ZFHX3基因rs7193343多态性与心房颤动的相关性

目的:研究ZFHX3基因rs7193343多态性与心房颤动(房颤)的相关性。方法:采用前瞻式病例对照研究,按照相关标准入选202例汉族人群,其中房颤患者102例,无房颤患者100例,收集其临床资料和静脉血标本,分别提取基因组DNA,通过聚合酶链反应-限制性片段长度多态性方法和基因测序法检测所有患者的ZFHX3基因rs7193343多态性的基因型。结果:①2组患者ZFHX3基因rs7193343的CC基因型(P=0.023,OR=0.422,95%CI0.198～0.900)、TT基因型(P=0.024,OR=2.475,95%CI1.106～5.541)及等位基因(P=0.017,OR=1.614,95%CI1.089～2.391)的分布均差异有统计学意义。②房颤患者中,TT基因型患者的超敏C反应蛋白水平较CC基因型患者明显高[1.62(0.90～2.90)mg/L∶0.71(0.34～1.09)mg/L,P=0.014],且TT基因型患者的左房前后径和右房横径大小均较CC基因型患者明显增大[(38.2±4.9)mm∶(33.5±4.1)mm,P=0.026;(38.9±6.0)mm∶(33.1±2.6)mm,P=0.003]。结论:在大陆汉族人群中,ZFHX3基因rs7193343多态性与房颤具有显著的相关性,T等位基因和TT基因型是房颤发生发展的危险因子,可通过影响心房肌的结构重构和炎症性改变为房颤的发生、发展提供基质。     

Association of BCAS3 rs11653176 gene polymorphism with the occurrence of gout

正Objective To explore the relationship between the polymorphisms of the primary gout predisposing gene(BCAS3)rs11653176 locus and the incidence of gout in Han Chinese men in coastal areas of Shandong Province.Methods One hundred and fifty-two cases of patients with gout remission,68 cases of acute stage,252patients with hyperuricemia,and 280 healthy subjects,     

beta1-Adrenoceptor gene polymorphism predicts long-term changes in body weight

BACKGROUND: The genes controlling long-term weight changes are largely unknown. The beta1 (beta1)-adrenoceptor gene contains two nonsynonomous single nucleotide polymorphisms (SNPs), Ser49Gly and Gly389Arg, that both are functional in human cell lines. DESIGN: We investigated the influence of these two SNPs on short- and long-term changes in body mass index (BMI) in a population-based cohort of 761 women who were examined during pregnancy in 1984-1985 and 15 y thereafter. RESULTS: At entry, no genotype effect on BMI was found. After 15 y, the BMI of women carrying the Gly49-genotype (25.3+/-0.3 kg/m(2)) was higher (P<0.005) than that of Ser49-women (24.4+/-0.2 kg/m(2)). Also, the BMI-increase over 15 y was higher (P=0.018) in Gly49-women (3.3+/-0.2 kg/m(2)) than in Ser49-women (2.8+/-0.1 kg/m(2)). The odds ratio for being overweight after 15 y having the Gly49-genotype was 1.6 (confidence interval 1.1-2.3, P=0.01). No effect of SNP 389 alone on BMI was found but there was a genotype-genotype interaction. Those carrying the Gly49-Gly389 combination increased their BMI about 0.7 kg/m(2) more than other combinations (P=0.025). No genotype effect on BMI changes during pregnancy for either SNP was found. CONCLUSION: Polymorphism of the beta1-adrenoceptor gene influences long-term weight gain and the incidence of adult-onset overweight in women.     

中国藏族PSCA基因rs2294008多态性与胃癌遗传易感性的关系

目的:研究前列腺干细胞抗原基因(prostatestem cell antigen gene,PSCA)rs2294008位点多态性与中国藏族胃癌患者遗传易感性的关系.方法:收集185例藏族胃癌患者与200例健康人群的外周血样本,提取基因组DNA,采用dHPLC方法进行PSCA基因rs2294008位点分型.结果:PSCA基因rs2294008位点3种基因型C C、C T、T T在胃癌病例组中频率分别为:40.00%、48.65%和11.35%,而在对照组中分别为54.00%、39.50%和6.50%.与CC型比较,携带CT,TT型基因型者胃癌发生的危险性增加,OR值分别为1.66(95%CI 1.09-2.54)和2.36(95%CI 1.11-5.00).结论:PSCA基因rs2294008位点CT,TT基因型增加中国藏族人群的胃癌易感性.     

