贵州省少数民族与汉族人群ACE基因rs4343多态性与心房颤动的相关性

目的:研究贵州省少数民族和汉族心房颤动(房颤)患者血管紧张素转化酶(ACE)基因rs4343多态性.方法:选取贵州地区医院房颤患者184例为病例组,其中少数民族51例,汉族133例.以年龄和性别为配对条件,选取同期贵州地区医院健康体检中心健康者226例为对照组,其中少数民族96例、汉族130例.采用聚合酶链式反应(PC...     

TBX5基因rs3825214位点多态性和心房颤动的相关性

目的探讨TBX5基因多态性与心房颤动的相关性。方法房颤患者100例(房颤组)和非房颤患者(对照组)107例进行TBX5基因rs3825214单核苷酸多态性和房颤的关联研究。所有患者均采集外周血提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)检查患者TBX5基因rs3825214多态性的基因型和等位基因分布。结果 TBX5基因rs3825214位点在入选人群中存在多态性,分别为GG、AG和AA型,其基因型频率在房颤组和对照组分别依次为28.0%,60.0%,12.0%和15.9%,50.5%,33.6%。GG基因型在房颤组的频率分布显著高于对照组(P=0.035),AA基因型在房颤组的频率分布明显低于对照组(P<0.001)。G和A等位基因频率在房颤组和对照组分别为56.0%,44.0%和41.1%,48.9%,G和A等位基因频率在两组间的差异有统计学意义(P=0.001)。结论 TBX5基因rs3825214位点多态性与房颤的发生有相关性,G等位基因可能是房颤的易感基因,GG基因型可能增加了房颤发生的危险性。     

心房颤动与单核苷酸多态性

心房颤动是临床上常见的心律失常,多见于老年人。其发病机制目前仍不清楚。随着分子生物学技术的发展,发现基因组中的单核苷酸多态性与房颤的发生有一定关系。现就与房颤发生有关的单核苷酸多态性的研究进展做一综述。     

Connexin40基因多态性与心房颤动的相关性研究

目的探讨Connexin40基因多态性与心房颤动的相关性。方法采用等位基因聚合酶链反应（PCR）的方法，对北京地区110例研究对象进行两种Connexin40单核苷酸多态性的检测，其中孤立性房颤组50例，高血压房颤组18例，单纯高血压组12例，健康对照组30例。结果孤立性房颤、高血压房颇、单纯高血压与健康对照组之间Connexin40启动子区域—44位点（G→A）单核苷酸多态等位基因频率和基因型频率存在分布差异显著（p〈0．05）；房颤组与非房颤组相比，在Connexin40启动子区域-44位点A基因型频率及A等位基因频率高于非房颤组（p〈0．05）；孤立性房颤、高血压房颤、单纯高血压与健康对照组之间Connexin40启动子区域（＋71）的基因型频率及等位基因频率的分布差异没有显著性（p〉0．05）.结论Connexin40基因多态性（-44G→A）与心房颤动发生具有相关性。     

rs2200733多态性与房颤相关性研究进展

心房颤动（房颤）是临床上最常见的心律失常之一,可以引起心力衰竭、增加缺血性脑卒中风险以及心脑血管疾病死亡率,然而房颤的病因学机制仍不明确。近年来,随着分子生物学技术的发展和人类基因组研究的深入,越来越多的研究发现多个基因的多态性与房颤相关,其中全基因组关联研究已经确定rs2200733,一个位于4q25功能性基因PITX2的上游的rs2200733单核苷酸多态性(SNP)是房颤(AF)患者中最常见的染色体变异。研究表明其多态性可能影响PITX2的表达,与房颤的发生、复发以及房颤并发症（缺血性脑卒中、猝死等）存在显著相关。     

