Association between the -2518G/A polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene and hypertension in Tunisian patients

ObjectivesMonocyte chemoattractant protein-1 (MCP-1:CCL2) has been demonstrated to be involved in the pathophysiology of atherosclerosis and hypertension. This study was aimed to investigate whether the single nucleotide polymorphism (SNP) at ?2518 of the MCP-1 gene promoter region is associated to hypertension in a sample of Tunisian population.Design and methodsA total of 290 Tunisian patients with hypertension and 390 normotensive controls were included in the study. The SNP of the MCP-1 gene was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.ResultsA significant difference in genotype distribution and allele frequency was observed between patients and controls. Patients with hypertension had a frequency of 7.2% for the GG genotype, 35.2% for the AG genotype and 57.6% for the AA genotype. Normotensive subjects had a frequency of 3.6% for the GG genotype, 29.7% for the AG genotype and 66.7% for the AA genotype (χ² = 8.02, p = 0.01). The hypertension patient group showed a significant higher frequency of the G allele compared to the controls [0.24 vs. 0.18; OR (95%CI), 1.46 (1.11–1.91), p = 0.004]. The association between the ?2518 G/A polymorphism of MCP-1 gene and hypertension remained significant after adjustment for other well-established cardiovascular risk factors.ConclusionThe present study showed a significant and independent association between the ?2518G/A polymorphism of the MCP-1 gene (presence of G allele) and hypertension in the Tunisian population.     

肺结核患者单核细胞趋化因子蛋白-1基因多态性的检测

目的探讨我国北方地区汉族人群单核细胞趋化因子蛋白（MCP-1）-2518位基因多态性与肺结核的相关性。方法应用聚合酶链反应-序列特异性引物（PCR—SSP）和聚合酶链反应．限制性片段长度多态性（PCR-RFLP）的方法检测我国北方地区汉族136例肺结核患者和152例正常人对照的MCP-1基因．2518位基因多态性。结果肺结核患者中GG基因型的频率明显高于对照组（P〈0．05,OR=1．96）：AA和AG基因型的频率在两组间无统计学差异（P〉O．05）。肺结核患者中等位基因G的频率明显高于对照组（P〈O．05,OR=1．536）。MCP-1基因多态性在初治与复治、耐药与无耐药患者中的频率分布无显著差异（P〉0．05）。结论中国北方地区汉族人群MCP-1基因-2518位点多态性与肺结核具有相关性,GG基因型可能是肺结核的易感因素。     

单核细胞趋化蛋白1基因多态性与2型糖尿病的相关性研究

目的探讨中国西北地区汉族人群中2型糖尿病(T2DM)与单核细胞趋化蛋白1(MCP-1)-2518(A/G)基因多态性的关系。方法测量41例正常对照者和57例2型糖尿病患者相关临床生化指标,并采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术,观察MCP-1-2518(A/G)基因多态性,研究其与2型糖尿病的关系。结果2型糖尿病组与正常对照组的MCP-1等位基因和基因型频率比较差异无统计学意义(P>0.05);多因素Logistic回归分析显示,MCP-1 G等位基因为2型糖尿病的保护因素(OR=0.015,CI=0.005~0.437),且有统计学意义(P<0.05)。结论正常对照组与2型糖尿病组MCP-1-2518(A/G)基因多态性差异无统计学意义,尚不能认为在中国西北汉族人群中MCP-1基因多态性与2型糖尿病之间有相关性,但G等位基因可能为2型糖尿病的保护因素,它的存在降低2型糖尿病的患病率。     

Association of rs2781666 G/T polymorphism of arginase I gene with myocardial infarction in Tunisian male population

ObjectivesThe aim of this study was to investigate the association between rs2781666 G/T polymorphism of arginase I (ARG I) gene and myocardial infarction (MI) in the Tunisian male population.Design and methodsThree hundred eighteen patients with MI and 282 controls were recruited. The rs2781666 G/T polymorphism of ARG I was determined by PCR-RFLP analysis.ResultsPatients had significantly higher frequency of TT genotype compared to controls (10.4% vs. 6.7%; p < 0.001). The MI patients showed higher frequency of T allele compared to the controls [0.33 vs. 0.22; OR (95% CI), 1.79 (1.37–2.34), p < 0.001]. The association between rs2781666 G/T polymorphism of ARG I gene and MI remained significant after adjustment for other well-established risk factors.ConclusionA significant association between rs2781666 G/T polymorphism of ARG I gene and MI was found in the Tunisian male population.     

