MTHFR基因多态性与中国北方人群脑膜瘤发病的相关性分析

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与中国北方人群脑膜瘤发病的相关性。方法:选择2012年1月-2013年12月在黑龙江省哈尔滨医科大学附属第二医院的第一、三病房接受手术治疗的脑膜瘤患者317例(实验组)及320例非脑膜瘤患者(对照组)为研究对象,利用聚合酶链反应限制性多态性片段长度(PCR-RFLP)检测和比较两组MTHFR两个单核苷酸多态性位点(C677T、A1298C)各种基因型(CC、CT、TT)的分布情况及等位基因的频率。结果:两组MTHFR的C677T中CC基因型的频率和TT基因型的频率比较有显著性差异(CC:OR=2.012,95%CI=1.460-2.772;TT:OR=0.399,95%CI=0.254-0.628,P0.05),实验组MTHFR的(0.450)C677T中的T等位基因频率明显高于对照组(0.320)(OR=0.529,95%CI=0.420-0.666,P0.05)。两组A1298C的等位基因分布比较没有统计学差别(P0.05)。结论:MTHFR基因的C677T中TT等位基因提示潜在的易患脑膜瘤的风险,而CC等位基因会降低中国北方人群患脑膜瘤的风险。     

CYP1A1、CYP1B1、NET、DAT1单个和联合基因型与汉族人群乳腺癌易感性的研究（英文）

乳腺癌是最常见的女性癌症,其发生是遗传因素和环境因素相互作用的结果。因此,我们就CYP1A1MspⅠ(m1多态)、CYP1B1 Leu432Val、NET T-182C、DAT1-VNTR等基因多态性对新疆汉族人群乳腺癌易感性的研究进行探讨。在以144例乳腺癌患者和120例正常对照组为研究对象的病例-对照研究中,发现CYP1A1MspⅠ位点CC基因型、C等位基因(OR=3.32,95%CI:1.24~8.86;OR=1.58,95%CI:1.09~2.31)和高风险联合基因型CYP1A1 MspⅠ与CYP1B1 Leu432Val,CYP1A1 MspⅠ与DAT1-VNTR,CYP1B1 Leu432Val与DAT1-VNTR(OR=2.43,95%CI:1.23~4.78;OR=4.53,95%CI:1.26~16.27;OR=2.98,95%CI:1.10~8.06)与乳腺癌风险增加有关。CYP1B1、NET和DAT1基因多态性与乳腺癌易感性无关。这些研究结果表明,CYP1A1 MspⅠ多态性和CYP1A1、CYP1B1、DAT1高风险联合基因型能增加新疆汉族人群患乳腺癌的风险。     

中国汉人纤维蛋白原β链基因-148C/T,-455G/A多态性与冠心病关系的Meta分析

有关中国汉人纤维蛋白原β链基因多态性与冠心病关系的研究屡见报道,但不同的研究之间结果存在一定的差异.本研究根据相应的入选条件,通过文献检索收集中国汉人纤维蛋白原β链基因-148C/T,455G/A多态性与冠心病关系的病例-对照研究,剔除不符合要求的文献,对入选文献进行一致性检验并根据检验结果进行数据合并荟萃(Meta)分析,计算总OR值.共13篇文献符合要求纳入研究,其中7篇关于-148C/T多态性研究包括1488例冠心病患者和1234例对照人群,9篇关于-455G/A多态性的研究包括1023名患者和1081名对照者,入选研究无明显发表偏倚,入选研究的同质性检验显示各研究结果间存在明显的异质性,数据合并结果显示-148C/T多态性位点C/T T/T比C/C的OR值为1.31,95%CI为0.94~1.84(P=0.11),-455G/A多态性位点G/A A/A比G/G的OR值为1.75,95%CI为1.24~2.46(P=0.001).本研究的初步结果显示纤维蛋白原β链基因-455G/A多态性与中国汉人冠心病易感性相关,-455A等位基因可能是冠心病的遗传易感基因,-148C/T基因多态性与中国汉人冠心病易感性无明显关系.     