PNPLA3基因多态性与酒精性肝病发生的关系

目的探讨PNPLA3基因位点rs738409多态性与酒精性肝病(ALD)发生的关系。方法选取2016年1月至2018年2月在我院治疗的ALD患者140例(ALD组),同时选取嗜酒者但未诊断ALD志愿者100例(嗜酒组)和不饮酒健康志愿者100例(对照组),采用聚合酶链反应-限制性片段长度多态性分析PNPLA3基因多态性,同时检测血清因子。结果对照组、嗜酒组和ALD组性别、年龄等一般特征比较差异无统计学意义(P0.05);ALD组基因型GG型和等位基因G的比例为18.57%和39.29%,明显高于对照组和嗜酒组(P0.05);GG型患者前胶原Ⅲ(PCⅢ)和胶原蛋白(ⅣC)水平为(210.02±81.16)μg/L和(220.01±90.00)μg/L,明显高于CC型和CG型(P0.05);各基因患者AST、ALT和GGT比较差异无统计学意义(P0.05)。结论 PNPLA3基因多态性与ALD发生有一定关系,rs738409位点G可能与ALD个体遗传易感性和肝纤维化有关,值得进一步研究。     

MTHFR基因rs1801133位点多态性与脑卒中的相关性

目的 探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因rs1801133位点多态性与脑卒中的相关性。方法 共纳入华北理工大学附属医院脑卒中患者194例(病例组),再根据脑卒中类型分为缺血性脑卒中(IS)组和出血性脑卒中(ICH)组,无脑卒中相关病史的体检者221例为对照组。收集一般资料和多项检验结果,提取空腹外周血中DNA,利用实时荧光PCR技术定性定量检测MTHFR基因rs1801133位点多态性。通过χ²检验评估CC、CT和TT 3种基因型和C、T等位基因的差异。通过多因素二元Logistic回归分析包括CT、TT两种基因型在内的共12种因素与脑卒中的关系。结果 在MTHFR基因rs1801133位点上相比较：IS组与ICH组基因型和等位基因频数无显著差异(P>0.05);但是病例组及IS、ICH组分别与对照组相比,基因型和等位基因频率差异有统计学意义(P<0.05)。在5种基因模型(等位基因模型：T vs C;显性模型：CT+TT vs CC;隐性模型：TT vs CC+CT;共显性杂合子模型：CT vs CC,共显性纯合子模型：TT vs ...     

肿瘤坏死因子基因rs1799964多态性与慢性牙周炎易感相关性

目的 探讨肿瘤坏死因子TNF-α基因单核苷酸多态位点与慢性牙周炎易感相关性.方法 选择慢性牙周炎患者156例作为实验组,健康者161例作为对照组.利用PCR结合测序技术对两组患者肿瘤坏死因子rs1799964多态位点(C/T)多态性进行检测,并利用统计学软件对组间数据进行分析.结果 CC、CT、TT三种基因型在实验组中的检出分别为37例(0.237)、46例(0.295)、73例(0.468),在对照组中的检出例(率)分别为59例(0.366)、51例(0.317)、51例(0.317),组间差异具有统计学意义(P＜0.05).等位基因C和T在实验组中的检出率为0.353和0.647,在对照组中的检出率为0.525和0.475,经统计学分析显示组间差异亦具有统计学意义.结论 rs1799964基因多态性与慢性牙周炎具有密切关联,基因型TT可能是易感基因型,而等位基因T可能是牙周炎的易感基因.     

新疆汉族与维吾尔族心房颤动患者钠通道基因多态性与心房颤动易感性的相关性研究

目的 探究新疆汉族与维吾尔族心房颤动(房颤)患者钠通道基因的多态性与房颤易感性的相关性.方法 选取2016年6月至2018年6月在新疆医科大学第一附属医院诊断及治疗的汉族及维吾尔族房颤患者各100例,纳入房颤组;选择同时期非房颤的汉族及维吾尔族健康体检者各100例,纳入对照组.比较两组患者一般资料,包括:性别、年龄、血压、血脂、病史等情况,并进行钠离子通道(SCN5A)H558R位点基因多态性检测,使用多因素Logistic回归模型分析房颤的危险因素.结果 汉族及维吾尔族患者房颤组和非房颤组间年龄、总胆固醇和低密度脂蛋白胆固醇水平(LDL-C)的差异均具有统计学意义(P<0.05);SCN5A H558R位点基因符合Hardy-Weinberg平衡,汉族及维吾尔族房颤患者G等位基因频率均显著高于非房颤组,且基因型频率也与非房颤患者具有显著差异;多因素Logistic回归显示,汉族患者显性模型中(AG+GG)基因型(OR=2.72,P=0.012),共显性模型中AG基因型(OR=2.77,P=0.014)是房颤发生的独立危险因素;维吾尔族患者显性模型中(AG+GG)基因型(OR=2.37,P=0.012),共显性模型中AG基因型(OR=2.65,P=0.006)是房颤发生的独立危险因素;入组总患者显性模型中(AG+GG)基因型(OR=2.19,P=0.001),共显性模型中AG基因型(OR=2.20,P=0.001)是房颤发生的独立危险因素.结论 新疆汉族与维吾尔族房颤患者钠通道基因多态性与房颤均存在显著相关性,值得进一步深入研究.     

