新疆维吾尔族、汉族心房颤动KCNE1 G38S单核苷酸多态性研究

目的 探讨新疆地区维吾尔族及汉族人群心房颤动(房颤)与KCNE1 G38S的关系.方法 收集新疆地区维吾尔族房颤患者237例及汉族房颤患者251例,以年龄和性别为配对条件,按1∶1比例分别选取维吾尔族对照237例及汉族对照251例,采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)鉴定KCNE1 G38S基因型及等位基因分布.结果 在汉族人群中,KCNE1 G38S基因型及等位基因频率,未证实与房颤有关(GG,GS,SS 3种基因型在病例组及对照组为122∶116,98∶109,31∶26,P=0.556;G,S等位基因频率在病例组及对照组为342∶341,160∶161,P=0.946).进一步控制冠心病、高血压、糖尿病、吸烟及饮酒等混杂因素后,多因素Logistic回归分析显示差异仍无统计学意义(P=0.698).在维族人群中,病例组与对照组之间基因型及等位基因频率分布差异有统计学意义(GG,GS,SS 3种基因型在病例组及对照组为96∶72,103∶106,38∶59,P=0.018;G,S等位基因频率在病例组及对照组为295∶250,179∶224,P=0.003).多因素Logistic回归分析显示,KCNE1 G38S是维吾尔族房颤患者的独立危险因素之一(OR=1.634,95％CI:1.192-2.240,P=0.002).结论 KCNE1 G38S单核苷酸多态性在维吾尔和汉族房颤患者中的分布有差异.在汉族人群中,KCNE1 G38S多态性与房颤无相关性;在维族人群中,KCNE1 G38S是维吾尔族房颤患者的独立危险因素之一.     

心肌钾离子通道β亚单位基因rs1805127多态性与新疆维吾尔族心房颤动的相关性

目的 研究心肌钾离子通道β亚单位基因(KCNE1) rs1805127多态性与新疆维吾尔族心房颤动(房颤)的相关性.方法 应用聚合酶链反应-限制性片段长度多态性方法,对303例房颤患者和328名健康受试者(对照组)KCNE1基因rs1805127多态位点进行检测,采用非条件多元Logistic回归分析综合评价各因素与房颤的关系.结果 KCNE1基因rs1805127位点AA、AG、GG基因型频率在房颤组分别为0.092(28/303)、0.386(117/303)和0.522(158/303),在对照组分别为0.122(40/328)、0.485(159/328)和0.393(129/328),2组基因型分布差异具有统计学意义(x2=10.465,P=0.005),且房颤组G等位基因频率(0.715)明显高于对照组(0.636)(x2=8.907,P=0.003);Logistic回归分析结果显示KCNE1基因多态性仍是维吾尔族房颤发生的重要危险因素,基因型GG的OR值为1.55,95%CI:0.73～3.27.结论 KCNE1基因rs1805127多态性可增加新疆维吾尔族房颤的发生风险.     

αENaC基因T663A多态性与新疆哈萨克族原发性高血压的相关性

目的 研究αENaC基因T663A多态件与新疆哈萨克族原发性高血压的关系.方法 采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法 对新疆哈萨克族257例原发性高血压患者(PH组)和259例血压正常者(NT组)进行T663A多态性检测,分析2组间基因型和等位基因的频率分布,并采用Logistic多元回归法分析该基因多态性与原发性高血压的相关性.结果 新疆哈萨克族αENaC基因T663A位点基因型分布在PH组及NT组中均符合Hardy-Weinberg平衡.PH组基因型分布AA:16.34%(42/257),AG:49.03%(126/257),GG:34.63%(89/257),等位基因频率分布A:40.86%(210/514),G:59.14%(304/514);NT组AA分布15.06%(39/259),AG:51.35%(133/259),GG:33.59%(87/259),等位基因A:40.73%(211/518),G:59.27%(307/518),2组间差异均无统计学意义(P>0.05).不同基因型个体之间血压值的比较差异无统计学意义(P>0.05).分别按性别、体质量指数、年龄进行分层后,3种基因型频率在2组中的分布差异无统计学意义(P>0.05).Logistic回归分析结果 显示,T663A多态性与原发性高血压的发生不相关(P>0.05).结论 αENaC基因T663A多态性与新疆哈萨克族原发性高血压不相关.     