MCP-1基因多态对2型糖尿病肾病的影响

目的探讨单核细胞趋化蛋白（MCP-1）基因调节区A2518G多态性与2型糖尿病肾病之间的关系。方法运用聚合酶链反应限制性片段长度多态性技术（PCR-RFLP）序技术,检测了单纯糖尿病（DN-）组76例,糖尿病肾病（DN＋）组94例;正常对照（C）82例,252例MCP-1基因调节区A2518G多态性。结果DN＋组MCP-1G／G基因型频率和G等位基因频率高于DN-组、C组,但差异无统计学意义（P〉0．05）。结论MCP-1A2518G多态性与2型糖尿病肾病发病无相关性。     

单核细胞趋化蛋白1基因-2518G／A多态性与新疆哈萨克族人群脑梗死关系的研究

目的探讨单核细胞趋化蛋白1（MCP-1）基因～2518G／A多态性及MCP-1水平与新疆哈萨克族人群脑梗死（CI）的关系及其与脑梗死病情轻重的关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法检测100例新疆哈萨克族脑梗死患者和100例正常对照者MCP-1基因-2518G／A多态性;应用酶联免疫吸附测定（ELISA）方法,检测两组血清中MCp1水平。结果脑梗死组血清MCP-1（178．23±13．56）ng／L明显高于对照组（136．88±15．21）ng／L（t=4．385,P〈0．05）;脑梗死患者中、重型组的MCP-1水平明显高于轻型组（P〈0．05）;重型组的MCP-1水平明显高于中型组（P〈0．05）;脑梗死组GG基因型和G等位基因频率均显著高于对照组（x2=7．439、7．853,P〈0．05）;脑梗死重型组G等位基因频率明显高于轻型组（x2=7．627,P〈0．05）。结论MCP-1基因-2518G／A位点的G等位基因可能是新疆哈萨克族人群脑梗死发病的遗传易感基因,携带G等位基因的个体可能通过上调MCP-1表达而增加脑梗死的发病风险。     

Association between the 2756A> G variant in the gene encoding methionine synthase and myocardial infarction in Tunisian patients

BACKGROUND: Elevated plasma total homocysteine (tHcy), a risk factor for coronary artery disease (CAD), is due to defects in genes encoding for enzymes involved in tHcy metabolism or from inadequate status of vitamins involved in tHcy disposal. Methionine synthase (MS), a vitamin B(12)-dependent enzyme, catalyses the remethylation of homocysteine to methionine using a methyl group donated by 5-methyltetra-hydrofolate, which is the major circulating form of folate in the body. Functional genetic variants of the MS may alter tHcy as well as folate levels which are independent risk factors for CAD. The influence of a common genetic polymorphism 2756A>G of the MS gene (MTR) on plasma tHcy, folate and vitamin B(12) levels and its relation to the risk of myocardial infarction (MI) in a Tunisian case-control study was investigated. METHODS: A total of 321 Tunisian patients with MI and 343 healthy controls were included in the study. The 2756A>G variant of the MTR was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. Plasma tHcy was assessed with a fluorescent polarising immunoassay method. Plasma vitamin B(12) and folate were determined by microparticular enzyme immunoassay and ion-capture, respectively. RESULTS: A significant difference in genotype distribution and allele frequency was observed between patients and controls. Patients with MI had a frequency of 1.9% for the GG genotype, 26.2% for the AG genotype and 72% for the AA genotype. Controls had a frequency of only 0.9% for the GG genotype, 18.7% for the AG genotype and 80.5% for the AA genotype (chi(2)=6.97, p=0.03). The MI patient group showed a significant higher frequency of the G allele compared to controls (0.149 vs. 0.101; OR 1.55; 95% CI 1.10-2.18; p=0.008). The association between the 2756A>G variant in the gene encoding MS and MI was no longer significant after adjustment for other well-established risk factors. When clinical and laboratory values were compared amongst genotypes in the study groups, no significant differences were noted. CONCLUSIONS: The present study showed a significant but not independent association between the 2756A>G polymorphism of the MTR (presence of G allele) and MI in the Tunisian population.     

