偏头痛患者5-羟色胺2A受体启动子区T102C基因多态性的研究

目的 探讨5-羟色胺2A受体(5-HT2AR)基因T102C多态性与哈尔滨地区汉族人偏头痛的关系.方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测204例偏头痛患者及186例健康对照者5-HT2AR基因启动子区域T102C多态性.结果 偏头痛患者中T/T,T/C,C/C分布为29.9%,53.9%和16.2%,正常对照中T/T,T/C,C/C分布为35.0%,48.9%和16.1%,两组间无显著性差异(P>0.05).偏头痛患者的等位基因频率为102T 56.9%,102C 43.1%,正常对照组为102T 59.4%,102C 40.6%,两组间无显著性差异(P>0.05).结论 5-HT2AR基因启动子区域T102C基因多态性与哈尔滨地区汉族人偏头痛的发生无相关性.

Abstract：

Objective To investigate the association between 5-HT2A receptor (5-HT2AR) promoter T102C gene polymorphism and migraine in Han nationality, Harbin. Methods Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP)analysis were applied to determine the genotypes at the promoter 102 of 5-HT2AR gene in 204 migraine patients and 186 controls. The genotype distribution and allele frequencies among different groups were compared. Results The genotype T/T,T/C,C/C distribution of the 5-HT2AR were 29.9% ,53.9% and 16.2% in migraine patients,and were 35.0% ,48.9% and 16.1% in controls (P > 0.05). The allele frequencies of 5-HT2AR in migraine patients were 56.9% for 102T,43.1% for 102C,and 59.4% for 102T,40.6% for 102C in controls (P > 0.05 ).Conclusion The polymorphism of 5-HT2AR promoter T102C gene was not significantly associated with migraine among Han nationality,in Harbin, China.     

趋化因子受体CCR2b基因G190A多态性与脑梗死关系的研究

目的 探讨趋化因子受体CCR2b基因G190A多态性与中国福建地区汉族人群脑梗死(cerebral infarction,CI)的关系.方法 采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)和DNA序列测定法检测200例CI及200名健康对照者趋化因子受体CCR2b基因G190A多态性分布,对两组之间的基因型频率和等位基因频率进行比较.结果 CI组趋化因子受体CCR2b基因G190A多态位点的基因型和等位基因频率分布与对照组比较差异有统计学意义(P<0.05).脑梗死组GG、GA、AA基因型频率分别为83.5%、15.0%、1.5%;G、A等位基因频率分别为91.0%、9.0%.正常对照组GG、GA、AA基因型频率分别为73.0%、22.5%、4.5%;G、A等位基因频率分别为84.3%、15.7%.脑梗死组GG基因型和G等位基因频率高于对照组(P<0.05).结论 趋化因子受体CCR2b基因G190A多态性与脑梗死的发病具有相关性,G等位基因可能是中国福建地区汉族人群脑梗死发病的遗传易感基因.

Abstract：

Objective To investigate the relationship between chemokine receptor CCR2b gene G190A polymorphism and cerebral infarction(CI)of Han population in Chinese Fujian district.Methods The G190A polymorphism in ccr2b gene was detected by polymerase chain reaction-restriction fragment length polymorphism analysis(PCR-RFLP)and DNA sequencing in 200 patients with CI(CI group)and 200 normal controls(NC group).Results There were significant differences in frequencies of allele and genotype of CCR2b G190A gene polymorphism between CI and control groups(P<0.05).In CI group,genotypic frequency of GG Was 83.5%,GA wag 15.0%,AA Was 1.5%.The allele frequency of G Was 91.0%and A was 9.0%.In NC group,genotypic frequency of GG WaS 73.0%,GA was 22.5%,AA was 4.5%.The allele frequency of G was 84.3%and A was 15.7%.The frequencies of CCR2b 190GG genetype and G allele in CI group were siginificantly higher than that in NC group(P<0.05).Conclusions There was association between CCR2b gene G190A polymorphism and cerebral infarction(CI)in Chinese Fujian district Han populations.The CCR2b G190 allele may be a genetic risk factor for cerebral infarction of Hart populations in Chinese Fujian district.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