缓激肽β2受体基因启动子区-58T/C多态性与哈萨克族人原发性高血压的相关性分析

目的探讨在新疆哈萨克民族中缓激肽β2受体基因启动子区-58位基因多态性与原发性高血压的关系。方法运用聚合酶链反应-单链构象多态性分析(PCR-SSCP)、克隆测序等方法,对354例收缩压≥140mmHg和(或)舒张压≥90mmHg的原发性高血压哈萨克族患者和216例年龄、性别、族别相匹配的血压<140/90mmHg的正常血压者,分别进行缓激肽β2受体基因启动子区-58位基因多态性检测,观察不同基因型和等位基因频率在高血压患者组和正常血压对照组中的分布。结果新疆哈萨克族人缓激肽β2受体基因启动子区-58位存在TT、CC、TC3种基因型,各基因型在原发性高血压患者组和正常血压对照组的分布频率分别为0·29、0·29,0·15、0·22,0·56、0·49。T、C两种等位基因的分布频率分别为0·53、0·47和0·57、0·43。3种基因型和等位基因频率分布在两组间无统计学差异。结论新疆哈萨克族人缓激肽β2受体基因启动子区-58位基因多态性可能与哈萨克族人原发性高血压不相关。     

新疆哈萨克族转化生长因子β1基因多态性及其血浆水平与原发性高血压的关系

目的 研究新疆哈萨克族原发性高血压(essential hypertension,EH)患者转化生长因子β1(transforming growth factor-β1,TGF-β1)+869T/C、+915G/C基因多态性及血浆水平与EH的关系.方法 采用聚合酶链反应-限制性片段长度多态性和基因测序对新疆哈萨克族365名EH患者及435名正常对照组进行基因分型,用双抗体夹心法测量TGF-β1血浆浓度.结果 +915G/C位点基因型GG、GC及等位基因G、C频率依次为97.9%、2.1%、98.77%、1.23%,EH组与对照组差异无统计学意义(P＞0.05);+869T/C位点基因型TT、TC、CC及等位基因T、C在对照组中频率依次为25.97%、46.67%、27.36%、49.3%、50.7%,CC基因型及C等位基因频率在EH组中高于对照组(41.60%vs.27.36%、62.2%vs.50.7%),差异有统计学意义(P＜0.05),C等位基因携带者EH患病风险高于T等位基因携带者(OR=1.6O,P=0.00).+869T/C与+915G/C存在连锁不平衡,其形成的单倍型C-G在EH组中频率高于对照组(61.6%vs.49.8%,P＜0.05).+869T/C及+915G/C基因型、等位基因在EH组和对照组中TGF-β1血浆水平差异无统计学意义(P＞0.05).结论 新疆哈萨克族TGFβ1+915G/C基因变异频率很低,且不存在纯合变异,+869位点C等位基因可能是哈萨克族EH的遗传易感基因,+869T/C与+915G/C多态性位点存在连锁不平衡,两者构成的单倍型C-G是EH危险性因素.     

Hind Ⅲ、S447X基因多态性与新疆哈萨克族孕妇子痫前期的相关性研究

目的探讨脂蛋白酯酶(LPL)基因HindⅢ、S447X多态性与新疆哈萨克族孕妇子痫前期的相关性。方法收集孕28周后的哈萨克族、汉族子痫前期孕妇及哈萨克族正常孕妇(各50例)血液样本以及分娩后的胎盘组织,采用聚合酶链反应-限制性片段长度多态法、荧光实时定量PCR等技术检测三组孕妇脂蛋白酯酶HindⅢ、S447X基因型分布和胎盘组织脂蛋白酯酶m RNA含量。结果哈萨克族子痫前期孕妇H+H-/H-H-基因型、H-等位基因、SX/XX基因型、X等位基因频率分别为32.0%、20.0%、12.0%、6.0%显著低于哈萨克族正常孕妇的58.0%、44.0%、32.0%、24.0%(P0.05),而与汉族子痫前期孕妇的36.0%、24.0%、8.0%、8.0%(P0.05)无显著性差异。哈萨克族子痫前期孕妇胎盘组织中脂蛋白酯酶m RNA表达量显著低于哈萨克族正常孕妇(P0.01)。结论 LPL基因HindⅢ、S447X多态性与哈萨克族孕妇子痫前期发病及胎盘合成脂蛋白酯酶功能相关,其中,H+/H-基因型、H-等位基因、SX/XX基因型、X等位基因可能是子痫前期发病的保护因素。     

