中国人ApoE基因多态性与血管性痴呆关系的Meta分析

目的评价我国人群ApoE基因多态性与血管性痴呆的关系。方法对1996年1月至2011年5月公开发表的关于中国人血管性痴呆ApoE基因多态性的病例对照研究进行Meta分析。结果共纳入20个病例对照研究。Meta分析结果表明,中国人携带ε4等位基因的个体发生血管性痴呆的危险性的合并OR值为2.20[95%CI(1.81,2.66)];中国汉族人携带ε4等位基因的个体发生血管性痴呆的危险性的合并OR值为3.11[95%CI(2.06,4.69)]。结论载脂蛋白E基因多态性与中国人血管性痴呆相关,携带ε4等位基因的个体有发生血管性痴呆的倾向。     

中国人PDE4D基因(83T/C)多态性与缺血性脑卒中相关性的Meta分析

目的 综合评价中国人磷酸二酯酶4D(phosphodiesterase 4D,PDE4D)基因83T/C多态性与缺血性脑卒中发病的关系.方法 利用Meta分析方法对国内外公开发表的有关中国人PDE4D基因83T/C多态性与缺血性脑卒中关系的研究文献进行综合定量分析.结果 有6篇文献符合条件纳入研究,累积病例共1899例,累积对照组共2431例.Meta分析显示,以TT基因型为参照,携带CC基因型个体发生缺血性脑卒中危险性的OR值为1.53,95%,CI为1.22～1.9l,Z=3.69,P＜0.05;携带CC或CT基因型的个体发生缺血性脑卒中的危险性的OR值为1.34,95%,C I为1.18～1.53,Z=4.48,P＜0.05;等位基因频数C/T的OR值为1.28,95%,CI为1.15～1.41,Z=4.75,P＜0.05.结论 PDE4D基因83T/C多态性与中国人缺血性脑卒中的发病具有相关性.     

颅内动脉瘤介入术后再出血危险因素的Meta分析

目的探讨颅内动脉瘤介入术后再出血的危险因素。方法从CNKI、万方、PubMed等数据库中搜索与颅内动脉瘤介入术后再出血相关的临床研究文献,应用Meta分析的方法对纳入的文献进行综合分析,采用RevMan 5.1进行异质性检验及合并OR值和95%可信区间的计算。结果纳入本次Meta分析的文献共有5篇。性别、年龄、术后抗凝、动脉瘤大小、动脉瘤位置、合并脑血管痉挛及栓塞程度Meta分析的合并OR值及95%可信区间分别为0.80(0.49~1.31)、1.24(0.76~2.01)、3.91(2.20~6.95)、0.76(0.43~1.34)、0.99(0.60~1.62)、2.81(1.54~5.11)、1.08(0.63~1.84)。结论术后抗凝和脑血管痉挛是颅内动脉瘤介入术后再出血的危险因素。     

FGF1基因启动子-1385A/G多态性与阿尔茨海默病的关联性研究

目的　探讨中国汉族人成纤维细胞生长因子 1(FGF1)基因启动子、载脂蛋白 E(Apo E)基因多态性与散发性阿尔茨海默病 (Sporadic Alzheimer’s disease,SAD)的相关情况。方法　应用 PCR- RFL P方法检测 4 1例患者和 4 3例正常人中 FGF1基因启动子和 Apo E基因多态性分布 ,并通过比值比 (OR)对这两种基因与 AD之间进行关联分析。结果　 FGF1基因启动子多态性 (- 1385 A/G)与 AD的发病风险显著相关 ;GG基因型与非 GG基因型的比值比 (OR) =3.15 ,95 % CI=1.0 8～ 5 .4 6。SAD患者与 Apo E基因的等位基因 ε4正关联 ,Apo Eε4与非 ε4的比值比 (OR) =4 .0 2 ,95 % CI=1.6 4～ 9.5 2。在 Apo Eε4中携带 FGF1GG基因型的 (OR) =15 .2 2 ,95 % CI=6 .6 8～4 0 .5 8。结论　 FGF1基因启动子 - 1385 A/G多态是 AD发病的遗传危险因素。     