SLC30A8 基因rsl3266634 多态性与内蒙古地区汉族人群2 型糖尿 病的相关性研究

目的:研究内蒙古地区汉族人群SLC30A8(solute carrier family 30,member 8)基因rsl3266634单核苷酸多态性(Single nucleotide polymorphism,SNP)的等位基因和基因型频率分布与2型糖尿病(Type 2 diabetes,T2DM)的相关性。方法:采用等位基因特异性聚合酶链式反应(AS-PCR),对222例内蒙古地区汉族人(其中T2DM组125例,正常对照NC组97例)rsl3266634进行基因分型。结果:T2DM组中rsl3266634的C等位基因频率、CC基因型频率分别为61.2%和28.4%,均显著高于NC组的53.1%和24.7%(P值均<0.05);而T2DM组的TT基因型频率为6.4%,显著低于NC组的18.6%(P<0.05)。C等位基因携带者患T2DM的风险是T等位基因的1.64倍(OR=1.64,95%CI=1.125-2.402)。结论:SLC30A8基因rsl3266634多态性位点的C等位基因可能是T2DM的风险等位基因,该位点C/T多态性与内蒙古地区汉族人群T2DM具有相关性,可能是内蒙古地区汉族人T2DM的易感基因之一。     

脯氨酸脱氢酶基因1945(T/C)多态性与精神分裂症的关联研究

目的:旨在探讨PRODH基因与汉族人群精神分裂症的时空联系。方法:采用聚合酶链式反应—限制性片断长度多态性方法,分析330例精神分裂症患者和344例正常对照者中PRODH*1945(T／C)多态性的基因型,比较病例组与对照组之间该多态性的基因型及等位基因的频率差异,进一步分析携带不同基因型的精神分裂症患者的发病年龄。结果:与正常对照组相比,精神分裂症患者PRODH*1945(T／C)多态性的基因型(x2=8．171,df=2,p=0．016)和等位基因(C>T,x2=5．249,df=1,p=0．021,OR=1．37,95％CI:0．56-0．96)的频率差异有统计学意义,携带风险等位基因C的精神分裂症患者发病年龄小于携带T者,差异存在弱显著性(CC CT:20．43 4．71岁,TT:22．57±5．23岁,t=-2．173,p=0．045)。结论:PRODH*1945(T／C)基因多态性可能参与精神分裂症发病机制及影响精神分裂症的发病年龄。     

apelin基因rs2235306位点多态性与哮喘的相关性研究

目的:探讨apelin基因rs2235306位点多态性与哮喘的相关性。方法:以外周血全血DNA为模板,应用四引物扩增受阻突变体系PCR(Tetra-primer ARMS PCR,T-ARMS-PCR)方法对158例哮喘患者(AS)和79例健康个体(NC)apelin基因rs2235306位点基因型进行分析,同时进行肺功能检查(FEV1、FVC、FEV1/FVC)。结果:AS组和NC组apelin基因rs2235306位点等位基因T和C频率分布具有统计学意义(X2=6.906,P=0.009,OR=1.688,95%CI=1.140-2.497),AS组C等位基因频率显著高于健康对照组;AS组和NC组基因型分布具有统计学意义(X2=14.243,P=0.000,OR=3.894,95%CI=1.861-8.149),其中CC基因型患哮喘的风险较高,为TT+TC基因型的3.894倍。AS轻度组和AS中重度组基因型CC和TT+TC频率及等位基因T和C频率比较均无统计学意义。结论:apelin基因rs2235306位点多态性和哮喘的发病具有一定的相关性,C等位基因可能是哮喘的遗传易感基因,CC基因型携带者哮喘的患病风险可能增加,但与哮喘的严重程度无明显相关性。     

