中国四川人群DNA修复基因X射线修复交叉互补基因1-Arg399Gln多态性与鼻咽癌风险的关系

目的:观察中国四川人群X射线修复交叉互补基因1-Arg399Gln多态性,分析其与鼻咽癌发病风险的关系。方法:实验于2005-11/2006-04在泸州医学院分子生物学实验室完成。采用病例-对照研究方法,病例组和对照组均不采取任何干预措施,聚合酶链反应-限制性片段长度多态性检测220例鼻咽癌患者及性别、年龄(50±4)岁相匹配的250例正常人群X射线修复交叉互补基因1-Arg399Gln基因型频率分布。通过χ2检验、非条件Logistic回归分析相对危险度近似估计值比值比,以估计各研究因素与鼻咽癌发病风险的关系,及基因多态性与环境是否存在交互作用,采用SPSS12.0软件包完成。结果:①病例组和对照组Arg399Gln基因型Arg/Arg,Arg/Gln和Gln/Gln频率分布差异无显著性意义。②Arg399Gln多态性未增加个体患鼻咽癌的风险(P>0.05,OR=0.814,95%CI=0.325～2.037和OR=0.830,95%CI=0.254～2.710)。③EB病毒感染和X射线修复交叉互补基因1-Arg399Gln多态性存在交互作用(Wald=4.391,P=0.036),基因型为Arg/Gln和Gln/Gln同时伴有EB病毒感染的个体患鼻咽癌的风险增加。结论:X射线修复交叉互补基因1-Arg399Gln多态性与鼻咽癌的发生无相关性,但与EB病毒感染存在交互作用,基因型为Arg/Gln和Gln/Gln同时伴有EB病毒感染的个体患鼻咽癌的风险增加。     

EB病毒感染与XRCC1-Arg399Gln基因多态性在鼻咽癌发生中的交互作用

目的评估XRCCl-Arg399 Gln单核苷酸多态性在鼻咽癌发病中的风险,研究XRCCl-Arg399 Gln单核苷酸多态性与EB病毒感染的交互作用。方法采用病例对照研究,收集90名经病理确诊的鼻咽癌患者作为病例组和75名在我院进行健康体检的病人作为对照,并按照性别和年龄1∶1配对,提取全血基因组DNA进行PCR扩增,对扩增产物再进行测序PCR反应,最后分析得出XRCC1 Arg399Gln的基因型。结果 EB病毒感染能增加鼻咽癌发病风险,VCA-IgA、EA-IgA和Rta-IgG抗体三项阳性时可以增加鼻咽癌发病风险,但单项VCA-IgA阳性是鼻咽癌发病的最强危险因素(OR=26.526,95%CI:11.190~62.884),单因素条件Logistic回归分析显示,与携带XRCC-1 Arg399Gln的AA基因型相比,携带XRCC-1 Arg399Gln的GG基因型可增加鼻咽癌发病风险(OR=4.3,95%CI:1.184~15.618);XRCC-1 Arg399Gln的GA基因型与VCAIgA存在交互作用(OR=20.755,95%CI:5.312~81.094)。结论 XRCC-1基因的Arg399Gln基因多态性能够增加患鼻咽癌的风险,且Arg399Gln的GA基因型与EB病毒感染具有一定的交互作用。     