中国新疆地区汉族、维族健康儿童SCN5A基因单核苷酸多态性及其与先天性心脏病的关系

目的主要对钠离子通道基因(SCN5A基因)A29A和D1819D多态性与中国新疆地区汉族、哈萨克族、维吾尔族先天性心脏病(简称先心病)发病的相关性进行分析。方法健康儿童(健康组)350例(维吾尔族145例,汉族110例,哈萨克族95例),先心病儿童(先心病组)350例(维吾尔族145例,汉族110例,哈萨克族95例),进行聚合酶链反应扩增SCN5A基因所有外显子序列,对其产物进行核酸序列检测,对检测到的位点进行统计学分析。结果新疆地区儿童中发现9个单核苷酸多态位点(SNPs),通过对多态位点A29A和D1819D进行统计分析,汉族、哈萨克族、维吾尔族健康儿童中A29A和D1819D的基因型频率和等位基因频率差异有统计学意义(P0.05),汉族、哈萨克族基因型频率和等位基因频率差异无统计学意义(P0.05)。A29A和D1819D的等位基因频率和基因型频率在汉族、维吾尔族先心病组和健康组中分布均有统计学意义(P0.05),A29A等位基因频率和基因型频率在哈萨克族先心病组和健康组中分布均无统计学意义(P0.05),D1819D基因型频率也无统计学意义(P0.05),但等位基因频率有统计学意义(P0.05)。结论 SCN5A基因A29A、D1819D位点在新疆汉、维吾尔族先心病人群中存在多态性,D1819D可能在哈萨克族先心病人群中存在多态性,SCN5A基因可能是新疆地区先心病发病的易感基因。     

FTO基因rs9939609单核苷酸多态性与新疆哈萨克族超重及肥胖儿童的关联研究

目的 研究体脂量和肥胖症相关基因(fat mass and obesity associated gene,FTO)单核苷酸多态性与新疆哈萨克族学龄儿童超重及肥胖症的关系.方法 应用聚合酶链反应-限制性片段长度多态性的方法,对141例超重及肥胖(病例组)的哈萨克族学龄儿童和138名健康对照儿童FTO基因rs9939609位点进行分析,同时进行血糖、血脂、胰岛素测定.结果 FTO基因rs9939609在病例组和健康对照组中基因型频率分别为:AA型0.071和0.029,AT型0.511和0.428,TT型0.418和0.543,两组AA、AT和TT 3种基因型频率分布差异无统计学意义(x2=5.74,P=0.057),但AA+AT(突变纯合子+突变杂合子)在病例组[0.582(82/141)]明显高于对照组[0.457(63/138)],差异具有统计学意义(x2=4.368,P=0.037);且在两组人群中A等位基因频率差异具有统计学意义(x2=4.772,P=0.029).病例组中AA+AT基因型携带者的血糖水平[(4.88±0.51)mol/L]较TT基因型携带者[(4.68±0.56)mol/L]高,差异具有统计学意义.Logistic回归分析显示,A等位基因是超重及肥胖的独立危险因素(OR=0.527;95%CI:0.319～0.869).结论 体脂量和肥胖症相关基因第1内含子rs9939609多态性和新疆哈萨克族学龄儿童超重及肥胖的发生具有相关性.     

新疆吐尔扈特蒙古族人群血管紧张素转换酶（ACE）基因多态性分析

目的: 研究新疆地区吐尔扈特蒙古族人群血管紧张素转换酶(ACE)基因插入/缺失多态性分布情况.方法: 采用聚合酶链反应(PCR)分别检测 82例新疆地区吐尔扈特蒙古族正常人群样本的ACE I/D基因型, 分类计数进行统计学分析.结果: 新疆地区吐尔扈特蒙古族正常人的ACE基因3种基因型频率分别为: DD型 24.39%, ID型 26.83%, Ⅱ型 48.78%.D和I等位基因频率分别为37.80%和62.20%.结论: ACE基因多态性的分布与性别无关, 新疆地区吐尔扈特蒙古族人群ACE基因频率分布与日本人相近, 但DD型及D等位基因频率低于欧美人群.     