聚集素基因多态性与Alzheimer病相关性的Meta分析

目的探讨聚集素(CLU)基因rs11136000多态性与Alzheimer病(AD)的相关性。方法运用Meta分析的方法检索PubMed、EMBASE、AlzGene、CBM、CHKD等数据库,收集符合纳入标准的CLU基因多态性与AD关系相关病例-对照研究文献。对纳入文献进行H-W遗传平衡检验及异质性检验,选择固定效应模型,以CLU基因rs11136000位点(TT+TC)/CC基因型及T/C等位基因分布的优势比(OR)和95%可信区间(CI)为效应指标,利用RevMan 5.0、Stata 11.0软件计算合并OR值及95%CI;偏倚分析评估发表偏倚。结果纳入10篇文献共29个研究群体。按种族分为高加索亚组、亚洲亚组、非洲亚组、西班牙亚族及其他种族亚组,组内无显著异质性。AD高加索亚组与对照组比较,CLU基因rs11136000(TT+TC)/CC基因型和T/C等位基因分布的合并OR=0.83(95%CI:0.79～0.86)和0.88(95%CI:0.85～0.90),总体效应检验Z=8.44、9.74(均P<0.001)。亚洲亚组、非洲亚组、西班牙亚组及其他种族亚组(TT+TC)/CC基因型和(或)T/C等位基因分布差异无统计学意义。偏倚分析未发现明显发表偏倚。结论 CLU基因rs11136000多态性与高加索人群AD易感性相关,携带T等位基因可能降低AD发病风险。其对于亚洲人、非洲裔、西班牙人及其他种族人群的影响尚不确定。     

中国人群ApoE基因多态性与迟发性阿尔茨海默病关系的Meta分析

目的探讨中国人群载脂蛋白E(Apo E)基因多态性与迟发性阿尔茨海默病的关系。方法以载脂蛋白E基因(Apo E)、迟发性阿尔茨海默病(late onset Alzheimer's disease)、基因多态性(polymorphism)、China和Chinese等中英文词组,检索美国国立医学图书馆生物医学信息检索系统、荷兰医学文摘、EBSCO-CINAHL、Cochrane图书馆,以及中国生物医学文献数据库、中国知网中国知识基础设施工程、万方数据库等近20年发表的关于中国人群Apo E基因多态性与迟发性阿尔茨海默病关系的病例对照研究,采用Newcastle-Ottawa量表(NOS)进行文献质量评价,Rev Man 5.0统计软件进行Meta分析。结果共获得249篇文献,经剔除重复和不符合纳入标准者并补充相关文献,最终纳入13篇高质量临床研究(NOS评分≥5分),共3372例受试者(迟发性阿尔茨海默病患者1360例、对照者2012例)。Meta分析显示:携带Apo Eε4等位基因者发生迟发性阿尔茨海默病的风险高于携带Apo Eε3等位基因者(OR=3.710,95%CI:2.960~4.640;P=0.000);表现为Apo Eε3/ε4(OR=3.160,95%CI:2.390~4.180;P=0.000)、Apo Eε2/ε4(OR=3.410,95%CI:2.160~5.380;P=0.000)和Apo Eε4/ε4(OR=16.400,95%CI:8.200~32.810;P=0.000)基因型者发生迟发性阿尔茨海默病的风险高于Apo Eε3/ε3基因型者。结论携带Apo Eε4等位基因,以及Apo Eε3/ε4、Apo Eε2/ε4和Apo Eε4/ε4基因型是中国人群发生迟发性阿尔茨海默病的危险因素。     

上海地区汉族人群LMTK2与MSMB基因多态性与前列腺癌的易感性

目的：探讨中国上海地区汉族人群中LMTK2与MSMB基因多态性与前列腺癌遗传易感性的关系。 方法：采用病例对照研究,提取200例前列腺癌患者(病例组)和200例非前列腺癌健康人(对照组)外周血中基因组DNA,应用ABI 3730 XL测序仪分析病例组和对照组的LMTK2基因rs6465657位点以及MSMB基因rs10993994位点的多态性,比较不同基因型与前列腺癌易感性的关系。 结果：MSMB基因rs10993994位点密码子T/C基因型的个体其前列腺癌发病风险是C/C基因型的1.62倍(OR =1.62, 95% 可信区间：1.12~2.27),携带MSMB基因rs10993994位点等位基因T(T/T,T/C)的个体发生前列腺癌的风险性是C/C基因型的0.96倍(OR =0.96, 95% 可信区间：0.82~1.11)。LMTK2基因rs6465657位点密码子C/C基因型的个体其前列腺癌发病风险与T/C基因型无明显差异。 结论：中国上海地区汉族人群中MSMB基因rs10993994位点多态性可能对前列腺癌遗传易感性有影响,而LMTK2基因rs6465657位点对前列腺癌遗传易感性无明显影响。     

