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。     

中国人群脂联素＋45位点基因单核苷酸多态性与缺血性脑卒中易感性的Meta分析

目的 通过Meta分析评估中国人脂联素基因＋45T＞G单核苷酸多态性（SNP）与缺血性脑卒中易感性的关系.方法 计算机检索Pubmed、Cochrane、中国期刊全文数据库（CNKI）及万方数据库中关于中国人群脂联素基因＋ 45T＞G SNP与缺血性脑卒中的相关性研究,对符合纳入标准的文献采用Rev Man5.2软件进行分析.结果 共纳入6篇文献,1604例患者.分析显示如下遗传模型中的差异明显,即等位基因模型（G VS.T）：OR=1.34,95％CI（1.04,2.72）;共显性模型（GG VS.TT）：OR=1.71,95％CI （1.27,2.30）;隐性模型（GG VS.F＋ TT）：OR=1.82,95％ CI（1.18,2.82）;显性模型（TG＋ GGVS.TT）：OR=1.22,95％CI （1.05,1.42）.结论 中国人群脂联素基因＋45T＞G SNP与缺血性脑卒中易感性相关,G等位基因可能为缺血性脑卒中的危险因素.     

磷酸二酯酶4D基因rs33395位点与维吾尔族和汉族缺血性脑卒中的相关性研究

目的：探讨中国维吾尔族和汉族人群中,磷酸二酯酶4D（pde4d）基因rs33395位点的多态性与缺血性脑卒中的相关性。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病例组（226例缺血性脑卒中患者,其中维吾尔族110例、汉族116例）和对照组（220例无神经系统疾病的患者,其中维吾尔族102例、汉族118例）的pde4d基因rs33395多态性。并对各组基因型分布和等位基因频率进行比较。结果：在病例组和对照组中,CT基因型分布频率最高,T等位基因分布频率高于C等位基因;但各组中,维吾尔族与汉族两民族间及同民族内部基因型和等位基因频率的分布均差异无统计学意义（P〉0.05）。结论：pde4d基因rs33395可能与维吾尔族、汉族缺血性脑卒中无相关性。     

中国汉族人群5-羟色胺2C受体基因rs518147位点多态性与强迫症的关联性

目的:探讨中国汉族群体5-羟色胺2C受体基因(5-HTR2C)启动区相关单核苷酸多态(SNP)位点rs518147多态性的分布状况及其与强迫症之间的关系。方法:采用直接测序法分析中国汉族群体符合中国精神障碍分类与诊断标准第3版或国际疾病分类第10版强迫症诊断标准的患者308例(强迫症组:男123例,女185例)和410名健康对照(对照组:男175名,女235名)5-HTR2Crs518147位点半合子(男性)或基因型(女性)分布频率,并分析半合子(男性)或基因型(女性)分布频率与强迫症发病的遗传易感性的关系。结果:强迫症组中5-HTR2C启动区rs518147位点男性患者携带G半合子与女性患者携带G+(GG与GC)基因型的比率均显著高于对照组(男性:χ2=4.973,P=0.026;女性:χ2=5.243,P=0.022),G等位基因的频率明显高于对照组(χ2=4.611,P=0.032)。结论:中国汉族群体中5-HTR2C启动区rs518147位点多态性可能与强迫症遗传易感性相关。     

ABCG1基因多态性与中国汉族人群缺血性脑卒中的相关性研究

目的探讨ATP结合盒G亚组成员1(ABCG1)的基因多态性与缺血性脑卒中的相关性。方法采用病例-对照方法,在中国北方汉族人群中收集389例缺血性脑卒中患者(病例组)与380名正常体检者(对照组)进行对照研究。按改良的TOAST分型将病例组分为动脉粥样硬化血栓形成型亚组(207例)和小动脉闭塞型亚组(182例),采用聚合酶链式反应-连接酶检测方法测定ABCG1基因rs225374位点的多态性。结果在动脉粥样硬化血栓形成型亚组,rs225374位点GG基因型和G等位基因分布频率显著高于对照组(25.6%vs 17.9%,P=0.030;49.8%vs 43.4%,P=0.037);小动脉闭塞型亚组与对照组比较,rs225374位点的基因型和等位基因分布频率差异无显著性。结论 ABCG1基因rs225374位点的多态性与中国北方汉族人群动脉粥样硬化血栓形成性缺血性脑卒中的发病具有一定相关性。     