P53(rs1042522)基因多态性与子宫内膜异位症易感性的相关研究

目的 探讨肿瘤抑制基因P53 (tumor suppressor gene,P53)多态性与子宫内膜异位症(endometriosis,EM)遗传易感性的相关性.方法 应用等位基因特异性PCR技术结合DNA测序的方法对460例EM患者、650例无EM妇女(对照组)及113例子宫内膜癌患者的P53基因rs1042522位点(G/C)多态性进行分析.结果 各组均存在P53 (rs1042522) G/C多态性,且P53 (rs1042522)位点等位基因及基因型的分布在EM组与对照组之间差异有统计学意义(P值均小于0.01),其中等位基因C使EM发病风险提高1.179倍,等位基因G使其风险降低0.854倍；GC与GG基因型相比患EM的危险度增高1.548倍(95％CI为1.153～2.081),CC与GG基因型相比患EM的危险度增高1.865倍(95％CI为1.326～2.625).P53 (rs1042522)位点等位基因及基因型的分布在子宫内膜癌组与对照组之间差异有统计学意义(P值均小于0.01),且等位基因C使内膜癌发病风险提高1.278倍,而等位基因G使其风险降低0.772倍；GC与GG基因型相比患内膜癌的危险度增高2.074倍(95％CI为1.197～3.599),CC与GG基因型相比患内膜癌的危险度增高2.864倍(95％CI为1.557～5.263).P53 (rs1042522)位点等位基因及基因型的分布在EM组与子宫内膜癌组之间差异无统计学意义.结论 P53基因rs1042522位点(G/C)的单核苷酸多态性与EM遗传易感性存在相关性,且从遗传学角度分析,EM的发病机制可能更类似于肿瘤.     

血管紧张素Ⅱ-1型受体基因A1166C多态性与心房颤动并发症相关性研究

目的：探讨遗传背景对心房颤动（atrial fibrillation,AF）发生、发展的影响。方法：房颤组121例、对照组100例,聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法鉴定AT1R基因1166位点基因型并对房颤组做彩色超声心动图进行比较,Logistic回归分析基因型对房颤的独立危险性。结果：房颤组AC＋CC基因型频率、C等位基因频率均较对照组增高（P分别为0.017、0.013）,与AA型相比,AC型＋CC型者发生AF的风险率为3.657（95%CI：1.181-11.322）,基因型、收缩压参与增加总体AF发生的概率（P分别为0.019、0.002）,以AA型为参照,AC型＋CC型发生AF的OR为4.132（95%CI：1.263-13.513）。②AF患者有无心衰、脑栓塞并发症病史基因型频率及等位基因频率比较差异无显著性（P〉0.05）,AF患者心脏超声指标AA型者与AC型＋CC型者比较差异无显著性（P〉0.05）。结论：携带AT1R基因1166位点C等位基因者有增加发生AF风险的倾向,但与病程发展中心脏结构、功能改变以及心力衰竭、脑栓塞等并发症无显著性关系。     

Angiotensin-converting enzyme gene 2350 G/A polymorphism and susceptibility to atrial fibrillation in Han Chinese patients with essential hypertension

OBJECTIVE:

The angiotensin-converting enzyme gene is one of the most studied candidate genes related to atrial fibrillation. Among the polymorphisms of the angiotensin-converting enzyme gene, the 2350 G/A polymorphism (rs4343) is known to have the most significant effects on the plasma angiotensin-converting enzyme concentration. The aim of the present study was to investigate the association of the angiotensin-converting enzyme 2350 G/A polymorphism with atrial fibrillation in Han Chinese patients with essential hypertension.

METHODS:

A total of 169 hypertensive patients were eligible for this study. Patients with atrial fibrillation (n = 75) were allocated to the atrial fibrillation group, and 94 subjects without atrial fibrillation were allocated to the control group. The PCR-based restriction fragment length polymorphism technique was used to assess the genotype frequencies.

RESULTS:

The distributions of the angiotensin-converting enzyme 2350 G/A genotypes (GG, GA, and AA, respectively) were 40.43%, 41.49%, and 18.08% in the controls and 18.67%, 46.67%, and 34.66% in the atrial fibrillation subjects (p = 0.037). The frequency of the A allele in the atrial fibrillation group was significantly greater than in the control group (58.00% vs. 38.83%, p = 0.0007). Compared with the wild-type GG genotype, the GA and AA genotypes had an increased risk for atrial fibrillation. Additionally, atrial fibrillation patients with the AA genotype had greater left atrial dimensions than the patients with the GG or GA genotypes (p<0.01 and p<0.05, respectively).

CONCLUSIONS:

The results obtained in this study indicate that the angiotensin-converting enzyme 2350 G/A polymorphism is associated with atrial fibrillation and that the A allele shows an increased risk for atrial fibrillation in Han Chinese patients with essential hypertension.     