The paraoxonase L55M and Q192R gene polymorphisms and myocardial infarction in a Tunisian population

ObjectivesIn the present study, we examined a possible association between the PON1 Q192R and L55M polymorphisms and myocardial infarction (MI) in a sample of the Tunisian population.Design and methodsThree hundred and ten patients with MI and 375 controls were recruited. Paraoxonase gene polymorphisms at codon 192 and 55 were analyzed by PCR-RFLP.ResultsGenotype distributions and allele frequencies of L55M were similar among the control and MI groups. For the Q192R polymorphism patients with MI had significantly higher frequency of the RR genotype compared to controls [17.1% vs. 10.9%; OR (95% CI), 1.93 (1.24–3.02); p = 0.004]. The MI patient group showed a significantly higher frequency of the R allele compared to the controls [38% vs. 30%; χ² = 10.74, p = 0.001]. The association between the PON1 Q192R polymorphism and MI remained significant after adjustment for other well-established cardiovascular risk factors.ConclusionsThe present study showed a significant and independent association between the PON1 Q192R polymorphism (presence of R allele) and MI in the Tunisian population.     

Monocyte chemoattractant protein (MCP-1) A-2518G gene polymorphism in stroke patients with different comorbidities

Objectives

The aim of our study was to assess the effect of A-2518G polymorphism in the monocyte chemoattractant protein-1 gene on development of stroke.

Design and methods

A total of 194 patients with stroke and 320 healthy controls were genotyped for the MCP-1 gene −2518 polymorphism.

Results

There was a significant difference in genotype frequencies between ischemic stroke patients and controls (p = 0.01). Stroke patients were subdivided according to gender, presence of renal disease, small-vessel disease, diabetes, atherosclerosis and hyperlipidemia. There were differences in genotype frequencies between stroke patients with atherosclerosis and controls (p = 0.03), and in allele frequencies between diabetic patients and controls (p = 0.04). In hyperlipidemia, the OR 2.33 for the GG genotype may be due to stroke, because it was found only vs. controls and not vs. group without hyperlipidemia.

Conclusions

Our results demonstrate an association between the polymorphism in the regulatory region of MCP-1 gene and susceptibility to ischemic stroke.     

Association of the insertion/deletion gene polymorphism of the apolipoprotein B signal peptide with myocardial infarction in Tunisian patients

BACKGROUND: Numerous polymorphisms of the apolipoprotein B (APOB) gene have been described. Particularly, the insertion/deletion (Ins/Del) polymorphism located in the coding part of the signal peptide of apoB, associated with modification of lipid concentrations and the risk of coronary artery disease and/or myocardial infarction (MI), has been reported in the general population. Moreover, conflicting results emerge from the literature and suggest that the effect is context-dependent. In the present study, the first investigation of the Ins/Del polymorphism of the APOB gene in Tunisian patients with MI, we examined a possible association between this polymorphism and MI in a subgroup of the Tunisian population. METHODS: A total of 318 Tunisian patients with MI and 368 healthy controls were included in the study. Genomic DNA was extracted from white blood cells, and the Ins/Del polymorphism was determined by electrophoresis in polyacrylamide gels after PCR amplification. A binary logistic regression analysis was performed to test how the association between MI and Ins/Del polymorphism is independent from confounding factors. RESULTS: A significant difference in genotype distribution and allele frequency was observed between patients and controls. Patients with MI had a frequency of 7.2% for the Del/Del genotype, 39.6% for the Ins/Del genotype, and 53.1% for the Ins/Ins genotype. Controls had a frequency of 3.0% for the Del/Del, 32.1% for the Ins/Del and 64.9% for the Ins/Ins genotype (chi2=12.93, p=0.002). The MI patient group showed a significantly higher frequency of the Del allele compared to controls (27.1% vs. 19.1%; chi2=12.50, p=0.0004). In comparison to the Ins/Ins homozygotes, the odds ratio (95% confidence interval) for MI was 1.51 (1.09-2.07) for Ins/Del heterozygotes and 2.95 (1.40-6.22) for Del/Del homozygotes. In multivariate analysis, age (p=0.001), smoking (p<0.001), hypertension (p=0.001), diabetes mellitus (p<0.001), and dyslipidemia (p=0.01) were independent correlates of the presence of MI, whereas the Ins/Del polymorphism (p=0.330) was not an independent predictor of MI. CONCLUSIONS: The present study shows a significant but not independent association between the Ins/Del polymorphism of the APOB gene and MI in the Tunisian population.     