ORMDL3基因多态性与哮喘相关性的研究进展

支气管哮喘是一种有明显家族聚集倾向的多基因遗传病,它的发生既受遗传因素又受环境因素的影响,至今约有100多个哮喘候选基因被发现,且多个已得到可靠的实验验证。Miram等。于2007年首次通过全基因组关联研究发现血清类黏蛋白1样蛋白3（ORMDL3）基因是同年研究中与哮喘相关度最高的易感基因,且该基因与哮喘的关联性已在多个种族中得到验证。了解ORMDL3与哮喘的相关性及其作用机制可能为哮喘的发生机制、早期诊断、治疗及一级预防提供新方向。现就该哮喘易感基因及其研究进展综述如下。     

Association between the rs2106261 polymorphism in the zinc finger homeobox 3 gene and risk of atrial fibrillation: Evidence from a PRISMA-compliant meta-analysis

Introduction:Previous genome-wide studies have identified an association between the rs2106261 single-nucleotide polymorphism (SNP) in the zinc finger homeobox 3 (ZFHX3) gene and an increased risk of atrial fibrillation (AF). However, this association remains controversial, since conflicting results have been reported in previous studies. We aimed to investigate the association between the ZFHX3 rs2106261 polymorphism and susceptibility to AF.Methods:A comprehensive literature search, of articles written in either English or Chinese, was conducted on various databases, including PubMed, Embase, Web of Science, the Cochrane library, Wan Fang, and CNKI, for studies performed up to August 1, 2020. Data were abstracted and pooled using Stata 14.0 software. A meta-analysis was performed on all selected studies based on ZFHX3 rs2106261 polymorphism genotypes.Results:Nine studies, including 10,107 cases and 58,663 controls, were analyzed in the meta-analysis. In the overall population, a significant association was found between AF and the T-allelic ZFHX 3 rs2106261 SNP (odds ratio [OR] = 1.32, 95% confidence interval [CI] 1.19–1.46). In subgroup analysis, a significant association between the T-allele of rs7193343 and risk of AF in Caucasian (OR = 1.23, 95% CI 1.10–1.37) and Asian subgroups (OR = 1.58, 95% CI 1.32–1.89) was observed. However, no statistically significant association was found in African populations (OR = 1.06, 95% CI 0.95–1.19).Conclusion:The genetic variant rs2106261 SNP is associated with susceptibility to AF in Caucasian and Asian individuals, with Asian samples showing a stronger association. However, based on the current evidence, no association was found in African samples. Future studies, with larger sample sizes and multiple ethnicities, are still necessary.     

新疆维吾尔族老年人群延迟整流型钾离子通道KCNE1（G38S）基因多态性与心房颤动的相关性研究

目的探讨新疆维吾尔族老年人群延迟整流型钾离子通道KCNE1（G38S）基因多态性与心房颤动（AF）的相关性。方法收集新疆地区维吾尔族AF人群（AF组）和非AF人群（对照组）各70例的外周血样标本,提取DNA,采用等位基因聚合酶链反应（PCR-RFLP）的方法鉴定KCNE1（G38S）的基因型及等位基因分布。采用Logistic回归分析各种因素与房颤的相关性。结果 KCNE1基因G38S位点AA、AG、GG基因型频率在AF组分别为17.14%、27.14%、55.71%。在对照组分别为24.29%、50%、25.71%。2组基因型分布差异具有统计学意义（P〈0.05）,且AF组G等位基因频率明显高于对照组（P〈0.05）。Logistic回归分析结果显示KCNE1（G38S）GG基因型与维吾尔族人群AF的发生相关（P〈0.05）。结论新疆地区维吾尔族人群AF的发生与KCNE1（G38S）基因多态性相关。G38S位点多态性可能是维吾尔族AF患者的独立危险因素之一。     