难治性癫痫与多药耐药基因1C3435T多态性的相关性

目的 探讨多药耐药基因1(MDR1)C3435T位点多态性与汉族难治性癫痫(RE)的关系. 方法 收集170例诊断明确、治疗合理的汉族癫痫患者,根据是否符合RE诊断标准将其分为RE组(91例)和非RE组(79例).RE定义为:至少观察2年,按患者发作类型正确使用≥2种对该发作类型有效的抗癫痫药物,单药前、后分别使用或联合使用,仍每月发作≥1次达2年及以上者.采用多聚酶链反应限制性片段长度多态性方法检测患者外周血MDR1基因C3435T多态性. 结果 RE组CC、CT、TT基因型分别占48.4%、40.7%、11.0%,非RE组分别占40.5%、38.0%、21.5%,总体差异无统计学意义(x2=3.615,P=0.164).RE组患者C3435T等位基因C、T频率分别为68.7%、31.3%,非RE组患者分别为59.5%、40.5%,差异也无统计学意义(x2=3.112,P=0.080).根据病因将患者分为原发性癫痫、症状性或隐源性癫痫2组,结果示2组患者中RE亚组和非RE亚组C3435T基因型分布、等位基因频率差异均无统计学意义(P＞0.05). 结论 本研究未发现MDR1基因C3435T多态性与汉族RE有关.

Abstract：

Objective To clarify the relation between the C3435T polymorphism of multidrug resistance 1 (MDR1) gene and human refractory epilepsy (RE) in ethnic Han Chinese. Methods We collected 170 patients with epilepsy, whose diagnoses were correct and treatments were reasonable. RE was defined as having uncontrolled seizures that occurred with an average frequency of at least once a month for a period of at least 2 years; during the 2-years period, at least 2 different antiepileptic drugs (AEDs) were used daily, either singly or in combination. According to the definition, 91 patients were classified into RE group and the other 79 patients into non-RE group. A 5-mL venous blood sample was taken from the patients for DNA extraction and genotyping. Genotype of C3435T polymorphism in MDR1 gene was determined by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP). Results The distribution of CC, CT, TT genotypes was 48.4%, 40.7%,11.0% in RE group, and 40.5%, 38.0%, 21.5% in non-RE group, respectively; no significant differences of C3435T genotype were noted between the 2 groups (x2=3.615, P=0.164). The C and T allele frequencies were 68.7%, 31.3% in RE group, and 59.5%, 40.5% in non-RE group, respectively; no significant differences were found between 2 groups (x2=3.112, P=0.080). Patients were divided into primary epilepsy group and cryptogenic or symptomatic epilepsy group according to the etiology;analyses of the genotype and allele of C3435T in the sub-groups (RE and non-RE subgroups) of this 2 groups were similarly unremarkable. Conclusion No association between the C3435T polymorphism in MDR1 gene and RE in ethnic Han Chinese is noted.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

新疆地区维、汉族缺血性脑卒中患者磷酸二酯酶4D基因单核苷酸多态性的研究

目的探讨新疆地区维、汉族缺血性脑卒中患者磷酸二酯酶4D(PDE4D)基因87位点的单核苷酸多态性(SNP)。方法采用PCR限制性片段长度多态性(PCR-RFLP)和基因测序方法检测226例缺血性脑卒中患者(病例组,维族110例,汉族116例)和220例无神经系统疾病的患者(对照组,维族102例,汉族118例)PDE4D基因87位点的多态性。对各组基因型分布和等位基因频率进行比较。结果病例组与对照组PDE4D基因87位点的基因型分布比较,差异无统计学意义;病例组PDE4D基因87位点C等位基因频率明显高于对照组(P<0.05)。病例组维族亚组PDE4D基因87位点CC型的比率及C等位基因频率明显高于对照组维族亚组(均P<0.05);病例组汉族亚组PDE4D基因87位点CC型的比率及C等位基因频率明显高于对照组汉族亚组(均P<0.05)。病例组中,维族亚组与汉族亚组PDE4D基因87位点的基因型分布及等位基因频率比较,差异无统计学意义;对照组中,维族亚组与汉族亚组PDE4D基因87位点的基因型分布及等位基因频率比较,差异亦无统计学意义。结论 PDE4D基因87位点C等位基因频率增高可能增加缺血性脑卒中发生的风险,此风险在新疆地区维、汉族人群中没有差异。     