脑胶质瘤易感性与ERCC2基因第751号密码子多态性的关系

目的 探讨ERCC2基因第751密码子多态性和胶质瘤易感性的关系.方法 提取ERCC2基因751密码子多态性与脑胶质瘤易感性的关系的数据,筛选出符合条件的数据,应用Meta分析技术的各个软件对各项数据进行异质性检验,计算合并OR值及95％可信区间,并行发表偏倚的评估.结果 本研究中共有5组符合条件的数据,病例组2 307例、对照组3 455例.Meta分析合并结果显示13181A等位基因能够降低高加索人脑胶质瘤的发病风险(P =0.02,OR =0.91; 95％ CI0.84 ～0.98,Pheterogeneity=0.28).结论 ERCC2基因第751号密码子的多态性能够降低高加索人的脑胶质瘤的发病风险.     

血管紧张素转换酶基因插入/缺失多态性与原发性高血压合并缺血性脑卒中关系的Meta分析

目的研究血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性与原发性高血压(EH)合并缺血性脑卒中(IS)(EH+IS)的关系。方法检索1997年1月～2010年10月4个中国著名科技期刊全文数据库和Medline中收录的有关ACE基因I/D多态性与EH+IS的病例对照研究的文献,按纳入、排除标准选择文献,并采用RevMan 5.0软件进行Meta分析。结果共纳入12项病例对照研究,其中EH+IS患者1068例,EH患者1225例。Meta分析结果表明,EH人群携带D等位基因和DD基因型者发生IS的危险性分别明显高于I等位基因和非DD基因型者,合并OR分别为1.50(95%CI:1.33～1.70)和1.83(95%CI:1.32～2.55);而携带II基因型者发生IS危险性要低于非II基因型者,合并OR为0.63(95%CI:0.53～0.76)。结论 ACE基因I/D多态性与EH人群IS的发病有密切关系,D等位基因和DD基因型是IS的危险因素。     

SORL1基因多态与阿尔茨海默病发病风险的Meta分析

目的 运用Meta分析的方法探讨SORL1基因rs2070045位点基因多态与阿尔茨海默病(AD)发病风险的关系.方法 应用SORL1、sortilin-related recepmr、Alzheimer等关键词,检索Medline、Cochrane网书馆和中国生物医学文献数据库(CBM)发表的文章并附以文献追溯方法.应用RevMan4.2软件进行统计分析.结果 三篇文献共11组不同种族人群纳入分析,共有AD组2927例.对照组3869例.AD组和对照组rs2070045位点基因多态现象巾GG+GT基因型频率与最常见的纯合子TT基因型频率比的合并比值比(OR)值为1.19,95%可信区间为1.08～1.31,Z=3.39,P=0.0007,等位基因频率合并OR值为1.17,95%可信区间为1.07～1.27,Z=3.67,P=0.0002.结论 SORL1基因rs2070045位点多态性与AD患病风险相关.     

载脂蛋白E基因多态性与脑出血关系的Meta分析

OBJECTIVE： To evaluate the relationship between apolipoprotein E （ApoE） gene polymorphism and susceptibility to intracerebral hemorrhage （ICH） in Chinese population by a meta-analysis.
METHODS： Related literature regarding control analysis between ICH and control groups was collected. Independent case-control studies published between 1989 and 2007 that had complete data were included; and articles not closely related to the topic were excluded. The meta-analysis software, RevMan 4.2, was applied to analyze the odds ratio （OR） value in those studies included in the analysis to assess the relationship between susceptibility to ICH and ApoE polymorphism.
RESULTS： Eight papers which were in accordance with the inclusion criteria were selected, and a total of 1 249 ICH cases and 1 329 controls were involved. Meta-analysis results showed that with the wildtype E3/3 as a reference, the OR values （95% confidence interval） of intracerebral hemorrhage for subjects carrying E2/2, E3/2, E4/2, E4/3, and E4/4 were 1.15 （0.60–2.21）, 1.00 （0.79–1.28）, 3.01 （1.73–5.23）, 1.78 （1.41–2.24） and 1.94 （1.03–3.65）, respectively. The combined OR values （95% confidence interval） of intracerebral hemorrhage for ε4 and ε2 carriers were 1.53 （1.16–2.01）, and 0.93 （0.69–1.25）.
CONCLUSION： The results suggest that ApoE polymorphism is significantly associated with susceptibility to intracerebral hemorrhage and that ε4 carriers have a higher risk for intracerebral hemorrhage than others.     