白细胞介素16基因多态性与广西地区汉族女性膝关节原发性骨性关节炎的易感关联

背景:目前的基因研究表明,膝关节原发性骨性关节炎的发病风险与白细胞介素类基因有关联性.目的:观察白细胞介素16基因多态性与女性膝关节原发性骨性关节炎的相关性.方法:收集71例Kellgren/Lawrence评分大于2分的膝关节原发性骨性关节炎患者及85例健康对照的广西汉族女性的静脉血标本,采用聚合酶链反应-限制性片段长度多态性技术对两组白细胞介素16的 rs11556218,rs4072111,rs4778889多态位点进行基因分型,计算两组基因型和等位基因的分布差异,分析白细胞介素16基因多态性与膝骨性关节炎的易感关联.结果与结论:两组3个SNP位点的各基因频数在两组中的分布符合Hardy-Weinberg平衡,等位基因比较差异无显著性意义.单个位点显性模式非条件Logistic回归显示,在rs11556218的3种基因型的比较中,T/G基因型较T/T基因型的膝原发性骨性关节炎的发病风险显著减低(OR=0.41,95%CI:0.21~0.83,P=0.02);在rs4072111中,C/T基因型比C/C基因型的发病风险显著增加(OR=2.36,95%CI:1.19~4.68,P=0.03).结果证实,广西地区汉族女性人群白细胞介素16的遗传变异与膝关节原发性骨性关节炎的易感性关联.     

脂氧酶12启动子区多态与食管鳞癌发病风险

目的本研究旨在探讨位于LOX12基因启动子区的-183G〉A单核苷酸多态与食管鳞癌发病风险之间的关系。方法以聚合酶链反应-限制性片段长度多态分析方法,检测了119个食管癌患者和119个无肿瘤正常对照的基因型。以logistic多因素回归模型计算各基因型的食管癌风险。结果 LOX12-183 GA基因型患食管鳞癌的风险比-183 GG基因型高约1倍（OR=1.93;95%CI=1.01-3.50;P=0.02）。LOX12-183纯合AA基因型携带者患食管鳞癌的风险比携带纯合GG基因型者高1.68倍（OR=2.68,95%CI=1.33-5.65;P〈0.01）。LOX12-G〉A多态和食管癌发病风险之间存在剂量反应效应。结论 LOX12启动子区-183G〉A变异是食管癌的重要遗传易感因素,在食管鳞癌的发生发展中发挥着重要的作用。     

TNF-TNF-α-308G/A-308G/A多态性与炎症性肠病易感性的Metaeta分析

目的系统评价肿瘤坏死因子-α(TNF-α)-308G/A多态性与炎症性肠病发病风险的相关性。方法计算机检索Pub Med、EMbase、CNKI、Wan Fang Data、CBM和VIP数据库,查找关于TNF-α-308G/A多态性与炎症性肠病易感性的病例-对照研究,检索时限均从建库至2015年1月25日。由2位评价员按照纳入与排除标准独立筛选文献、提取资料并评价纳入研究的方法学质量后,采用Rev Man 5.2和Stata 12.0软件进行Meta分析。结果最终纳入20个研究,共计2 860例患者和5 033例对照。Meta分析结果显示:与基因型GG比较,基因型GA、AA、GA+AA会增加溃疡性结肠炎的发病风险[GA vs.GG:OR=1.45,95%CI(1.02,2.07),P=0.04;AA vs.GG:OR=2.01,95%CI(1.32,3.05),P=0.001;GA+AA vs.GG:OR=1.51,95%CI(1.07,2.13),P=0.02];与基因型GA+GG比较,基因型AA会增加溃疡性结肠炎的发病风险[AA vs.GA+GG:OR=1.92,95%CI(1.26,2.91),P=0.002];等位基因A与溃疡性结肠炎发病风险无关。与基因型GG比较,基因型AA会增加克罗恩病的发病风险[AA vs.GG:OR=1.49,95%CI(1.07,2.08),P=0.02];与基因型GA+GG比较,基因型AA会增加克罗恩病的发病风险[AA vs.GA+GG:OR=1.50,95%CI(1.08,2.09),P=0.02]。基因型GA、GA+AA及等位基因A与克罗恩病发病风险无关。按人种来源的亚组分析显示,欧洲人TNF-α-308G/A基因多态性与炎症性肠病相关。结论现有证据表明,TNF-α-308G/A基因多态性与炎症性肠病易感性相关,基因型GA、AA、GA+AA均会增加溃疡性结肠炎的发病风险;基因型AA会增加克罗恩病的发病风险。鉴于纳入研究数量有限,上述结论尚需开展更多研究予以验证。     