SLC6A4基因多态性与海洛因依赖的关联性研究

目的:探讨5-羟色胺转运体基因(solute carrier family 6 member 4,SLC6A4)基因4个单核苷酸多态性(single nucleotide polymorphism,SNP)位点与海洛因依赖之间的关系。方法:严格按照诊断标准,选取无亲缘关系的海洛因依赖个体397例(病例组)及健康对照个体402例(对照组)提取基因组DNA,采用SNaPshot SNP分型技术对SLC6A4基因4个SNP位点(rs1042173,rs3813034,rs6354,rs7224199)进行基因分型,比较病例-对照组间各位点等位基因、基因型频率的差异。结果:病例组和对照组SLC6A4基因rs1042173和rs3813034位点的基因型和等位基因频率比较存在显著性差异(P0.05),rs1042173的C等位基因(P=0.031,OR=1.317,95%CI=1.026-1.691)及rs3813034的C等位基因(P=0.013,OR=1.375,95%CI=1.069-1.768)是海洛因依赖的危险因素。病例组TCC单倍型(rs7224199、rs3813034和rs1042173)的比例较对照组显著增高(P0.05)。结论:SLC6A4基因rs1042173和rs3813034多态性可能与海洛因成瘾有关,携带有rs1042173的C等位基因和rs3813034的C等位基因的个体及携带TCC单倍型的个体可能更容易对海洛因产生依赖。     

E 选择素基因多态性与新疆哈萨克族患者脑梗死的关系

目的:探讨E一选择素(E-selectin)基因多态性与新疆哈萨克族患者脑梗死(cebreral infarction,CI)的关系。方法:采用聚合酶链反应一限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)和DNA序列测定法检测103例CI及110例对照组E-selectin基因第4外显子A561C(S128R)、第10外显子C1839T(L554F)多态性。结果:E-se-lectin基因S128R基因型频率和等位基因频率在CI组和对照组比较差异有显著性(P<0.05),基因型频率的相对风险分析发现,SR基因型携带者患CI的风险是SS基因型的2.355倍(OR=2.355,95%CI:1.209～4.588);E-selectin L554F基因型在两组中的分布差异有显著性(X2=5.463,P<0.05),基因型频率的相对风险分析,LF基因型患CI的风险是LL基因型的2.315倍(OR=2.315,95%CI:1.132～4.737)。结论:E-selectin S128R和L554F多态性与脑梗死易感性有关;R等位基因和F等位基因可能是新疆哈萨克族CI发病的遗传易感基因。     

SLC30A8基因rsl3266634多态性与内蒙古地区汉族人群2型糖尿病的相关性研究

目的：研究内蒙古地区汉族人群SLC30A8（solute carrier family 30,member 8）基因rsl3266634单核苷酸多态性（Single nucleotide polymorphism,SNP）的等位基因和基因型频率分布与2型糖尿病（Type 2 diabetes,T2DM）的相关性。方法：采用等位基因特异性聚合酶链式反应（AS-PCR）,对222例内蒙古地区汉族人（其中T2DM组125例,正常对照NC组97例）rsl3266634进行基因分型。结果：T2DM组中rsl3266634的C等位基因频率、CC基因型频率分别为61.2%和28.4%,均显著高于NC组的53.1%和24.7%（P值均〈0.05）;而T2DM组的TT基因型频率为6.4%,显著低于NC组的18.6%（P〈0.05）。C等位基因携带者患T2DM的风险是T等位基因的1.64倍（OR=1.64,95%CI=1.125-2.402）。结论：SLC30A8基因rsl3266634多态性位点的C等位基因可能是T2DM的风险等位基因,该位点C/T多态性与内蒙古地区汉族人群T2DM具有相关性,可能是内蒙古地区汉族人T2DM的易感基因之一。     

ERα-29 位基因多态性与HBV相关原发性肝癌易感性的关系分析

目的:探讨ERα-29位基因多态性与HBV相关原发性肝癌(PHC)易感性的关系。方法:通过聚合酶链反应-限制性片段长度多态性法检测我院100例HBV相关原发性肝癌患者(PHC组)与95例同期健康体检者(对照组)的ERα-29位基因多态性并对两组间各等位基因、基因型频率进行比较。结果:PHC组ERα-29位基因的TT、TC和CC基因型分别有31例(31.00%)、45例(45.00%)和24例(24.00%),T与C等位基因频率分别为53.50%和46.50%,对照组ERα-29位基因的TT、TC和CC型基因型分别有11例(11.58%)、39例(41.05%)和45例(47.37%),T与C等位基因频率分别为32.11%和67.89%,两组间基因型分布、等位基因频率差异均具有统计学意义(P0.05);T等位基因发生PHC的风险是C等位基因的2.43倍(OR=2.43,95%CI:1.37~4.32)。结论:ERα-29位基因与HBV相关原发性肝癌易感性有关,其中T等位基因可增加发生风险。     