Age-dependent association of apolipoprotein E genotypes with stroke subtypes in a Japanese rural population

BACKGROUND AND PURPOSE: The association between apolipoprotein E (apoE) polymorphisms and stroke has been controversial. These controversies may be due to inaccurate classification of stroke and differences in age ranges. We investigated the association between apoE genotypes and stroke subtypes (confirmed by CT or MRI findings) by case-control study in a Japanese rural population. METHODS: First-ever-stroke patients (n=322; cerebral infarction, n=201, intracerebral hemorrhage, n=84, and subarachnoid hemorrhage, n=37) aged 40 to 89 years were recruited from Hokuetsu Hospital, Japan. Healthy controls (n=1126) were selected from the general population in the same area. ApoE genotypes were determined by restriction fragment-length polymorphism analysis. RESULTS: Compared with apoE epsilon3/epsilon3 subjects, epsilon2 carriers had a 2-fold risk of cerebral infarction (OR 1.9, 95% CI 1.1 to 3.2). Among cerebral infarction patients, epsilon2 carriers had increased risks of cortical infarction (OR 2.4, 95% CI 1.3 to 4.6) (an anatomic subtype) and atherothrombosis (OR 3.9, 95% CI 1.7 to 9.0) and cardioembolism (OR 4.9, 95% CI 1.6 to 14.4) but not lacunar infarction (clinical subtypes). ApoE epsilon4 carriers had a 2. 5-fold risk of subarachnoid hemorrhage (OR 2.5, 95% CI 1.1 to 5.4). ApoE epsilon2/epsilon2 subjects had an increased risk of intracerebral hemorrhage (OR 4.4, 95% CI 1.0 to 19.7). ApoE epsilon3/epsilon4 subjects showed approximately 2-fold increased risk of atherothrombosis (OR 2.1, 95% CI 1.0 to 4.1) and intracerebral hemorrhage (OR 1.8, 95% CI 1.0 to 3.3). The association between epsilon2 and stroke was accentuated in subjects aged 70 years or older but not in those aged 40 to 69 years. CONCLUSIONS: Our study suggests that apoE epsilon2 is a risk factor for atherothrombosis, cardioembolism, and intracerebral hemorrhage, whereas epsilon4 is a risk factor for atherothrombosis, intracerebral hemorrhage, and subarachnoid hemorrhage. The occurrence of stroke may be affected by interaction between age and apoE gene polymorphisms.     

ApoE gene polymorphism and vascular dementia in Chinese population: a meta-analysis

Vascular dementia is the second common cause of dementia, only second to Alzheimer’s disease in later life. The Apolipoprotein E (ApoE) gene polymorphism as a risk factor in vascular dementia has been suggested, but direct evidence from genetic association studies remains inconclusive even in Chinese population. Therefore, we performed this meta-analysis in order to evaluate the relationship between ApoE gene polymorphism and susceptibility to vascular dementia in Chinese population by pooling data from all relevant case–control studies published domestically and abroad from January 1990 to May 2011. 18 case–control studies were selected. Meta-analysis results showed that the pooled OR value of vascular dementia subjects in Chinese population with ε4 allele carriers was 2.07 [95% CI (1.69, 2.53)], and the pooled OR value of vascular dementia subjects with E4/E4 genotype was 3.34 [95% CI (1.89, 5.88)]. These results suggest that ApoE polymorphism is significantly associated with susceptibility to vascular dementia in Chinese population. The subject with at least one ε4 allele or E4/E4 genotype has higher risk suffering from vascular dementia than others.     