92例心房颤动患者与C-反应蛋白及其-717A>G多态性关系的分析

目的:分析92例心房颤动(房颤)患者与C-反应蛋白(CRP)及其-717A>G多态性的关系.方法:采用免疫比浊法测定92例房颤患者(房颤组)和60例对照者(对照组)的血清CRP水平,同时应用聚合酶链反应检测CRP的-717A/G的基因多态性,结合其他临床资料分析.结果:Logistic回归分析显示自然对数转换CRP(InCRP)水平(0R=7 84,P<0 01)与房颤独立相关,房颤组的水平显著高于对照组.2组-717A/G基因型的分布趋势相同,差异无统计学意义;但等位基因频数分布2组间存在显著性差异(χ2=4 38,P<0 05),G等位基因在房颤组中表现为低频率.CRP水平与-717A/G基因型无关,但AA基因型个体TC水平显著高于GA+GG型个体(P<0 05),但这种关系仅限于房颤患者.结论:血清CRP水平升高可能是房颤的独立危险因子,AA基因型在房颤组中表现为高TC水平,可能代表更高的炎症状态.     

心房颤动患者ABCB1基因多态性与达比加群酯临床疗效的关系

目的 探索维吾尔族(维族)心房颤动患者ABCA1基因C3435T位点多态性与达比加群酯治疗效果的关系.方法 选取2015年1月至2016年12月在新疆医科大学第五附属医院住院或门诊就诊的维族、汉族心房颤动患者166例作为研究对象.检测入选患者的ABCA1基因C3435T位点多态性,再分别检测并比较不同基因型患者达比加群...     

RGS2基因C1114G多态性与阵发性房颤的相关性

目的分析G蛋白信号转导调节蛋白RGS2基因C1114G单核苷酸多态性与阵发性房颤（PAF）的相关性。方法选取PAF患者115例及健康对照者102例,应用创造酶切位点原理设计引物,采用PCR-RFLP技术检测RGS2基因C1114G等位基因型及等位基因频率分布。结果两组基因型频率均符合Hardy．Weinberg平衡（P〉0．05）。两组间RGS2基因C1114G多态性的基因型频率及等位基因频率比较有统计学差异（P〈0．01）,其中GG基因型及1114G等位基因型频率在PAF患者中显著增高。结论RGS2基因C1114G单核苷酸多态性与PAF相关,1114G等位基因可能是PAF的遗传易感基因。     

醛固酮合酶基因-344C/T多态性与老年心房颤动的关系

目的探讨醛固酮合酶(CYP11B2)基因-344C/T多态性与老年心房颤动(AF)的关系。方法选择老年心血管系统疾病的患者和健康体检者238例,根据既往病史及心电图将入选者分为2组,心电图诊断AF患者为AF组115例,心电图正常的窦性心律患者为窦律组123例,应用PCR-RELP技术检测CYP11B2基因-344C/T多态性,并进行分析。结果 CYP11B2基因-344C/T多态性以TT和CT为主要基因型,与窦律组比较,AF组患者CT+CC基因型更多见(χ~2=4.66,P<0.05)。结论武汉地区汉族老年人群中,AF人群携带CC+CT基因型频率较高,CYP11B2基因-344C/T多态性可能与AF相关。     

Occam's razor and the unraveling of atrial fibrillation

The search for a mechanism to explain atrial fibrillation (AF) has lasted for over a century and continues. Significant progress in understanding this arrhythmia accelerated with the era of operative treatment of this arrhythmia and intensified with the advent of catheter ablation. Through considerable trial and some error, effective "curative" therapies have evolved for paroxysmal AF and are evolving for persistent AF. It is becoming clear that no single mechanism suffices to explain AF in all its forms and multiple mechanisms are playing a role in the most complicated cases.     