白细胞介素16基因多态性与广西地区汉族女性膝关节原发性骨性关节炎的易感关联

背景：目前的基因研究表明,膝关节原发性骨性关节炎的发病风险与白细胞介素类基因有关联性。目的：观察白细胞介素16基因多态性与女性膝关节原发性骨性关节炎的相关性。方法：收集71例Kellgren/Lawrence评分大于2分的膝关节原发性骨性关节炎患者及85例健康对照的广西汉族女性的静脉血标本,采用聚合酶链反应-限制性片段长度多态性技术对两组白细胞介素16的rs 11556218,rs 4072111,rs 4778889多态位点进行基因分型,计算两组基因型和等位基因的分布差异,分析白细胞介素16基因多态性与膝骨性关节炎的易感关联。结果与结论：两组3个SNP位点的各基因频数在两组中的分布符合Hardy-Weinberg平衡,等位基因比较差异无显著性意义。单个位点显性模式非条件Logistic回归显示,在rs 11556218的3种基因型的比较中,T/G基因型较T/T基因型的膝原发性骨性关节炎的发病风险显著减低（OR=0.41,95%CI：0.21～0.83,P=0.02）;在rs 4072111中,C/T基因型比C/C基因型的发病风险显著增加（OR=2.36,95%CI：1.19～4.68,P=0.03）。结果证实,广西地区汉族女性人群白细胞介素16的遗传变异与膝关节原发性骨性关节炎的易感性关联。     

C7基因调节区遗传变异对结直肠癌易感性的影响研究

目的 探讨补体7(C7)基因遗传变异与结直肠癌易感性的关系。方法 利用GEPIA数据库分析基因C7在结直肠癌组织与正常组织中的表达差异;利用TIMER数据库分析C7表达及拷贝数变异与结直肠癌免疫细胞浸润的相关关系。采用病例对照研究分析C7遗传变异对结直肠癌发病风险的影响。使用PCR-限制性片段长度多态性分析对C7 rs1061429和rs1376178单核苷酸多态性（SNP）进行基因分型。使用非条件logistic回归计算比值比（OR）和95%置信区间（CI）,分析C7rs1061429和rs1376178遗传变异与结直肠癌易感性的关系。结果 与结直肠正常组织相比,C7在结直肠癌组织中的表达显著降低（P<0.05）。C7表达及拷贝数变异可影响结直肠癌免疫细胞浸润。与C7 rs1061429 CC基因型携带者相比,CA基因型携带者可显著增加直肠癌发病风险（OR=1.42,95%CI:1.08～1.86）。与C7 rs1376178 CC基因型携带者相比,CA基因型携带者的结肠癌发病风险增加（OR=1.50,95%CI:1.06～2.10）,CA或AA基因型携带者有较高的直肠癌发病风...     

脂联素基因-11377C/G多态性与缺血性脑卒中的相关性

[目的]探讨脂联素基因(ADIPOQ)-11377C/G多态性与缺血性脑卒中的相关性.[方法] 用聚合酶链式反应-限制性片段长度多态性方法检测302例缺血性脑卒中患者和338例健康对照者的ADIPOQ基因-11377C/G位点的基因型.[结果]①病例组的GG基因型和G等位基因频率明显高于对照组(P=0.034和P=0.010).②GG基因型携带者发生缺血性脑卒中的危险是CC基因型携带者的2.062倍(95%CI:1.145~3.715;P=0.016),校正各种混杂因素后发病危险度为2.165倍(95%CI:1.116~4.197;P=0.022).③-11377C/G位点与动脉粥样硬化性脑梗死的发病有关,与腔隙性脑梗死的发病无关.[结论] ADIPOQ基因的-11377C/G位点的GG基因型和G等位基因可能增加缺血性脑卒中的发病风险,特别是动脉粥样硬化性脑梗死的发病风险,其可能是缺血性脑卒中的危险因素.     

