoma in 113 cases, and at the same time to eliminate other gynecological malignant tumors for endometrial carcinoma Group. The 3 groups were no significant difference between the age (P&0.05). 1.2Meta analysis subsumed under the scale of literature through browsing and selection of international and related literatures, selection (1) the research target, statistical approaches are similar, the liter (2) group of patients for the clinical and case review showed that for the patients with endometriosis, and no other and
(3) contrast group for the clinical and pathological review proved for non endometriosis other benign gynecological patie (4) three groups of population genotype frequency distribution consistent hardy Weinberg (hardy Weinberg equilibrium law. 2 to 2.1 test methods of peripheral blood 2.1.1 DNA OMEGA's E-Z96TM Blood to extract DNA Kit extracted from peripheral blood cell genomic DNA. The 2.1.2P53 gene rs1042522 locus SNP genotyping using allele specific PCR (PCR-SSP) technique and combined DNA sequencing for the P53 gene rs1042522 polymorphism stop typing. 2.2Meta retrieval through the process of January 1995 January 2012, PubMed, EMBASE database, Wanfang, CNKI (CNKI) and VIP database (VIP), search the English word retrieval: gynecologic, p53 (tumor suppressor gene p53), SNP (s), gene, genetic, polymorphism (s); the Chinese key words: endometriosis, p53 gene, gene polymorphism, single nucleotide polymorphism, genetic variation analysis. Elected on p53 gene rs1042522 polymorphic loci of the endometriosis and disease hair risk case study falls, performed the quality evaluation and eventually selected line included in the scale of 7 literatures, and take the revman5.0 software to carry on the meta analysis. 2.3 statistical analysis method and 2.3.1 by direct counting method to calculate each gene frequency distribution data were used for statistical analysis SPSS13.0. The genetic equilibrium coincides with x 2 hone population gene frequency consistent with Hardy-Weinberg equilibrium law and not spread. Between the two groups of genotype and allele frequencies were compared to 2 P&0.05 for training, there was a statistically significant difference. With the odds ratio (odds ratio, OR) and 95% (95%CI) performance support interval absolute risk. Through the comparison research on the evaluation process of coherence cases SNP and endometriosis. Take the 2.3.2 RevMan5.0 software Meta analysis. Chapeau to subsume the research effect stop statistical heterogeneity analysis, take the card hone party split off, such as I2 (I2 statistic response heterogeneity department in the effect of the amount of the total variation in the proportion accounted for) is less than or equal to 50%, no statistical heterogeneity between the results of the research, adopted fixed effect model s such as I2&50%, the research results of existing statistical heterogeneity, take a random effects model stop merging analysis, according to the situation can be stop subgroup analysis or descriptive analysis and so on. Through the process of detecting the existence of funnel plots reveal bias. Select the OR value and 95%CI risk of endometriosis risk assessment target. Results 1 the research object age spread endometriosis group uniform age 35.6 + 7.2 years, contrast group of uniform age of 34.8 + 6.3 years, endometrial cancer group uniform age 48.8 + 5.8 years, three groups of age distribution difference is no statistical significance (P & 0.05). 2PCR-SSP combined gene sequencing method to detect SNP genotyping China Han women with p53 gene rs1042522 loci showed g / C polymorphism spread and contrast group of genes spread frequency consistent with Hardy Weinberg equilibrium (P & 0.05), included in the sample is representative of the population. 