SP-D基因rs721917多态性与COPD的相关性研究

目的探讨肺泡表面活性蛋白D(SP-D)基因多态性与慢性阻塞性肺疾病易感性的关系。方法收集117例COPD患者(COPD组)和117名健康者(对照组)的外周血,提取全血细胞DNA,采用基因测序技术检测两组SP-D基因单核苷酸多态性位点(rs721917)的基因型分布频率。结果 COPD组中rs721917的CC、TC、TT频率分别为28.2%、56.4%、15.4%,与对照组41.0%、51.3%、7.70%相比(P=0.048);COPD组中T等位基因频率(43.6%)高于对照组(33.3%),T等位基因是COPD的易感基(OR=1.545,95%CI 1.062~2.249,P0.05)。结论 SP-D(rs721917)位点基因多态性与COPD的易感性相关,T等位基因可能是COPD的易感基因。     

G蛋白β3亚单位基因多态性与血管紧张素转化酶抑制剂降压疗效的相关性

目的:探讨G蛋白β3亚单位(GNβ3)基因C825T多态性在原发性高血压患者中的分布频率及其多态性与血管紧张素转化酶抑制剂(ACEI)降压疗效的关系。方法:419例1-2级原发性高血压患者经安慰剂治疗2周后,分别给予ACEI咪达普利5-10 mg/d或贝那普利10-20 mg/d,治疗6周,观察降压疗效。采用聚合酶链反应(PCR)结合限制性内切酶片段长度多态性(RFLP)方法检测GNβ3基因型。分析受试者GNβ3基因C825T 基因多态性与ACEI降压疗效的关系。结果:GNβ3的CC、TC、TT 3种基因型频率分别为21.96%,49.40%, 28.64%,等位基因频率为C 0.47,T 0.53。ACEI治疗后,CC、TC和TT 3组间收缩压与舒张压下降值均差异无统计学意义。结论:GNβ3基因C825T多态性与ACEI降压疗效无关,GNβ3基因单一基因多态性对ACEI降压疗效影响很小。     

EP300基因rs20551多态性与缺血性脑卒中痰瘀证和冠心病痰瘀证及其凝血功能的关联研究

目的探讨EP300基因rs20551多态性与缺血性脑卒中痰瘀证和冠心病痰瘀证的易感性及其临床凝血功能的关联。方法选择缺血性脑卒中痰瘀证患者550例(脑卒中组),冠心病痰瘀证患者550例(冠心病组),另选取同期体检中心健康体检者以及骨科病情轻微患者550例(对照组)。检测各组活化部分凝血酶原时间(APTT)、D-二聚体、纤维蛋白原、国际标准化比值、血小板计数(Plt)、凝血酶原时间、凝血酶原时间活动度(PTA)和凝血酶时间(TT),采用RT-PCR技术检测患者外周血EP300基因mRNA表达水平。结果脑卒中组、冠心病组EP300基因mRNA表达明显高于对照组,差异有统计学意义(P=0.000)。校正年龄、性别后,脑卒中组EP300基因rs20551多态性与APTT(加性模型:β=-1.83,95%CI:-3.52～-0.13,P=0.035;显性模型:β=-1.89,95%CI:-3.70～-0.07,P=0.042)、PTA(加性模型:β=5.51,95%CI:1.12-9.89,P=0.014;显性模型:β=5.40,95%CI:0.72～10.09,P=0.024)相关。冠心病组EP300基因rs20551多态性与APTT(隐性模型:β=35.09,95%CI:6.22～63.96,P=0.018)、D-二聚体(隐性模型:β=7.56,95%CI:3.62～11.49,P=0.000)、Plt(加性模型:β=23.40,95%CI:-41.75～-5.05,P=0.013;显性模型:β=-22.10,95%CI:-41.38～-2.82,P=0.025)、TT(加性模型:β=9.11,95%CI:3.40～14.83,P=0.002;隐性模型:β=109.00,95%CI:79.52～138.50,P=0.000)相关。结论 EP300基因表达可能影响缺血性脑卒中痰瘀证、冠心病痰瘀证的发生,且EP300基因rs20551多态性可能对缺血性脑卒中痰瘀证、冠心病痰瘀证的凝血功能都有影响。从一定程度上支持了异病同证理论。     