ADRB2基因多态性与aSAH迟发性脑血管痉挛的 关联性研究

目的:探讨中国北方汉族人群中,动脉瘤性蛛网膜下腔出血(aSAH)后迟发性脑血管痉挛(DCVS)与β2肾上腺素能受体(ADRB2)基因多态性的关系。方法:aSAH患者206例纳入研究,按照是否合并DCVS分为DCVS组128例和无DCVS组78例,采用聚合酶链反应-限制性片段长度多态性法检测ADRB2基因A46G位点和C79G位点多态性。结果:单因素分析结果显示ADRB2基因A46G位点等位基因模型(A vs.G)和显性基因模型(A/A vs.A/G+G/G)均与DCVS发生相关;多因素Logistics回归分析结果显示ADRB2基因+46位点等位基因G和基因型(A/G+G/G)与aSAH患者发生DCVS的危险因素(OR=1.414,95%CI:1.142~4.817,P=0.039;OR=1.337,95%CI:1.076~3.191,P=0.045);C79G位点各基因模型与DCVS相关性均无统计学意义。结论:对于中国北方汉族aSAH患者,ADRB2基因A46G位点多态性与DCVS发生相关。     

eNOS基因G894T多态性与糖尿病肾病易感性的荟萃分析

目的:系统评价内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)基因G894T多态性与糖尿病肾病(diabetic nephropathy,DN)易感性之间的关系。方法:全面检索建库以来至2019年6月与eNOS基因G894T多态性及DN易感性相关的文献,通过纽卡斯尔渥太华(Newcastle-Ottawa Scale,NOS)标准对纳入文献进行质量评价。采用Stata 15.0进行统计学分析,通过计算发病风险比值比(odds ratio,OR)及95%置信区间(confidence interval,CI)来评估eNOS基因G894T多态性与DN易感性之间的关系。结果:共纳入29项病例对照研究,包含实验组5345例,对照组4827例。分析结果显示eNOS基因G894T多态性可显著增加DN发病风险[等位基因模型T vs G:OR=1.39(95%CI:1.19~1.64),P<0.001;纯合子模型TT vs GG:OR=1.34(95%CI:1.02~1.77),P=0.038;显性遗传模型TT+GT vs GG:OR=1.48(95%CI:1.21~1.81),P<0.001;隐性遗传模型TT vs GG+GT:OR=1.30(95%CI:1.04~1.63),P=0.022;杂合子模型TG vs GG:OR=1.43(95%CI:1.17~1.75),P=0.001]。结论:eNOS基因G894T多态性可明显增加DN易感性。     