维生素D受体遗传变异与急性脑卒中的关联

目的探讨维生素D受体(VDR)基因遗传多态与急性缺血型脑卒中发病风险的相关性。方法采用Taq ManPCR方法检测VDR基因FokI和ApaI位点基因型分布情况,比较不同基因型与急性缺血型脑卒中发病的相关性。结果 FokI位点的Ff可以显著增加个体急性脑卒中的发病风险(调整OR=1.65,95%CI=1.18~2.32);与fa单倍型相比,Fa单倍型在急性脑卒中组的分布显著低于健康对照组(调整OR=0.66,95%CI=0.51~0.85)。结论 VDR基因遗传变异与急性缺血型脑卒中的发病风险存在关联。     

系统评估多个基因多态性位点与鼻咽癌易感性关联的Meta分析

目的统的评估基质金属蛋白酶(MMP)-1基因1G/2G、MMP-2基因-1306C>T、CYP2E1基因RsaⅠ和MDM2基因309T>G多态性位点与鼻咽癌易感性的关联。方法检索Pub Med、万方和CNKI数据库,筛得1G/2G、-1306C>T、RsaⅠ和309T>G基因多态性与鼻咽癌易感性关联的病例-对照研究。采用Stata 12.0软件对纳入各项研究进行统计学分析。结果本文共纳入13项病例-对照研究,包含病例组3 752例,对照组4 526例。Meta分析结果提示,MMP-2基因-1306C>T多态性位点与鼻咽癌易感性呈显著正相关:B vs.A:OR=1.657,95%CI:1.316~2.086,P=0.000;BB vs.BA+AA:OR=1.710,95%CI:1.342~2.179,P=0.000。此外,我们还发现CYP2E1基因RsaⅠ多态性位点与鼻咽癌易感性呈显著正相关:BB vs.AA:OR=3.218,95%CI:1.622~6.385,P=0.001;BB vs.BA+AA:OR=3.468,95%CI:1.760~6.834,P=0.000。然而,MMP-1基因1G/2G和MDM2基因309T>G多态性位点与鼻咽癌易感性无关。在以种族为依据的亚组分析中,可发现MDM2基因309T>G多态性位点与亚洲人群鼻咽癌易感性无关。结论 MMP-2基因-1306C>T和CYP2E1基因RsaⅠ多态性位点与鼻咽癌易感性呈显著正相关,可作为该疾病诊断和筛查的潜在靶点。     

XRCC3基因Thr241Met(rs861539)位点单核苷酸多态性与鼻咽癌的相关性

目的:研究XRCC3基因Thr241Met (C/T,rs861539)位点多态性与广东鼻咽癌的相关性.方法:应用PCR方法对127例广州鼻咽癌患者和117例健康对照人群的DNA标本rs861539位点进行扩增、纯化及测序,再结合人群临床资料进行统计学分析.结果:rs861539 C＞T,其中杂合型C/T基因型频率在对照组中分布较高(OR=0.473,95％ CI=0.244～ 0.917,P＜0.05);经年龄及性别分层分析,杂合子在年龄≤30岁(OR＝0.071,95％ CI=0.007～0.722,P＜0.05)以及男性(OR=0.469,95％ CI=0.232～0.947,P＜0.05)人群中在对照组分布较高;而在年龄＞ 30岁以及女性人群中两组间分布均无统计学差异.纯和突变型T/T基因型在两组间分布差异无显著性(OR=1e9,95％ CI=0～∞,P＞0.05),经年龄及性别分层分析,在两组间仍无统计学差异.结论:XRCC3基因Thr241Met (C/T,rs861539)基因多态性可能与鼻咽癌易感性无显著相关性.     

Matrix metalloproteinase-1 (-1607) 1G/2G and -9 (-1562) C/T promoter polymorphisms: susceptibility and prognostic implications in nasopharyngeal carcinomas