载脂蛋白A5-1131T>C基因多态性与脑卒中的关系

目的 探讨载脂蛋白(Apo)A5-1131T>C基因多态性与脑卒中的关系. 方法 对327例脑卒中患者(其中脑梗死患者194例,脑出血患者133例)及311名健康对照者的ApoA5-1131T>C基因多态性及血脂水平进行检测. 结果 脑梗死患者的-1131C等位基因频率明显高于对照者,差异有统计学意义(P<0.05);脑出血患者与对照者比较,差异没有统计学意义(p>0.05).在脑卒中患者中,C等位基因携带者的甘油三酯(TG)水平明显高于非C携带者.差异有统计学意义(p<0.05),总胆固醇(TC)、高密度蛋白胆固醇(HDDC)和低密度脂蛋白胆固醇(LDL-C)比较差异无统计学意义(p>0.05).LOgistic回归单变量分析显示TC+CC基因型与脑梗死风险增加相关,与脑出血无关;校正体重指数(BMD、高血压、糖尿病和HDL-C等相关因素的影响后.C等位基因仍显示为脑梗死的独立危险因素(OR=1.932,95%CI为1.057-3.532,P=0.032).结论 脑梗死患者ApoA5-1131C等位基因携带率明显高于对照者,ApoA5-1131T>C基因多态性对血清TG水平有影响.ApoA5-1131T>C基因变异可能增加缺血性脑卒中的易感性.     

An Intronic CYP46A1 Polymorphism Is Associated with Alzheimer Disease in a Chinese Han Population

Excess cholesterol is removed from the brain via hydroxylation mediated by cholesterol 24S-hydroxylase (CYP46), which is a mechanism of maintaining cholesterol homeostasis in the brain. The CYP46A1 gene has been suggested as a genetic risk factor for sporadic late-onset Alzheimer's disease (AD). In this report, we analyzed an intronic CYP46A1 single nucleotide polymorphism (SNP) in 508 sporadic AD patients and 549 controls in a Chinese Han population. Our results indicated that the distribution of CYP46A1 SNP rs754203 genotypes was significantly different in AD patients compared to controls (χ(2)?=?6.59, P?=?0.037). The frequency of at least one of CYP46A1 T allele (C/T or T/T) was higher in AD patients compared to controls (χ(2)?=?6.58, P?=?0.01). The age- and sex-adjusted odds ratio for the risk of AD in carriers of CYP46A1 T allele (C/T + T/T) was 1.69 (95?% confidence interval, 1.12-2.56). We conclude that this intronic polymorphism in CYP46A1 gene is associated with AD in a Chinese Han population, and the CYP46A1 T allele might be a risk factor for AD.     

807C/T polymorphism of platelet glycoprotein Ia gene is associated with cerebral hemorrhage in a Chinese population

Platelet glycoprotein (GP) mediated the role of platelet in coagulation. Platelet GP Ia 807C/T is the only GP polymorphism associated with the expression levels of GP Ia/IIa (the platelet collagen receptor). Recently, the GP Ia 807C/T polymorphism has been reported to have no association with cerebral hemorrhage (CH) in two studies pertained to Caucasian populations. The purpose of this study is to evaluate the association between platelet GP Ia 807C/T polymorphism and CH in a Han Chinese population. We performed genotype analysis for platelet GP Ia 807C/T polymorphism in a case-control study involving 195 patients with CH and 116 age- and sex-matched controls. In contrast to previous reports, we found that the frequencies of GP Ia 807C/T T allele, CT and TT genotype were much higher in CH patients than in controls (33.9% vs. 22.8%, p = 0.004; 45.5% and 11.1% vs. 40.4% and 2.6%, p = 0.022). Logistic regression analysis revealed that the presence of GP Ia 807C/T C allele and CC genotype were both associated with a decreased risk of CH compared with T allele, CT and TT genotypes, respectively (adjusted odds ratio [OR] = 0.565, 95% CI: 0.384–0.887, p = 0.005; adjusted OR = 0.172, 95% CI: 0.043–0.639, p = 0.009; adjusted OR = 0.254, 95% CI: 0.085–0.961, p = 0.041, respectively). These findings indicated that platelet GP Ia 807C/T polymorphism could be a protective factor of CH in the Chinese population.     