纤维蛋白原基因多态性与缺血性脑卒中

纤维蛋白质既参与血液凝固,又参与血液流变学特征的变化,流行病学调查和临床研究发现血浆纤维蛋白原水平增高可能是缺血性心脑血管疾病发病的一个独立危险因素.同时发现纤维蛋白原某些基因多态性与血浆纤维蛋白原水平相关.本文就纤维蛋白原及其基因单核苷酸多态性与缺血性脑卒中的研究进展做以下综述.     

TPH2基因rs7305115单核苷酸多态性与抑郁症自杀未遂的关联研究

目的探讨色氨酸羟化酶2(TPH2)基因rs7305115单核苷酸多态性与抑郁症自杀未遂的关系。方法选取106例抑郁症自杀未遂者为研究对象,122例抑郁症无自杀行为者为对照。采用聚合酶链反应(polymerase chain reaction,PCR)和PCR产物直接测序法,分析TPH2基因rs7305115单核苷酸多态性。结果在TPH2基因rs7305115附近312bp的范围内未发现其他的单核苷酸多态性。抑郁症自杀未遂组与无自杀行为组之间的rs7305115单核苷酸多态性的基因型和等位基因频率差异均有显著性(2=8.018,P=0.018;2=6.090,P=0.014),前者基因型AA与等位基因A低于后者。结论TPH2基因rs7305115单核苷酸多态性与抑郁症自杀未遂存在关联,其可能与抑郁症患者的自杀易感性相关。     

GNB3基因C825T多态性与缺血性脑卒中的关系

目的 了解G蛋白β亚基（GNB3）基因C825T多态性与北京地区缺血性脑卒中发病之间的关系。方法 利用PCR和分子杂交技术对北京地区294例缺血性脑卒中患者及280例非脑卒中患者的C825T多态性进行检测和分析。结果 C825T多态性位点在两组人群中的分布均符合Hardy-weinberg遗传平衡定律,缺血性脑卒中患者中CC、CT、TT三种基因型频率分布依次为30.27%、49.98%、20.75％,非脑卒中患者中为33.21%、47.50、19.29％,两组人群中825T等位基因频率分别为0.452和0.430,均无显著性差异。结论 GNB3基因C825T多态性与北京地区缺血性脑卒中发病无关。     

生物钟核心基因多态性与缺血性脑卒中疾病的关联性

目的 探索生物钟分子发条中核心时钟基因单核苷酸多态性ARNTL rs6486122、PER1 rs2253820与缺血性卒中发病的关联性。方法 采用SNaPshot法检测候选SNPs基因型。不同的基因型被当作分类变量,疾病组与对照组间基因型及遗传模型的比较采用Logistic回归分析,并校正年龄、性别、血脂异常、既往病史等相关危险因素,分别计算不同基因型及遗传模型的调整OR值和95%CI。结果 多因素Logistic回归分析显示,随着受试者年龄的增长脑卒中的患病风险显著增加（P<0.001,OR=6.704,95%CI 5.188～8.644）;高血压患者较非高血压患者的患缺血性脑卒中风险增加2.565倍（P<0.001,OR=2.565,95%CI 1.971～3.338）;血脂异常患者较血脂正常人群患缺血性脑卒中的风险增加1.700倍（P=0.001,OR=1.700,95%CI 1.230～2.348）;收缩压及舒张压增高,同样也会增加卒中的患病风险。对于PER1基因rs2253820位点,以野生纯合子TT基因型为参比,CT基因型,CC基因型以及显性遗传模型在增加脑卒...     