miR-196a2 C allele is a low-penetrant risk factor for cancer development

Published data on the association between miR-196a2 T/C polymorphism and cancer susceptibility are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. A total of 21 studies including 10,441 cases and 12,353 controls were involved in this meta-analysis. Overall, significantly elevated cancer risk was associated with miR-196a2 C allele when all studies were pooled into the meta-analysis (TC vs. TT: OR=1.23, 95% CI=1.11-1.36; CC vs. TT: OR=1.30, 95% CI=1.14-1.48; dominant model: OR=1.25, 95% CI=1.13-1.38). In the subgroup analysis by ethnicity, significantly increased risks were found in Asains (TC vs. TT: OR=1.24, 95% CI=1.10-1.40; CC vs. TT: OR=1.31, 95% CI=1.13-1.52; dominant model: OR=1.26, 95% CI=1.12-1.41) but with bordline statistical significance in Caucasians (TC vs. TT: OR=1.15, 95% CI=1.00-1.31). In the subgroup analysis by cancer type, statistically significantly increased risks were found for breast cancer (TC vs. TT: OR=1.15, 95% CI=1.01-1.31; CC vs. TT: OR=1.30, 95% CI=1.01-1.68; dominant model: OR=1.22, 95% CI=1.00-1.50; and recessive model: OR=1.11, 95% CI=1.01-1.23) and lung cancer (CC vs. TT: OR=1.30, 95% CI=1.10-1.54; and recessive model: OR=1.18, 95% CI=1.02-1.36). When stratified by study design, statistically significantly elevated risk was found in hospital-based studies (TC vs. TT: OR=1.30, 95% CI=1.13-1.49; CC vs. TT: OR=1.37, 95% CI=1.14-1.66; dominant model: OR=1.32, 95% CI=1.15-1.53) and population-based studies (CC vs. TT: OR=1.19, 95% CI=1.06-1.35; dominant model: OR=1.13, 95% CI=1.01-1.25). Despite some limitations, this meta-analysis suggests that the miR-196a2 C allele is a low-penetrant risk factor for cancer development.     

Interactions between <Emphasis Type="Italic">CYP1A1</Emphasis> polymorphisms and cigarette smoking are associated with the risk of hepatocellular carcinoma: evidence from epidemiological studies

The Cytochrome P-450 1A1 (CYP1A1) gene has been implicated in the etiology of hepatocellular carcinoma (HCC). However, the results have been inconsistent. In this study, a meta-analysis was performed to clarify the associations of polymorphisms in CYP1A1 gene with HCC risk. Published literature from PubMed, Embase, CNKI and Wanfang Data were retrieved. Pooled odds ratio (OR) with 95% confidence interval (CI) was calculated using fixed- or random-effects model. Eight studies (1,752 cases and 2,279 controls) for Ile-Val polymorphism and eight studies (933 cases and 1,449 controls) for MspI polymorphism were identified. The results showed that there was no statistically significant association between the Ile-Val polymorphism and HCC risk under all genetic models (co-dominant model: Val/Val vs. Ile/Ile: OR = 1.62, 95% CI 0.96-2.72 and Ile/Val vs. Ile/Ile: OR = 1.15, 95% CI 0.87-1.52; dominant model: OR = 1.25, 95% CI 0.92-1.70; recessive model: OR = 1.48, 95% CI 0.99-2.21). The MspI polymorphism was also not associated with HCC risk (co-dominant model: m2m2 vs. m1m1: OR = 1.09, 95% CI 0.83-1.42 and m1m2 vs. m1m1: OR = 1.30, 95% CI 1.05-1.61; dominant model: OR = 1.20, 95% CI 0.99–1.45; recessive model: OR = 0.94, 95% CI 0.74-1.18). However, the significant associations were found between both the Ile–Val and MspI polymorphisms and HCC risk among the cigarette smoking subjects (Ile-Val: OR = 1.40, 95% CI 1.06-1.85; MspI: OR = 2.65, 95% CI 1.47-4.77). The present meta-analysis indicated that the MspI and Ile-Val polymorphisms of CYP1A1 may play important roles in increasing susceptibility to smoking-related HCC.     