3P53 gene rs1042522 site gene polymorphism of patients with endometriosis of the relation analysis 3.1 endometriosis group and contrast group endometriosis group and contrast group alleles g, C spread from 47.0%, 53.0% and 55.0%, 45.0% and genotypes GG, GC and CC spread for separation of 22.0%, 50.0%, 28.0% and 31.7%, 46.6%, 21.7%. Two groups of allele and genotype distribution were statistically significant difference (x2=13.958, P&0.01 and X 2=14.341, P&0.01). Medium and carrying allele C can make endometriosis disease risk progress 1.179 times (OR=1.179,95%CI for 1.082 to 1.284), and carrying the G to 0.854 fold decrease OR=0.854,95%CI 0.785-0.929. Carrying GC and GG genotypes compared to patients with the risk of endometriosis is increased 1.548 times (OR=I.548,95%CI at present to 2.081), while carrying a CC and GG genotypes compared to patients with the risk of endometriosis is increased 1.865 times (OR=1.865,95%CI was 1.326 ~ 2.625). 3.2 endometrial carcinoma group and comparison group endometrial carcinoma group and comparison group allele G and C were 42.5%, 57.5% and spread from 55%, 45%, GG, GC and CC genotypes were 16.8%, 51.3%, spread the separation of 31.9% and 31.7%, 46.6% and 21.7%. Two groups of allele and genotype distribution were statistically significant difference (x 2=12.124, P&0.01 x 2=11.967, P&0.01). Medium, carrying C allele of the endometrial cancer risk progress 1.278 times OR=1.278,95%CI 1.126-1.452, and carrying g the decline 0.772 times (OR=0.772,95%CI was 0.658 to 0.906). Carrying GC and GG genotypes compared to suffering from the risk of endometrial cancer is increased 2.074 times OR=2.074,95%CI 1.197 to 3.599, carried in CC and GG genotypes compared to suffering from the risk of endometrial cancer is increased 286.4 times (OR=2.864,95%CI to 1.557 to 5.263). 3.3 endometriosis patients with endometrial cancer group of endometriosis and endometrial cancer group and G allele, C spread from 47.0%, 53.0% and 42.5% and 57.5%, genotype GG, GC and CC spread for separation of 22.0%, 50.0%, 28.0% and 16.8%, 51.3%, 31.9%. Two groups of allele and genotype distribution difference was not statistically significant (x 2=1.456, P&0.05 x 2=1.636, P&0.05). 4P53 gene rs1042522 polymorphic sites of the patients with endometriosis disease hair meta risk coherence on 4.1P53 gene rs1042522 SNP sites such as a gene frequency and endometriosis disease disease and the coherence of G allele in between the two groups compared analysis of the, and the difference is statistically significant (P = 0.0002; OR=0.74,95%CI for 0.66-0.84), allele C in between the two groups were compared, difference has statistical significance (P = 0.0002; OR=1.34,95%CI for 1,18-1.52). 4.2P53 gene rs1042522 locus SNP genotype frequency and endometriosis disease disease hair coherence GG genotype frequency between the two groups in the comparison, the difference was statistically significant (P = 0.0004; OR=0.66,95%CI for 0.45-0.96), gC gene frequency in between the two groups compared, difference no statistical significance (P value is greater than 0.05), the CC genotype frequency in between the two groups compared, difference has statistical significance (P = 0.002, OR=1.19,95%CI for 0.74-1.91). Conclusion 1.P53 gene rs1042522 polymorphism and China Han women endometriosis susceptibility coherent. Endometrial carcinoma 2P53 gene rs1042522 polymorphism and susceptibility of Han women Chinese coherent. 3P53 gene rs1042522 allele C and China progress of Han women endometriosis and endometrial cancer risk. Sites of 4P53 gene rs1042522 carrying GC and CC genotype (i.e. heterozygous / homozygous mutation type) and progress of Chinese Han women endometriosis and endometrial cancer risk of diseases. 5 by]meta analysis in a variety of hone remind, nationality, P53 rs1042522 gene SNP and endometriosis disease susceptibility to interference. 6 by meta analysis of hone remind, p53 gene rs1042522 single nucleotide polymorphisms (SNP), carrying the GG genotype or carrying g, allele can decreased the risk of endometriosis sick, carrying C allele can increase the risk of endometriosis sickness. 7 genetics, endometriosis pathogenesis to malignant tumor.目录:摘要3-9ABSTRACT9-15第一部分 P53基因rs1042522位点基因多态性与中国汉族妇女子宫内膜异位症易感性的关联研究17-42&&&&前言17-26&&&&对象与方法26-35&&&&结果35-39&&&&讨论39-42第二部分 P53基因rs1042522位点基因多态性与子宫内膜异位症易感性相关文献的meta分析42-55&&&&前言42-45&&&&对象与方法45-48&&&&结果48-54&&&&讨论54-55结论55-56参考文献56-62附录62-63综述一63-69&&&&参考文献66-69综述二69-75&&&&参考文献72-75成果75-76致谢76-77分享到：相关文献|}