BACKGROUND: Matrix metalloproteinases (MMPs) are proteolytic enzymes that play important roles in tumor invasion and metastasis by degrading extracellular matrix components. Genetic variations in promoter regions of MMP genes, affecting their expression, have been associated with susceptibility to cancers. The aim of this study was to investigate the susceptibility and prognostic implications of the MMP-1 (-1607) 1G/2G and MMP-9 (-1562) C/T polymorphisms in nasopharyngeal carcinomas. METHODS: The variation of the MMP-1 and MMP-9 promoter regions in 174 patients with NPC and 171 healthy control subjects was investigated. Association of the clinico-pathologic parameters and the genetic markers with the rates of the nasopharyngeal carcinoma-specific overall survival and the disease-free survival were assessed using univariate and multivariate analyses. RESULTS: No association was found between genetic variation in MMP-9 and the risk of NPC occurrence. In contrast, a significantly increased risk of NPC was associated with the homozygous MMP-1 (-1607) 2G2G genotype (OR=2.27; p=0.02). A significant association was also found between the 2G2G genotype and the aggressive forms of NPC as defined by large tumor size (T3-T4), lymph node metastasis and advanced stages (III-IV) at the time of diagnosis. Moreover, an association was ascertained between the MMP-1 polymorphism and gender (OR=2.90; p=0.02). In univariate analysis, the MMP-1 (-1607) 2G allele showed a significant association with reduced disease-free survival for NPC patients (p=0.03). CONCLUSIONS: The genetic variation in MMP-1 may represent a marker for the increased risk of nasopharyngeal carcinoma.     

Endothelin-converting enzyme-1b C-338A polymorphism is associated with the increased risk of coronary artery disease in Chinese population

BACKGROUND: Endothelin-converting enzyme-1 (ECE-1), the key enzyme responsible for endothelin-1 generation, has been linked to coronary artery disease (CAD). Recently, a genetic polymorphism (ECE-1b C-338A) located in ECE-1 gene promoter was identified. However, it is unclear whether this polymorphism is associated with the risk of CAD. METHODS: We conducted a study with CAD patients and controls matched by age and sex to examine the prevalence of ECE-1b C-338A polymorphism in CAD. RESULTS: The frequencies of ECE-1b-338CC, CA, and AA genotypes in cases (40.1%, 42.2%, and 17.7%) were significantly different from those of controls (50.6%, 40.5%, and 8.9%, chi2=9.989, P=0.007). Subjects with the variant genotypes (CA+ AA) had a 58% increased risk of CAD relative to CC carriers (adjusted OR=1.58, 95% CI=1.07-2.32). Furthermore, the adjusted OR of AA genotype for CAD was 2.33 (95% CI=1.25-4.35). In stratified analyses, the A allele was significantly associated with increased risk of CAD in female (adjusted OR=2.86, 95% CI=1.40-5.84) and subjects with age >or= 64 y (adjusted OR=2.96, 95% CI=1.73-5.08). Moreover, the frequency of patients with variant genotypes increased gradually from single- to triple-vessel disease although without statistical significance (P=0.069 for trend). CONCLUSION: Our results suggested that ECE-1b-338C to A variant might be associated with increased risk of CAD in Chinese population.     

Functional vascular endothelial growth factor -2578 C/A polymorphism in relation to nasopharyngeal carcinoma risk and tumor progression

BACKGROUND: Vascular endothelial growth factor (VEGF) is a mitogen for endothelial cells and a potent regulator of angiogenesis and inflammatory processes in nasopharyngeal carcinomas. In the current report, we designed a case-controlled study to evaluate whether a genetically predetermined variation in the VEGF expression may affect susceptibility and prognosis. METHODS: A PCR and restriction fragment length polymorphism analysis was used to determine the variation of the -2578 C/A promoter region in a Tunisian population of patients with nasopharyngeal carcinomas (NPC) and in healthy control subjects. RESULTS: A significantly risk of NPC was observed for carriers of VEGF -2578 C allele (OR=1.4; P=0.03). Regarding prognostic indicators, a significant association was found between -2578 C allele carriers and the aggressive forms of NPC as defined by large tumor size (OR=2.29; P=0.0002) and advanced tumor stages (OR=1.97; P=0.02). Moreover, an association was ascertained between the VEGF polymorphism and gender. CONCLUSIONS: This is the first report on the studies of functional VEGF polymorphisms in NPC and our preliminary data suggest that this genetic variant may play a role in mediating susceptibility to NPC, as well as, in neoplastic progression, supporting our hypothesis for VEGF involvement in NPC etiology.     