Genetic association between IL-27 rs153109 polymorphism and cancer risk in Chinese population: a meta-analysis

IL-27 plays an important role in anti-cancer activity. The -964A/G polymorphism in IL-27 gene has been implicated in susceptibility to cancer, but the results were conflicting. The aim of this study was to assess the association between this polymorphism and cancer risk. Pubmed and Wanfang database were searched for all publications concerning IL-27 -964A/G polymorphism and cancer risk. Odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of association. Statistical analysis was performed using Stata 11.0 software. A total of eight case–control studies including 2044 cancer cases and 2197 controls were identified. Overall, significant association between IL-27 -964A/G polymorphism and cancer risk was observed (GG versus AA: OR?=?1.26, 95% CI?=?1.03–1.52; GG versus AG?+?AA: OR?=?1.20, 95% CI?=?1.00–1.44). In subgroup analysis based on cancer type, significant association was found in colorectal cancer (GG versus AA: OR?=?1.55, 95% CI?=?1.07–2.27; AG versus AA: OR?=?1.31, 95% CI?=?1.02–1.67). The current meta-analysis suggests that IL-27 -964A/G polymorphism might enhance cancer risk. However, large-scale and well-designed studies are still needed to confirm the result of our meta-analysis. The association of IL-27 polymorphism with colorectal cancer may provide insight for future therapies.     

Association of p53 Arg72Pro polymorphism with gastric cancer: a meta-analysis

Background: p53 tumor suppressor gene Arg72Pro polymorphism has been associated with gastric cancer. However, results were inconsistent. We performed this meta-analysis to estimate the association between p53 Arg72Pro polymorphism and gastric cancer.

Methods: An electronic search of PubMed was conducted to select studies. Studies containing available genotype frequencies of Arg72Pro were chosen, and the association was assess by pooled odds ratio (ORs) with 95% confidence interval (CIs).

Results: The meta-analysis suggested that the p53 Arg72Pro was associated with the gastric cancer risk (Additive model: OR = 1.149, 95% CI = 1.045–1.263, p = 0.004; Dominant model: OR = 1.18, 95% CI = 1.049–1.328, p = 0.006; Recessive model: OR = 1.202, 95% CI = 1.013–1.427, p = 0.035) in Asian subgroup.

Conclusion: This meta-analysis suggests that p53 Arg72Pro polymorphism is associated with increased risk of gastric cancer in Asians.     

Association of interleukin-13 SNP rs1800925 with allergic rhinitis risk: A meta-analysis based on 1,411 cases and 3169 controls

Studies investigating the association between interleukin-13 (IL-13) single nucleotide polymorphism (SNP) rs1800925 and allergic rhinitis risk have reported conflicting results. The aim of the present study was to conduct a meta-analysis assessing the possible association of IL-13 SNP rs1800925 with allergic rhinitis risk. The relevant studies were identified through a search of PubMed, Embase, ISI Web of Knowledge and Chinese National Knowledge Infrastructure until December 2011 and selected on the basis of the established inclusion criteria for publications. Five studies were included in the present meta-analysis (1411 cases and 3169 controls). The combined results based on all studies showed that IL-13 SNP rs1800925 was not associated with increased allergic rhinitis risk (T versus C: odds ratio (OR)=1.06, 95% confidence interval (CI)=0.94-1.20; C/T versus C/C: OR=1.12, 95% CI=0.97-1.29; T/T versus C/C: OR=1.00, 95% CI=0.69-1.44; C/T+T/T versus CC: OR=1.10, 95% CI=0.96-1.27; T/T versus C/C+C/T: OR=0.91, 95% CI=0.64-1.31). This meta-analysis supported that IL-13 SNP rs1800925 was not associated with allergic rhinitis.     