脑出血内、外科治疗随机对照试验的Meta分析

目的 评价比较内、外科两种方法治疗高血压脑出血的疗效.方法 对所有已发表的脑出血随机对照试验(RCT)进行Meta分析.结果 (1)共纳入13个符合要求的RCT研究,包括脑出血患者2 842例.(2)Meta分析结果显示脑出血内、外科治疗患者死亡率OR合并值在发病后1个月为0.73(0.48,1.13),两组差异无统计学意义(P＞0.05).但在发病3-12个月后OR合并值为0.77(0.64,0.91),外科治疗组明显优于内科治疗组,差异有统计学意义(P＜0.05).(3)发病3个月以后,患者生活依赖的OR合并值为0.84(0.39,1.81),两组差异无统计学意义(P＞0.05),但在发病6-12个月后,外科治疗组患者生活能力明显优于保守治疗组,OR值为0.63(0.41,0.98),差异有统计学意义.结论 外科手术远期疗效优于内科保守治疗,能显著提高脑出血患者存活率,并有效改善日常生活能力.

Abstract：

Objective To evaluate the efficacy between surgical treatment and conservative treatment in intracerebral hemorrhage by meta analysis. Method We identified randomized controlled trials (RCT) of intracerebral hemorrhage. And Meta - analysis was conducted on homogeneous studies.Result Thirteen RCTs(2 842 patients) were included. Meta -analysis was conducted on included studies including surgical treatment or medical treatment for intracerebral hemorrhage patients. The mortality OR (95%CI) values was 0.73 (0.48, 1.13) at the end of 1 month. There was no significant difference of survival rate between two groups ( surgical treatment group and conservative treatment group, P ＞ 0. 05 ). But at the end of 3 - 12 months, the mortality OR ( 95% CI ) values was 0. 77 ( 0. 64,0. 91 ). The difference between two groups was not significant ( P ＜0. 05). The patients dependence OR(95%CI) value was 0.84(0. 39, 1. 81 ) at the end of 3 month. The difference between two groups was not significant( P ＞ 0. 05 ). But at the end of 6 - 12 months, patients dependence OR ( 95% CI ) value was 0. 63 ( 0. 41,0. 98 ). The difference of two groups was significant ( P ＜ 0. 05 ) . Conclusions As compared with conservative treatment, surgical treatment could remarkably decrease long - term mortality, and improve the ability of daily life.     

上海市社区人群阿尔茨海默病与载脂蛋白E基因的关联分析

目的探讨上海地区社区老年人群中阿尔茨海默病(AD)与载脂蛋白E(ApoE)ε     

开放性颅脑创伤早期癫痫发作危险因素分析

目的探讨开放性颅脑创伤后早期癫痫发作危险因素,并提出初步预防措施。方法对2006年9月-2009年9月诊断与治疗的91例开放性颅脑创伤患者的临床资料进行单因素及多因素Logistic逐步回归分析,筛选颅脑创伤后早期癫痫发作之危险因素。结果单因素分析显示,年龄（X^2=5．131,P=0．023）、颅脑创伤分型（X^2=6．302,P=0．043）、损伤部位（X^2=12．800,P=0．046）,以及伴发脑挫裂伤（X^2=7．187,P=0．007）、外伤性蛛网膜下隙出血（X^2=11．092,P=0．001）、颅内血肿（X^2=6．555,P=0．010）和凹陷性骨折（X^2=8．463,P=0．043）等项因素与开放性颅脑创伤后早期癫痼发作显著相关。进一步Logistie逐步回归分析,仅年龄（OR=7．719,95％CI=1．129。52．777;P=0．037）、脑挫裂伤（OR=28．590,95％CI=2．241．364．734;P=0．010）、外伤性蛛网膜下隙出血（OR=8．244,95％CI=1．259。53．706;P=O．028）和颅内血肿（OR=24．344,95％CI=2．415．345．395;P=0．007）为危险因素,且以脑挫裂伤危险度相对较高;而与颅脑创伤分型、损伤部位及凹陷性骨折无关。结论开放性颅脑创伤后早期癫痼发作应及时治疗,对合并危险因素的患者应早期给予预防性抗癫痫药物治疗。     

Association between apolipoprotein CI HpaI polymorphism and sporadic Alzheimer's disease in Chinese