Association of CETP and CRP gene polymorphisms with non-valvular atrial fibrillation in Chinese Han population

OBJECTIVE: To study whether the polymorphisms of TaqIB of cholesteryl transfer protein (CETP) gene and 1444C/T of C reactive protein (CRP) gene are associated with non-valvular atrial fibrillation in the Chinese Han population. METHODS: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used to detect the distribution of genotypes of CETP TaqIB and CRP 1444C/T in 147 patients with non-valvular atrial fibrillation and 147 control subjects in Chinese Han population. RESULTS: (1) The distribution of CETP TaqIB and CRP 1444C/T genotypes was in Hardy-Weinberg equilibrium. (2) A statistically significant difference between patients and controls for CETP TaqIB (P= 0.005, OR= 0.614, beta = -0.488) and CRP 1444C/T (P= 0.003, OR= 2.428, beta = 0.887) was observed. (3) In female group, significant difference was observed in smoking, CETP TaqIB and CRP 1444C/T polymorphisms. And in male group, significant difference was observed in body mass index and CETP TaqIB polymorphisms. CONCLUSION: (1) These results suggest that CETP TaqIB (B2 allele as protective factor) and CRP1444C/T (T allele as risk factor) genetic polymorphisms may be associated with the non-valvular atrial fibrillation in the Chinese Han population. (2) Smoking and CRP1444T single nucleotide polymorphism may induce hereditary susceptibility to non-valvular atrial fibrillation in female. Obesity may induce hereditary susceptibility to non-valvular atrial fibrillation in male.     

Association of the dopamine transporter gene (DAT1) core promoter polymorphism -67T variant with schizophrenia.

Dysfunction of the central dopaminergic neurotransmission has been suggested to play an important role in the etiology of schizophrenia. The dopamine transporter (DAT1) mediates the active reuptake of dopamine from the synapses and thereby plays a key role in the regulation of the dopaminergic neurotransmission. In this study, we sought to determine the possible association of the DAT1 gene core promoter polymorphism -67A/T with schizophrenia in a case/control study. The allele and genotype frequencies of the polymorphism were studied in 100 patients and 100 controls, which were matched on the basis of sex, age, and ethnicity. The genotype frequencies in the patients group were as follows: AA 29%; AT 59%; TT 12% versus the genotype frequencies in the control group: AA 57%; AT 38%; TT 5% [chi2 = 16.54, df = 2, OR = 2.25 (95% CI 1.46-3.45, P < or = 0.0003]. For the first time, these findings provide tentative evidence for the contribution of the DAT1 gene core promoter polymorphism to the etiopathophysiology of schizophrenia at least in the Iranian male population that we studied. Replication studies of independent samples and family-based association studies are necessary to further evaluate the significance of our findings.     

汉族人群胆固醇酯转运蛋白基因和C反应蛋白基因多态性与非瓣膜性房颠的关联

目的 研究胆固醇酯转运蛋白(cholesteryl ester transfer protein,CETP)基因TaqIB、C反应蛋白(C reactive protein,CRP)基因1444C/T单核苷酸多态性(single nonucleotide polymorphism,SNP)与汉族非瓣膜性房颤的相关.方法 选取非瓣膜性房颤患者147例、病例对照147例,应用聚合酶链反应-限制性内切酶片段长度多态性鉴定基因型.结果 CETP TaqIB(P=0.005,OR=0.614,B=-0.488)和CRP 1444C/T(P=0.003,OR=2.428,β=0.887)遗传多态性在病例组和对照组间差异有统计学意义.根据性别分组:女性组,吸烟、CETP TaqIB、CRP 1444C/T病例对照间差异有统计学意义;男性组,体重指数和CETP Taq IB病例对照间差异有统计学意义.结论 中国汉族CETP TaqIB (B2等位基因为保护性因子)和CRP1444C/T(T等位基因为危险因子)多态性可能与非瓣膜性房颤相关.吸烟、CRP 1444C/T多态性可能增加女性非瓣膜性房颤遗传易感性;肥胖可能增加男性非瓣膜性房颤遗传易感性.     