The +276 G/T single nucleotide polymorphism of the adiponectin gene is associated with coronary artery disease in type 2 diabetic patients

OBJECTIVE: Two single nucleotide polymorphisms (SNPs) at the adiponectin locus (+45T>G and +276G>T) have been associated with low circulating adiponectin levels, insulin resistance, and type 2 diabetes. We investigated whether these genetic markers are determinants of coronary artery disease (CAD) in type 2 diabetic patients. RESEARCH DESIGN AND METHODS: A total of 376 consecutive type 2 diabetic patients were studied: 142 case subjects with coronary stenosis >50% or previous myocardial infarction and 234 control subjects with no symptoms, no electrocardiogram (ECG) signs of myocardial ischemia, and a normal ECG stress test (n = 189) and/or (n = 45) with coronary stenosis T polymorphism is a determinant of CAD risk in type 2 diabetic patients. This marker may assist in the identification of diabetic individuals at especially high risk of CAD, so that preventive programs can be targeted at these subjects.     

北京地区汉族人群胃癌发生与EBVA73基因外显子区A157154C多态性的相关性研究

目的 探讨北京地区EBV A73基因外显子区A157154C多态性与胃癌的相关性。方法 采用病例-对照研究方法,以聚合酶链反应(PCR)联合DNA测序检测29例EBV IgM+胃癌患者和40例同期健康体检者EBV A73基因外显子157154 nt位点的基因型和等位基因频率。结果 胃癌组A157154C C等位基因频率和CC基因型频率明显高于对照组(χ²=8.997,P=0.003; χ²=6.801,P=0.033)。C等位基因携带者患胃癌的风险是A等位基因携带者的2.95倍(OR=2.95,95% CI=1.44～6.04)。胃癌组男性患者C等位基因频率显著高于女性患者(χ²=5.392,P= 0.020)。两组间比较显示A157154C不同基因型与年龄、性别、吸烟、饮酒和临床分期均无相关性。结论 EBV A73基因A157154C CA+CC基因型可能是中国北方地区汉族人群胃癌发病的危险因素。     

MDM2-309T〉G基因多态性与东亚人群胃癌风险关系的Meta分析

目的探讨东亚人群中MDM2SNP309与胃癌风险的关系。方法计算机检索MEDLINE、EMbase和CBM数据库,检索时限均为1990．1．1至2012．12．23,搜集研究东亚人群中MDM2SNP309与胃癌风险的病例一对照研究。由两位研究者独立进行文献筛选、资料提取和纳入研究的方法学质量评价后,采用RevMan5．0软件进行Meta分析。结果共纳入5个病例一对照研究,包括l621例胃癌患者,2639例对照。Meta分析结果显示：与野生型纯合子（309TT）基因型个体相比,变异纯合子（309GG）基因型个体与胃癌风险增高相关[OR=1．54,95％CI（1．04,2．29）,P=0．02],然而杂合子（309TG）基因型个体与胃癌风险增高相关性无统计学意义[OR--1．03,95％CI（0．75,1．42）,P=0．006]。在隐形遗传模式中（GGw．TG／TT）胃癌风险增高且有统计学意义[OR=I．49,95％CI（1．20,1．84）,P=0．07],但在显性遗传模式中（GG／TGvs．TT）这种风险增高无统计学意义[OR=I．18,95％CI（0．84,1．65）,P=0．001]。结论在东亚人群中,MDM2309GG基因型个体可能存在较高的胃癌风险。     

Association study of the I/D polymorphism and plasma angiotensin-converting enzyme (ACE) as risk factors for stent restenosis