ABCB1基因单核苷酸多态性rs1045642与脑梗死患者氯吡格雷反应的相关性研究

目的探讨ABCB1基因单核苷酸多态性rs1045642与脑梗死患者氯吡格雷反应的相关性。方法选择2013年1~12月在长江航运总医院神经内科住院的脑梗死患者100例,采用光学比浊法测定残余血小板聚集率(residual platelet agglutination,RPA),根据RPA结果分为氯吡格雷抵抗(clopidogrel resistance,CR)组42例(RPA≥70%)和非CR组58例。采用直接测序法测定ABCB1基因rs1045642单核苷酸多态位点在CR组和非CR组的基因型及等位基因分布频率。结果非CR组吸烟比例明显高于CR组,差异有统计学意义(P=0.009)。CR组CC、CT、TT基因型频率分别为21.4%、45.2%、33.3%,非CR组CC、CT、TT基因型频率分别为36.2%、44.8%、19.0%,差异无统计学意义(P0.05);CR组C、T等位基因分布频率分别为44.0%、56.0%,非CR组C、T等位基因分布频率分别为58.6%、41.4%,差异无统计学意义(P0.05)。结论脑梗死患者中发生CR与其ABCB1基因单核苷酸多态性rs1045642等位基因多态性的发生无相关关系。     

载脂蛋白C3基因rs5128多态性与不同体质指数冠心病患者血脂水平及冠状动脉狭窄程度的相关性

目的探讨中国汉族人群载脂蛋白C3(ApoC3)基因rs5128多态性与不同体质指数(BMI)冠心病(CHD)患者血脂水平及冠状动脉狭窄程度的相关性。方法根据BMI将312例CHD患者分为正常体重组(205例)和超重/肥胖组(107例)。收集所有患者的生理生化资料和冠状动脉造影数据,采用Gensini评分法评价CHD患者的冠状动脉狭窄程度。提取外周血白细胞DNA并应用聚合酶链反应-限制性片段长度多态性法对ApoC3rs5128多态性分型。结果超重/肥胖组体重、BMI、高血压患病率、甘油三酯(TG)、脂蛋白a、TG/高密度脂蛋白胆固醇(HDLC)、总胆固醇(TC)/HDLC、低密度脂蛋白胆固醇(LDLC)/HDLC和载脂蛋白B100(ApoB100)/载脂蛋白AI(ApoAⅠ)水平高于正常体重组,HDLC和ApoAⅠ水平低于正常体重组(P0.05)。在正常体重组中,G等位基因携带者高血压患病率显著高于CC基因型患者(P0.05);在超重/肥胖组中,G等位基因携带者TG和TG/HDLC水平显著高于CC基因型患者(P0.05)。在正常体重组和超重/肥胖组中,rs5128多态性基因型和等位基因频率在不同冠状动脉狭窄程度亚组中的分布差异无统计学意义(P0.05)。结论在超重/肥胖CHD患者中,rs5128多态性G等位基因与血浆TG和TG/HDLC水平升高显著相关,但与冠状动脉狭窄程度无明显关联。     

Apelin基因rs2235306位点多态性与支气管哮喘和代谢综合征的相关性研究

目的:探讨Apelin基因rs2235306位点多态性与支气管哮喘(哮喘)和代谢综合征的相关性。方法:选择2015年3月至2016年5月于青岛市市立医院就诊的109例哮喘患者(A组)、102例代谢综合征患者(MS组)、73例哮喘合并代谢综合征患者(A＋MS组)和89名健康对照者(NC组)进行横断面研究,应用四引物扩增受...     

外周血PNPLA3 rs738409基因多态性与非酒精性脂肪性肝病遗传易感性研究

目的 分析patatin样磷脂酶结构域蛋白3(PNPLA3)rs738409基因多态性与非酒精性脂肪性肝病(NAFLD)遗传易感性的关系。方法 2017年11月～2019年11月我院诊治的162例NAFLD患者和同期体检的100例健康人,采用聚合酶链式反应-限制性片段长度多态性检测外周血PNPLA3 rs738409位点多态性。结果 NAFLD组PNPLA3基因rs738409位点GG基因型频率为37.0%,G等位基因频率为58.3%,显著高于健康人(分别为11.0%和34.0%,P<0.05),而GC和CC基因型频率分别为42.6%和20.4%,C等位基因频率为41.7%,与健康人的46.0%、43.0%和66.0%比,差异无统计学意义(P>0.05);73例GG基因型的NAFLD患者血清ALT和AST水平分别为(118.5±20.3)U/L和(85.2±14.7)U/L,显著高于65例GC基因型患者[分别为(93.3±16.4)U/L和(59.6±10.3)U/L,P<0.05]或24例CC基因型患者[分别为(65.9±11.8)U/L和(31.9±5.5)U/L...     