同型半胱氨酸及亚甲基四氢叶酸还原酶基因多态性与缺血性卒中的关系研究

目的 探讨同型半胱氨酸（homocysteine,Hcy）水平及亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因多态性与缺血性卒中（ischemic stroke,IS）的关系,并分析Hcy与叶酸、 VitB12之间的相关性。 方法 运用酶循环法和聚合酶链式反应（polymerase c hain r eaction,PCR）-芯片杂交法分别检测217 例IS患者和223例对照者血浆Hcy与MTHFR C667T基因型,并对照分析两组的基因型频率和等位基因 频率分布差异及血浆Hcy水平;运用免疫分析法检测两组中既往未服用过含叶酸和VitB12药物的88例 I S患者和125例对照者血清叶酸、Vi tB12水平,并与Hcy水平进行相关性分析。 结果 IS组Hcy浓度高于对照组,差异有显著性（[ 23.95±12.13）μmol/L vs（17.31±7.20）μmol/L, t =29.61,P＜0.001],IS组与对照组MTHFR 基因型频率CC、CT、TT型分别为14.3％、44.7％、41.0％和 18.4％、48.9％、32.7％,等位基因C与T的频率分别为36.6％、63.4％和42.8％、57.2％,无显著性差 异（基因型频率：χ 2=3.59,P =0.166;基因频率：χ 2=3.52,P =0.061）。MTHFR基因TT型（162例）、CT 型（206例）和CC型（72例）的血浆Hcy水平分别为（25.19±12.53）μmol/L、（18.21±8.08）μmol/L和 （16.65±6.90）μmol/L,其中TT型显著高于CT型和CC型,CT型显著高于CC型（P 均＜0.001）。I S组和对 照组血浆Hcy水平与VitB12呈负相关（I S组和对照组分别为r =-0.431,P＜0.001和r =-0.507,P＜0.001）, 与叶酸亦呈负相关（IS组和对照组分别为r =-0.489,P＜0.001和r =-0.446,P＜0.001）。 结论 IS患者血浆Hcy水平较正常人偏高;MTHFR C667T基因突变、叶酸和VitB12水平降低是血浆Hcy 水平升高的影响因素;MTHFR C667T基因突变可能与缺血性卒中无关。     

血小板膜糖蛋白Ibα基因启动子上游"Kozak"多态性与脑梗死的相关性研究

目的研究中国雷州半岛地区汉族人群血小板膜糖蛋白(GP)Ibα基因ATG启动子上游25bp处"Koza"多态性位点与脑梗死的关系.方法采用病例-对照研究,选择中国雷州半岛地区汉族人群130例健康体检者(对照组)和148例经CT或MRI证实的脑梗死患者(CI组)为对象,用聚合酶链反应-限制性酶切片段长度多态性分析方法(PCR-RFLP)检测血小板膜糖蛋白(GP)Ib Kozak-5T/C序列基因多态性,分析其在正常人群及脑梗死患者中的频率分布特点及与缺血性脑卒中的关系.结果CI组GPIb Kozak序列C等位基因频率为0.487,对照组为0.396,两组比较差异有显著性(P＜0.05);-5C基因纯合子携带者发生脑梗死的风险是T/T或T/C基因携带者的2.0倍,经Logistic回归分析校正了年龄、血压、血脂等危险因素后,-5C纯合子与脑梗死仍密切相关(P＜0.05,OR=2.885,95%CI1.135-8.307).结论中国雷州半岛地区汉族人群GPIb Kozak序列-5T/C基因多态是脑梗死的遗传易感因素.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