Common polymorphisms (rs2241766 and rs1501299) in the ADIPOQ gene are not associated with hypertension susceptibility among the Chinese

The ADIPOQ gene has been implicated in the etiology of hypertension. However, the results have been inconsistent. In this study, a meta-analysis was performed to assess the associations of ADIPOQ polymorphisms with hypertension risk among the Chinese. Published literature from PubMed, CNKI and Wanfang Data were retrieved. Pooled odds ratio (OR) with 95 % confidence interval (CI) was calculated using fixed- or random-effects model. Six studies (1,812 cases and 2,631 controls) for rs2241766 polymorphism and four studies (1,449 cases and 2,175 controls) for rs1501299 polymorphism were identified. A marginally significant association was observed for rs2241766 polymorphism under recessive genetic model (GG vs. GT+TT: OR = 1.22, 95 % CI 1.01-1.48) and for rs1501299 polymorphism under heterogeneous co-dominant model (TG vs. GG: OR = 0.86, 95 % CI 0.75-0.99) and dominant model (TT+TG vs. GG: OR = 0.85, 95 % CI 0.74-0.98). In addition, under other genetic models, there was no significant association for rs2241766 polymorphism (GG vs. TT: OR = 1.20, 95 % CI 0.98-1.48; GT vs. TT: OR = 0.97, 95 % CI 0.85-1.10; GG+GT vs. TT: OR = 1.01, 95 % CI 0.90-1.15) and for rs1501299 polymorphism (TT vs. GG: OR = 0.82, 95 % CI 0.62-1.08; TT vs. TG+GG: OR = 0.87, 95 % CI 0.66-1.14). However, the associations above were not robust by sensitivity analysis. The present meta-analysis indicated the limited evidence of the significant associations between ADIPOQ gene polymorphisms and hypertension susceptibility among the Chinese.     

Genetic polymorphism of interleukin 1β −511C/T and susceptibility to sporadic Alzheimer’s disease: a meta-analysis

A large number of epidemiological studies have been performed to investigate the association between Alzheimer’s disease (AD) risk and interleukin-1β ?511C/T genetic polymorphism, however, inconsistent results have been reported. The effect of the IL-1β ?511C/T polymorphism on AD susceptibility was evaluated by a meta-analysis. Series of databases were researched. 14 studies involving 2640 AD case and 3493 control subjects were identified. The pooled results showed there were no statistical associations of interleukin-1β ?511C/T genetic polymorphism with susceptibility to AD for five analysis models in all subjects. However, obvious heterogeneity among studies was detected. When stratifying for age at onset, ethnicity and geographic distribution of population to explore the original source of heterogeneity, the meta-analysis results based on geographic distribution of population showed the significant difference (CC vs CT, OR 1.26, 95 % CI: 1.03, 1.54, z = 2.25, P = 0.025; CC vs CT+TT, OR 1.24, 95 % CI: 1.03, 1.50, z = 2.24, P = 0.025) only in non-Europe. These findings indicate that the IL-1β ?511C/T polymorphism might be associated with AD risk, and individuals with IL-1β ?511C/C genotype might be at higher risk of AD in non-Europe. Further larger sample research would be warranted to confirm these conclusions.     

Quantitative assessment of the associations between four polymorphisms (FokI, ApaI, BsmI, TaqI) of vitamin D receptor gene and risk of diabetes mellitus

The vitamin D receptor (VDR) gene polymorphisms have been suggested to be involved in the development of diabetes mellitus, including type 1 diabetes (T1DM) and type 2 diabetes (T2DM). However, the results have been inconsistent. In this study, we performed a meta-analysis to investigate the associations. Literature was retrieved from PubMed, ISI Web of Science and Chinese databases. Pooled odds ratios (ORs) with 95?% confidence intervals (CIs) were calculated using a random or fixed effect model. 79 studies (FokI: 22 studies; BsmI: 25 studies; ApaI: 17 studies; TaqI: 15 studies) on T1DM and 44 studies (FokI: 10 studies; BsmI: 10 studies; ApaI: 14 studies; TaqI: 10 studies) on T2DM were included. The results indicated that BsmI polymorphism was associated with an increased risk of T1DM (B vs. b: OR 1.31, 95?% CI 1.10-1.55, P?=?0.002), especially in East Asians (B vs. b: OR 2.57, 95?% CI: 1.55-4.24, P?相似文献