TRIB3基因rs2295490多态性与2型糖尿病合并冠心病的相关性

目的探讨TRIB3基因rs2295490多态性与2型糖尿病(T2DM)和T2DM合并冠心病(CHD)的关系。方法用基因测序方法对126例健康对照组、101例T2DM组、94例T2DM合并CHD组TRIB3基因rs2295490多态性进行分型,同时对其生化指标如空腹血糖(FPG)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、糖化血红蛋白(Hb A1c)等进行检测。结果 3组间TRIB3基因rs2295490多态性基因型和等位基因分布频率差异无统计学意义(P0.05)。健康对照组中AA基因型TG水平明显低于AG+GG基因型(P0.05);T2DM组中AA基因型TC与TG水平明显低于AG+GG基因型(P0.05);T2DM+CHD组AA基因型TC、TG、LDL-C水平明显低于AG+GG基因型(P0.05),AA基因型HDL-C水平明显高于AG+GG基因型(P0.05)。结论 TRIB3基因rs2295490多态性与T2DM合并CHD无明显关联,但可能与T2DM及T2DM并发CHD患者的血脂异常有关。     

Association of GCKR gene rs780094 polymorphism with hyperuricemia in Uygur in Xinjiang

<正>Objective To investigate the relationship between glucokinase regulator protein(GCKR)gene polymorphism rs780094 and hyperuricemia in Uygur in Xinjiang.Methods A case-control study including 1 026 patients with hyperuricemia and 1 030 normal subjects was conducted.All the subjects were genotyped for GCKR gene     

钙腔蛋白rs339097基因多态性与华法林稳定剂量的关系

目的:探讨钙腔蛋白(CALU)rs339097基因型在中国汉族人群中的分布情况及其基因多态性与瓣膜置换术后华法林稳定剂量的关系。方法:采用Snapshot技术检测226例研究对象CALU rs339097位点基因型,计算其基因型及等位基因频率。对其中176例瓣膜置换术患者,分析CALU rs339097基因多态性与华法林稳定剂量的相关性。结果:226例研究对象中,基因型TT、CT、CC分别为221例(97.8%)、4例(1.8%)和1例(0.4%),T和C等位基因分别为446次(98.7%)和6次(1.3%)。176例瓣膜置换术患者中,CC基因型未检出,TT基因型检出172例,CT基因型检出4例;在达到稳定抗凝状态时,TT基因型和CT基因型华法林日维持剂量[(3.19±0.86)mg/d∶(4.50±0.61)mg/d]差异有统计学意义(P=0.003)。结论:中国汉族人群CALUrs339097基因多态性是瓣膜置换术后华法林个体剂量差异的影响因素。     

Selected eating behaviours and excess body weight: a systematic review

The relationship between obesity and the intake of macronutrients and specific foods is uncertain. Thus, there is growing interest in some eating behaviours because they may reflect the joint effect of several foods and nutrients and, thus, increase the likelihood of finding a link to obesity. This study examined the association between selected eating behaviours and excess weight in the general population throughout a systematic review of publications written in English, Spanish or Portuguese identified in a PubMed search up to 31 December 2010. We included 153 articles, 73 of which have been published since 2008. Only 30 studies had a prospective design; of these, 15 adjusted for sociodemographic variables, physical activity and energy or food intake. Moreover, definitions of eating behaviours varied substantially across studies. We found only small or inconsistent evidence of a relationship between excess weight and skipping breakfast, daily eating frequency, snacking, irregular meals, eating away from home, consumption of fast food, takeaway food intake, consumption of large food portions, eating until full and eating quickly. In conclusion, this review highlights the difficulty in measuring human behaviour, and suggests that a more systematic approach is needed for capturing the effects of eating behaviours on body weight.