中国人群miR-146a基因rs2910164多态性与缺血性脑卒中易感性的meta分析

目的探讨中国人群miR-146aC>G（rs2910164）位点单核苷酸多态性与缺血性脑卒中遗传易感性。方法检索2015年12月前中国生物医学文献数据库（CBM）、中国期刊全文数据库（CNKI）、维普中文科技期刊数据库（VIP）、万方数据库及PubMed、Ovid、Cochrane Library、EMBASE等数据库,搜集有关中国人群miR-146aC>G（rs2910164）位点多态性与缺血性脑卒中（IS）研究,采用NOS工具评价纳入相关性研究的质量,提取科学合理有效数据,采用Review Manager 5.0软件进行Meta分析。结果共纳入6篇文献,共有IS患者1945例,健康对照者2456例,Meta分析尚未发现miR146a rs2910164 G/C基因多态性与缺血性脑卒中易感性具有相关性：基因型G vs C：OR=0.97,95%CI（0.89~1.06）,P=0.06;基因型GG vs CC：OR=0.99,95%CI（0.82~1.18）,P=0.88;基因型GC vs CC：OR=1.02,95%CI（0.90~1.17）,P=0.75;基因型GG+GC vs CC：OR=1.01,95%CI（0.90~1.15）,P=0.82。结论本研究尚未发现中国人群miR-146aC>G（rs2910164）位点多态性与缺血性脑卒中易感性之间具有相关性。     

中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感性的Meta 分析

目的 探讨中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感的相关性.方法 检索2011年11月前中国生物医学文献数据库(CBM)、中国期刊全文数据库(CNKI)、万方数据库、维普中文科技期刊数据库(VIP)及Medline、Cochrane Library、Embase、Springer、Ovid等数据库,收集有关中国人群脂联素基因-11377C/G多态性与2型糖尿病的相关性研究;评价纳入研究质量,提取有效数据,采用Review Manager5.0软件进行Meta分析.结果 共纳入12组研究中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病的相关性的病例-对照研究,2型糖尿病病例2 598例,对照4 508例.Meta分析发现,脂联素基因启动子区-11377C/G位点C/G多态性与2型糖尿病相关性中G等位基因与C等位基因[OR=1.14,95%CI(1.03,1.25),P=0.009]、基因型(CG+GG)与CC[OR=1.19,95%CI(1.06,1.35),P=0.004]、基因型CG与CC[OR=1.14,95%CI(1.00,1.29),P=0.05]、基因型GG与CC[OR=1.34,95%CI(1.06,1.71),P=0.02]均具有统计学意义差异.结论 中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感性存在相关性.     

MICA基因多态性与结直肠癌的易感关联性研究

目的研究MICA等位基因多态性与结直肠癌易感性之间的关联性。方法采用PCR-SSP和PCR-SBT方法对样本MICA等位基因的多态性进行检测。结果结直肠癌患者中检出7种MICA等位基因;和对照组相比较,结直肠癌患者组中MICA*010等位基因分布频率更高,可能是结直肠癌的易感基因(30.0%vs 6.2%,OR=6.43,95%CI:3.51-11.76,Pc0.05),MICA*008和MICA*045等位基因分布频率更低,可能是保护基因(MICA*008:14%vs 25.4%,OR=0.48,95%CI:0.29-0.78,Pc0.05;MICA*045:2%vs 12.9%,OR=0.14,95%CI:0.05-0.40,Pc0.05)。结论 MICA等位基因多态性与结直肠癌的易感性间存在关联性。     

定量评估PD-1多态性rs10204525与中国人上消化道癌症风险的相关性分析

目的系统评估PD-1多态性rs10204525和中国人上消化道癌症（UGIC）风险的相关性。 方法通过计算机检索PubMed、MEDLINE和中国知网等数据库,共纳入4项研究（2536例UGIC病例和3491例对照人群）,应用Stata统计包12.0进行荟萃分析,采用95%置信区间（CI）的合并的比值比（OR）评价PD-1多态性rs10204525与中国人UGIC风险的相关性。 结果荟萃分析显示：rs10204525在纯合子（GG vs AA：OR=0.81,95% CI=0.58~1.15,P=0.236）、杂合子（AG vs AA：OR=0.97,95% CI=0.87~1.08,P=0.523）、显性（AG＋GG vs AA：OR=0.95,95% CI=0.86~1.05,P=0.333）、隐性（GG vs AG＋AA：OR=0.82,95% CI=0.58~1.16,P=0.263）和等位（T vs C：OR=0.95,95% CI=0.88~1.03,P=0.211）基因模型中,与中国人UGIC风险没有相关性。 结论PD-1的多态性rs10204525与中国人UGIC风险没有显著相关性,这个结论在纯合子、杂合子、显性、隐性和等位基因模型中均成立。     