The ID (insertion/deletion) polymorphism of the ACE (angiotensin-converting enzyme) gene controls plasma ACE levels. Both have been correlated with ISR (in-stent restenosis) in preliminary analyses, but not confirmed in larger studies. In the present study, baseline and 6-month quantitative coronary analysis were performed in 897 patients who had stent implantation and the ID polymorphism genotyped. Plasma ACE levels were measured in 848 patients (95%). Restenosis rates among genotypes were 31.2% DD, 25.5% ID and 28.8% II (not significant). Plasma ACE levels were significantly higher in restenotic patients compared with patients without restenosis (30.7+/-18.6 units/l compared with 22.8+/-12.8 units/l; P=0.0001) and a strong independent predictor of ISR [OR (odds ratio)=3.70; 95% CI (confidence interval), 2.40-5.71; P<0.0001], except in diabetics. In the subgroup of diabetics and patients with AMI (acute myocardial infarction), the DD genotypes actually had a lower risk of ISR than the II genotypes (diabetics, OR=0.16; 95% CI, 0.04-0.69; P=0.014; and patients with AMI, OR=0.21; 95% CI, 0.061-0.749; P=0.016). After exclusion of diabetics and patients with AMI, ISR rates for genotypes in 632 patients were 31.7% DD, 24.3% ID and 17.6% II (P=0.02; DD compared with non-DD OR=1.57; 95% CI, 1.09-2.25). The association between the D allele and ISR observed in selected populations does not hold with a larger sample size. Other than sample size, clinical variables can modulate the association between ID polymorphism and ISR. Plasma ACE level is a risk factor for ISR, independently of the ID genotype.     

Genetic association study of APOA1/C3/A4/A5 gene cluster and haplotypes on triglyceride and HDL cholesterol in a community-based population

BACKGROUND: Polymorphism of apolipoprotein A1/C3/A4/A5 gene cluster affected lipid profiles in general population. We reported 6 polymorphisms, APOA1 -75G>A, APOA1 83C>T, APOC3 3175C>G, APOC3 3206G>T, APOA4 127A>G, and APOA5 553G>T in APOA1/C3/A4/A5 gene and the haplotype structures on triglyceride and HDL traits among ethnic Chinese. RESULTS: Overall, there were statistically significant differences in the distribution of APOA1 -75G>A and APOA5 +553G>T genotypes comparing cases with control subjects. For the APOA1 -75 SNP, a lower risk of triglyceride/HDL among subjects with A/A genotype compared with those with the G/G genotype (odds ratio, OR=0.39, 95% CI 0.16-0.92, P=0.04). However, the risk magnitude reduced after multivariate adjustments. For continuous traits, we found that only in APOA5 +553 T allele carriers showed a significant higher triglyceride and a significant lower HDL cholesterol level than subjects with APOA5 +553 G/G genotypes. There were significant differences in overall haplotype frequencies between case and control subjects (P<0.001). CONCLUSION: There is an important role of APOA1/C3/A4/A5 gene polymorphisms and haplotypes in the development of high triglyceride/HDL ratio in Chinese.     

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

BACKGROUND: Glutathione peroxidase 1 (GPX1), the key antioxidant enzyme in vascular endothelial cells, has been shown to exert a protective effect against the presence of coronary artery disease (CAD). The 198Pro/leu variant, located at codon 198 of GPX1 gene, has recently been linked to cardiovascular disease, but data were inconsistent. We investigated the association between the occurrence of CAD and the 198Pro/leu variant in a Chinese population. METHODS: A total of 265 unrelated CAD patients and 265 age- and sex-matched control subjects were recruited in this study. The GPX1 198Pro/leu genotype was determined using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: Compared to the 198Pro/Pro carriers, subjects with the variant genotypes (198Pro/leu and 198Leu/leu) had a significantly higher risk of CAD (adjusted OR=2.02, 95%CI=1.27-3.22). In stratified analyses, the variant genotypes were significantly associated with increased CAD risk in subjects <64 y (adjusted OR=2.41, 95%CI=1.16-4.98), males (adjusted OR=1.86, 95%CI=1.09-3.18) and non-smokers (adjusted OR=2.40, 95%CI=1.15-5.01). However, no significant association was observed between this variant and the severity of CAD. CONCLUSION: These data provide evidence that GPX1 198Pro/leu variant genotypes are significantly associated with CAD risk in this Chinese population.