OBJECTIVE: To investigate into the relationship of apolipoprotein CI (ApoCI) polymorphism with sporadic Alzheimer's disease (AD) in Chinese. SUBJECTS AND METHODS: A total of 257 AD patients and 242 age-matched elderly individuals were genotyped for the ApoCI HpaI and apolipoprotein E (ApoE) HhaI polymorphisms. RESULTS: The ApoCI A allele was associated with AD of moderate to severe dementia when patients were divided into two subgroups according to Clinical Dementia Rating scale, and the AA genotype was strongly associated with moderate to severe AD in ApoE epsilon4 allele carriers [odds ratio (OR) = 8.19, 95% confidential interval: 1.28-52.30, after adjusting for age and gender by logistic regression analysis], although in total no significant differences of allele or genotype frequency between patients and controls were found. CONCLUSION: The present study partially confirmed the previous findings, suggesting that the ApoCI A allele might contribute to the susceptibility to moderate to severe sporadic AD in Chinese.     

载脂蛋白E基因多态性和脑出血关系的研究

目的:探讨载脂蛋白E基因(ApoE)多态性与脑出血的相关关系。方法:采用病例-对照研究,对313例脑出血患者和351例正常对照组进行研究。采用聚合酶链式反应-限制性片段长度多态性方法测定ApoE基因多态性。结果:脑出血组ApoE基因型频率E3/3、E3/4、E3/2、E2/4、E4/4和E2/2型分别为69.0％、15.00％、11.5％、2.9％、1.0％、0.6％。ApoE各基因型和等位基因频率在脑出血组和对照组之间无显著性差异(P>0.05)。结论:研究未发现ApoE基因多态性与脑出血之间存在相关关系     

Meta-analysis of APOE ε2/ε3/ε4 polymorphism and cerebral infarction

The risk of cerebral infarction (CI) is contributed to the combination of environmental influences and genetic factors. The Apolipoprotein E (APOE) gene polymorphism as a risk factor in CI has been suggested, but direct evidence from genetic association studies remains inconclusive even in Chinese population. The purpose of this study was to identify association between the APOE ε2/ε3/ε4 polymorphism and the development of CI. Published relevant case–control studies were collected from electronic databases. Data were combined using odds ratio (OR) with 95 % confidence interval (CI). Totally, 29 studies published from 1997 to 2012, involving 2,737 CI cases and 2,689 controls in Chinese population were subjected to final analysis. The pooled results suggested that CI subjects carrying ε4 allele had an increased risk for CI (ε4 vs. ε3: OR = 2.50, 95 % CI 1.98–3.16, P < 0.001, ε4 carriers vs. E3E3 genotype: OR = 2.82, 95 % CI 2.16–3.67, P < 0.001), compared with those carrying ε3 allele. However, carriers of APOE ε2 allele had no significant increased risk for CI, compared with those carrying ε3 allele. Potential publication bias was observed in the genetic model of ε4 versus ε3, but the results might not be affected deeply by the publication bias. Using the trim and fill method, the adjusted risk estimate for ε4 allele versus ε3 allele was attenuated but remained significant (OR = 2.00, 95 % CI 1.59–2.53, P < 0.001), suggesting the stability of our results. Taken together, our study suggests that APOE ε4 allele is associated with an increased risk of developing CI in Chinese population.     

多巴胺D2受体基因多态性与脑出血的相关性研究

目的 探讨多巴胺D2受体（DRD2）基因TaqI位点多态性与中国湖南地区汉族人群脑出血发病的相关性.方法 本研究筛选121例脑出血患者,匹配103例正常体检人群为对照,PCR-RFLP检测DRD2 TaqI基因多态性.结果 DRD2 TaqI三种基因型（A1A1,A1 A2,A2A2）频率及两种等位基因（A1,A2）频率在脑出血组和正常对照组分布的差异无统计学意义（P＞0.05）.脑出血组中高血压亚组、非高血压亚组及对照组三者两两比较DRD2 TaqI基因型频率分布的差异无统计学意义（P＞0.05）.Logistic回归调整了脑出血环境因素的影响后,DRD2 TaqI基因多态性仍与脑出血的无相关性（P＞0.05）.结论 DRD2 TaqI基因多态性可能与中国湖南地区汉族人群脑出血无关.