目的 探讨铁调节蛋白2(IRP2)基因2616C/T多态性与阿尔茨海默病(AD)、血管性痴呆(VD)的关系.方法 用聚合酶链反应-限制性片段长度多态性技术检测281例AD、60例VD患者及285名正常老年人的IRF2基因2616C/T多念性分布,并评定简易精神状态检查表(MMSE);将AD患者按临床痴呆评定量表(CDR)评分分为轻度痴呆组(CDR=1分,72例)和中重度痴呆组(CDR=2分或3分,209例),比较各组间IRP2基因2616C/T多态性.结果 (1)AD组与对照组基因型(χ2=2.46)及等位基因(χ2=2.17)总体分布差异无统计学意义(P>0.05);而中重度AD组携带T等位基因的基因型频率(78.0%)高于对照组(69.8%;χ2=4.106,P<0.05),Logistic回归分析其中携带含T等位基因的基因型患者的比值比=1.62(95%可信区间=1.03～2.54).VD组携带含T等位基因型频率和T等位基因频率虽高于对照组,但未达统计学意义(P>0.05).(2)中重度AD患者T/T基因型频率(25.8%)和T等位基因频率(51.9%)高于轻度AD患者(分别为12.5%和40.3%),差异均有统计学意义(χ2=5.477和5.803,P<0.05).(3)携带T/T基因型的AD患者MMSE评分低于C/C基因型者(P=0.028)和C/T基因型者(P=0.014).结论 IRP2基因2616C/T多态性与中重度AD相关,而与VD可能无关联;T/T基因型可能是AD患者认知功能损害的危险因子.     

Interleukin-1A ?889C/T polymorphism and risk of Alzheimer’s disease: a meta-analysis based on 32 case–control studies

The Interleukin-1A (IL-1A) -889C/T polymorphism has been reported to be associated with Alzheimer's disease (AD) susceptibility, but the results of these previous studies have been inconsistent. The aim of this study was to explore whether the IL-1A -889C/T polymorphism confers susceptibility to AD. All studies published up to July 2011 on the association between the IL-1A -889C/T polymorphism and AD risk were identified by searching electronic databases PubMed, Embase and Alzgene. The association between the IL-1A -889C/T polymorphism and AD risk was assessed by odds ratios (ORs) together with their 95% confidence intervals (CIs). A total of 32 case-control studies including 7,046 AD cases and 7,534 controls were eventually identified. Overall, positive associations of the IL-1A -889C/T polymorphism with AD risk were found in allele comparison T versus C (OR = 1.019, 95% CI= 1.027-1.198), recessive model TT versus CT + CC (OR = 1.278, 95% CI = 1.073-1.522) and dominant model TT + CT versus CC (OR = 1.102, 95% CI = 1.013-1.200). In subgroup analysis stratified by ethnicity, significant associations were demonstrated in Caucasians but not in Asians. In subgroup analysis according to the age of onset, no significant association was detected. The present meta-analysis suggests that the IL-1A is a candidate gene for AD susceptibility. The IL-1A -889C/T889C/T polymorphism may be a risk factor for AD in Caucasians. Further investigations taking the APOE ε4 status and other confirmed genetic factors and potential gene-gene and gene-environmental interactions into consideration for this polymorphism should be conducted.     

维吾尔族阿尔茨海默病患者低密度脂蛋白受体相关蛋白基因766C/T多态性及血脂水平的研究

目的 研究新疆维吾尔自治区维吾尔族(以下简称维族)阿尔茨海默病(AD)患者低密度脂蛋白受体相关蛋白(LRP)基因766C/T多态性及血脂水平.方法 在流行病学调查基础上,采用美国国立神经病学和语言障碍与脑卒中研究所-阿尔茨海默病和相关障碍协会制定的标准,诊断为很可能AD的患者111例和正常对照者117名,应用聚合酶链反应-限制性片段长度多态性分析方法,检测两组LRP基因766C/T多态性;并用氧化酶法测定总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)的水平.结果 (1)AD组LRP基因第766位点CC、CT、TT基因型频率(X2=1.563)和等位基因频率(X2=1.591)与对照组比较,差异均无统计学意义(P均>0.05).(2)AD组血清TC水平[(4.4±0.7)mmol/L]高于对照组[(4.2±0.6)mmol/L;t=2.234,P<0.05],TG水平[(1.81±0.33)mmol/L]亦高于对照组[(1.61±0.52)mmoL/L;t=2.360,P<0.05].(3)AD组[(1.83±0.34)mmol/L]和对照组CC基因型者的血清TG水平[(1.67±0.54)mmol/L]均高于CT+TT型者[分别为(1.66±0.24)mmol/L和(1.41±0.39)mmol/L;t:2.275,2.161,P<0.05].结论 LRP基因766C/T基因型频率和等位基因频率在AD组和对照组间的分布相似;AD患者存在脂质代谢素乱,LRP基因766C/T多态性可能对血脂代谢有影响.