Relationship between SCN5A gene H558R polymorphism and atrial fibrillation in Tibetan and Han nationalities at high altitude

This study aimed to explore the relationship between H558R polymorphism of the SCN5A gene and atrial fibrillation (AF) in Tibetan and Han nationalities at high altitude.A total of 50 Tibetan and 50 Han patients with AF at the same altitude (2260 m) were included. Meanwhile, the general clinical data of patients without AF (50 Tibetan and 50 Han) matched with the data of patients with AF were included during the same period. The blood samples of patients were collected to extract DNA. The DNA sequencing was performed by Xi’an Zhenpin Biotechnology Co., Ltd. The mutation loci of the sequence were located and identified by DNA sequencing. The general information, laboratory examination, color Doppler echocardiography, and genotypes and alleles of each group were analyzed. The multivariate logistic regression analysis was used to determine the independent risk factors for AF.The genotype and allele frequencies of the H558R locus of the SCN5A gene in the AF groups of Tibetan and Han nationalities were significantly different from those in the non-AF groups (P < .05). The genotype and allele frequency of the H558R locus of the SCN5A gene in the AF group of Tibetan nationalities were not significantly different from those in the AF group of Han nationalities (P > .05). The logistic regression analysis of the total population revealed that coronary heart disease, age, total cholesterol (TC), left atrial diameter, and G allele were independent risk factors for AF occurrence.The occurrence of AF in Tibetan and Han nationalities at high altitude is associated with the polymorphism of H558R locus of the SCN5A gene. The G allele is an independent risk factor for the occurrence of AF in Tibetan and Han nationalities.     

CXCL12 rs1801157基因多态性与乳腺癌易感性关联的Meta分析

目的探讨CXCL12 rs1801157基因多态性与乳腺癌易感性的关系。方法通过计算机检索和手工检索,收集有关CXCL12 rs1801157基因多态性与乳腺癌易感性关系的文献,筛选出符合条件的文献,应用M eta分析软件对各项研究进行异质性检验,计算合并OR值及其95%可信区间,并行敏感性分析和发表偏倚的评估。结果共5篇符合条件文献纳入本研究,病例组1 058例,对照组1023例。Meta分析合并结果显示CXCL12 rs1801157基因A等位基因携带者乳腺癌发生率明显高于G等位基因携带者（OR=1.32,95%CI=1.15~1.51,P〈0.01）;AA∶GG,GA∶GG和AA＋GA∶GG合并OR值及其95%可信区间分别是1.64（95%CI=1.16~2.33）、1.42（95%CI=1.18~1.70）和1.44（95%CI=1.21~1.72）。敏感性分析表明合并结果不受单个研究的影响,未发现发表偏倚,结论可靠。结论 CXCL12 rs1801157基因多态性可能与乳腺癌易感性有关,A等位基因可能增加乳腺癌的发病。     

Association between human immunodeficiency virus serostatus and the prevalence of atrial fibrillation

Atrial fibrillation (AF) leads to increased risk for stroke. Human immunodeficiency virus (HIV) is associated with cardiovascular disease (CVD), although it is unclear if HIV is associated with AF. The purpose of this study was to evaluate the association between HIV serostatus and the prevalence of AF in the Multicenter AIDS Cohort Study.A cross sectional study was conducted among 1674 HIV-infected (HIV+) and uninfected (HIV–) men who completed resting 12-lead electrocardiograms, and/or ambulatory electrocardiogram monitoring. Multivariable logistic regression was used to evaluate the association between AF, defined as the presence of either AF or atrial flutter, and HIV+ serostatus. Associations were adjusted for demographic variables, and then also for CVD risk factors.HIV+ men were younger than HIV– men (median 55.5 vs 61.7 years, P < .001) and were more frequently African-American (30.5% vs 17.8%, P < .001). Most HIV+ men (81%) had undetectable viral load. The age and race adjusted prevalence of AF was 3.0% in HIV+ and 3.3% in HIV– men. There was only 1 case of AF among African-American men. There were no associations between AF and HIV serostatus after adjusting for demographic factors (odds ratio 0.76; 95% CI 0.37 to –1.58; P = .47) or after further adjustment for CVD risk factors (odds ratio 0.84; 95% CI 0.39 to –1.81; P = .66).We found no association between HIV and AF in this cohort in which viral replication among the HIV+ men is generally suppressed. The overall prevalence of AF was low and was rare in African-American men.