CYP2B6基因多态性与成年人急性髓系白血病易感性的相关性

目的 探讨CYP2B6基因多态性与成年人急性髓系白血病(AML)易感性的相关性.方法 选取87例首次确诊AML的患者作为AML组,191例健康体检者作为对照组,运用Sanger测序法对CYP2B6785A>G与516G>T两个单核苷酸多态性位点进行基因分型.结果 CYP2B6785A>G位点在显性模型下(AG+GG v...     

瘦素受体基因Gln223Arg多态性与高血压患病风险的meta分析

目的采用meta分析的方法综合评价瘦素受体基因Gln223Arg多态性与高血压发病的相关性。方法通过检索中国学术期刊全文数据库(CNKI)、Google Scholar和Pubmed等,收集1999年1月至2013年6月国内外公开发表的关于瘦素受体基因Gln223Arg多态性与高血压关系的病例对照研究,应用meta分析方法对多个研究进行数据合并与分析。结果共纳入14篇病例对照研究文献,其中高血压患者2 751例,对照组2 425例,中国人(黄种人)2 337例,白种人414例。Meta分析结果显示,显性模型携带GA+AA基因型的人群发生高血压的风险是GG基因型的1.82倍(OR=1.82,95%CI=1.44~2.30,P=0.000);按种族进行亚组分析,白种人显性模型携带GA+AA基因型的人群发生高血压的风险是GG基因型的1.38倍(OR=1.38,95%CI=0.73~2.63,P=0.324),中国人显性模型携带GA+AA基因型的人群发生高血压的风险是GG基因型的1.88倍(OR=1.88,95%CI=1.47~2.42,P=0.000)。隐性模型携带AA基因型的人群发生高血压的风险是GA+GG基因型的1.23倍(OR=1.23,95%CI=1.04~1.45,P=0.015);按种族进行亚组分析,白种人隐性模型携带AA基因型的人群发生高血压的风险是GA+GG基因型的0.75倍(OR=0.75,95%CI=0.56~1.01,P=0.058),中国人隐性模型携带AA基因型的人群发生高血压的风险是GA+GG基因型的1.54倍(OR=1.54,95%CI=1.26~1.89,P=0.000)。等位基因A可能是高血压发病的危险因素(OR=1.62,95%CI=1.46~1.80,P=0.000)。结论人群中瘦素受体基因Gln223Arg多态性的AA、GA基因型和等位基因A与高血压发病具有相关性,尤其在中国人中存在明显相关。     

中国人群脂联素基因+276G/T位点多态性与T2DM易感性的Meta分析

目的 探讨中国人群脂联素基因+276G/T位点多态性与2型糖尿病(T2DM)的相关性.方法 检索2011年8月前中国知网、维普中文科技期刊全文数据库、中国万方数据库、中国学位论文全文数据库和中国重要会议论文全文数据库及Medline、Cochrane Library、Embase、Springer、Ovid等数据库,收集有关中国人群脂联素基因+276G/T位点多态性与T2DM相关性研究的文献;评价纳入研究质量,提取有效数据,采用Review Manager 5.0软件进行Meta分析.结果 共纳入11项研究中国人群脂联素基因+276G/T位点多态性与T2DM相关性的病例对照研究;T2DM患者1 697例,健康对照者1 341例.Meta分析结果显示,脂联素基因+276G/T位点G/T多态性与T2DM的相关性中T等位基因与G等位基因(OR=0.83,95% CI为0.65～1.05,P=0.12)、基因型(GT+TT)与GG(OR=0.82,95% CI为0.60～1.12,P=0.20)、基因型GT与GG(OR=0.93,95%CI为0.63～1.38,P=0.72)、基因型TT与GG(OR=0.81,95%CI为0.46～1.42,P=0.46)比较,差异均无统计学意义.结论 中国人群脂联素基因+276G/T位点多态性可能与T2DM易感性无关.