中国汉族人芳香二烷基磷酸酯酶基因启动子多态性与冠心病的关系

芳香二烷基磷酸酯酶（paraoxonase,PON1)基因启动子区－108（C／T）多态性与人类冠心病（CHD）及其血脂水平的关系。采用多聚酶链反应－限制性长段多态性的分析方法（PCR－RFLP）检测CHD患者PON1基因启动子区－108位点的多态性。结果显示PON1启动子区－108位点存在多态性，出现三种基因型：TT，TC和CC。各等位基因的分布在正常对照组及CHD组之间存在显著性差异，且CC基因型的分布在两组间也有显著差异（P＜0．05）。正常对照组与CHD组间各基因型血浆Apo AI水平无显著性差异；CHD组CC纯合子的血浆高密度脂蛋白胆固醇（HDL－C）水平明显低于对照组（P＜0．05），而两组间TT纯合子和TC杂合子的HDL－C水平无统计学差异。说明该多态性可能与CHD有一定的相关性。     

Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics

Long-QT syndrome (LQTS) may cause syncope and sudden death due to cardiac tachyarrhythmia. Chromosome 7-linked LQTS (LQT2) has been correlated with mutations in the human ether-a-go-go-related gene (HERG). HERG forms voltage-gated K channels that may be associated with Mink-related peptide 1 (MiRP1), an auxiliary beta-subunit. The channels mediate currents that resemble native I(Kr). Mutations in the KCNE2 gene encoding MiRP1 may also cause LQTS. In this study, the frequency of mutations in KCNE2 of 150 unrelated LQTS patients without known genotype and of 100 controls was analyzed using single-strand conformation polymorphism analysis and direct sequencing. We identified a novel missense mutation, V65 M, in the KCNE2 gene of a 17-year-old female with syncope and LQTS. Expression studies in Chinese hamster ovary cells revealed that mutant and wild-type MiRP1 co-localized with HERG subunits and formed functional channels. However, mutant HERG/MiRP1(V65M) channels mediated currents with an accelerated inactivation time course compared with wild-type channels. The accelerated inactivation time course of HERG/MiRP1(V65M) channels may decrease I(Kr) current density of myocardial cells, thereby impairing the ability of myocytes to repolarize in response to sudden membrane depolarizations such as extrasystoles.     

Is the CCR5-59029-G/G genotype a protective factor for cardiomyopathy in Chagas disease?

Investigated were two CCR5 gene polymorphisms, the CCR5 Delta 32 deletion and the pCCR5 59029 A-->G promoter point mutation, in 107 ethnically mixed Venezuelan patients serologically positive for Trypanosoma cruzi (34 asymptomatic, 38 arrhythmic, 35 cardiomyopathic). No difference in the distribution of CCR5 Delta 32 among asymptomatic and symptomatic patients was found. We have observed an increase of the 59029-G phenotype among asymptomatic compared with symptomatic chagasic patients (68% vs. 58%), in agreement with previously reported data (57% vs. 31%). This frequency difference, although not statistically significant, is more marked when the 59029-G allele is present in homozygous form. However, a similar distribution of the G/G genotype is present among asymptomatic patients and patients with heart failure. Because it has been reported that the 59029G/G genotype associates with lower CCR5 expression, 37% of our T. cruzi-infected patients with heart failure are genetically predisposed to express low levels of CCR5 on the surface of CD8(+) T cells, contrary to what would be expected if an inflammatory response is required for severe cardiac damage. If confirmed, the possible protection that might be conferred by the G/G genotype may be due to the existence of other genes in linkage disequilibria.     

TLR4受体基因多态性与子宫内膜异位症相关性探讨

目的 研究TLR4受体基因多态性与子宫内膜异位症的相关性.方法 选取2013年1月至2016年1月我院妇科收治的220例手术患者为研究对象,其中120例EM患者为病例组,按照美国生育学会EM分期标准(r-AFS)分期,Ⅰ~Ⅱ期患者为67例,Ⅲ~Ⅳ期患者为53例,100例同期手术妇女为对照组.对患者血液中DNA进行采集,分析TLR4受体基因多态性与子宫内膜异位症的相关性.结果 在对两组患者基因型研究结果显示,纯合子Asp299Gly基因型在病例组的检出结果110(0.92)高于在对照组患者中的检出结果23(0.23)P<0.05,差异具有显著统计学意义,纯合子Thr/Ile在病例组检出结果111(0.92)高于在对照组检出结果20(0.20),P<0.05,差异具有统计学意义.在对不同分期EM患者基因型研究结果显示,纯合子Asp299Gly基因型和Thr/Ile基因型在III~IV期的检出结果0.92高于在I~II期患者中的检出结果0.88,P<0.0,提示差异具有显著统计学意义.结论 TLR4基因多态性与子宫内膜异位症存在相关性,可以作为子宫内膜异位症诊断的辅助手段.