河南汉族人群eNOS基因VNTR多态性与缺血性脑血管病的关系

目的 探讨河南汉族人群内皮细胞性一氧化氮合酶(eNOS)基因内含子4可变性重复序列(VN-TR)的多态性与缺血性脑血管病(ICVD)的关系.方法 应用聚合酶链反应(PCR)技术,检测488例缺血性脑血管病患者的基因型,并与对照组比较.结果 缺血性脑血管病组eNOS基因ab基因型的频率(18.4%)明显高于对照组(13.57%),a等位基因的频率(11.5%)也明显高于对照组(7.7%),差异均有显著性(P＜0.05).结论 eNOS基因ab基因型与缺血性脑血管病有相关性,等位基因a可能是缺血性脑血管病的危险因素.     

NINJ2 polymorphism is associated with ischemic stroke in Chinese Han population

Recently, a genome-wide association study reported an association between two single nucleotide polymorphisms (SNPs) rs11833579 and rs12425791 near NINJ2 gene and ischemic stroke in Caucasians. Therefore, NINJ2 gene is an important candidate locus in the prevalence of ischemic stroke. We performed a hospital based genetic association study in Chinese Han subjects to investigate the relationship between NINJ2 gene and ischemic stroke. We genotyped 14 tagging single nucleotide polymorphisms (tSNP) in 749 ischemic stroke subjects and 924 control subjects and conducted the association between these tSNPs and ischemic stroke. We detected a tSNP rs10849373 in the first intron of the NINJ2 gene significantly associated with ischemic stroke (both genotype and allelic p=0.0001). The minor A allele increased the risk of ischemic stroke with a per-allele OR of 1.37 for the additive genetic model in univariate analysis (p=0.0001). The significance remained after adjustment for the covariates of age, gender, BMI, cigarette smoking, alcohol drinking, hypertension, and diabetes. Therefore, we report a new genetic variant, rs10849373, located in the first intron of the NINJ2 gene, conferring risk of ischemic stroke in Chinese Han subjects. Further genetic association and functional studies are required to search the causal functional variant in linkage disequilibrium with this polymorphism.     

沈阳地区汉族人群脑梗死患者ALOX5AP基因SNP分析

目的研究沈阳地区汉族人群5-脂氧合酶激活蛋白基因(ALOX5AP基因)单核苷酸多态(singlenucleotide polymorphism,SNP)与脑梗死易患的相关性。方法收集2008年度沈阳地区常住汉族人群380例脑梗死患者,以及同期随机抽取的425例门诊体检正常对照者,通过多重PCR(Multiplex PCR)获得含有待检测突变位点的基因片断,然后进行多重酶检测反应(Multiplex LDR),最后通过测序仪电泳读取检测结果。并且进行血脂、血糖等的生化指标检查。多元logic回归分析方法校正传统危险因素后分析基因多态性和脑梗死之间的相关独立性。结果共检测7个基因位点的多态变化,在SG13S114,以及SG13S32位点脑梗死组和对照组有显著差异(OR=1.8,P0.01;OR=1.4,P0.01)。其它位点SG13S25、SG13S89、G13S32、SG13S35、SG13S41两组之间无差异,单倍体HapA在两组之间也无显著差异。回归分析显示高血压和SG13S114、SG13S32是沈阳地区汉族人群的独立危险因素。结论 ALOX5AP基因的SG13S114、SG13S32和脑梗死相关,是脑梗死的独立危险因素之一。     

NINJ2基因多态性及相关血清因子与卒中的相关性研究

目的 研究中国汉族人群中NINJ2基因多态性与卒中的相关性以及肿瘤坏死因子-α(TNF-α)、神经生长因子(NGF)、白细胞介素-6(IL-6)、P-选择素(P-Selectin)在恢复期患者和正常人群中含量的差别. 方法 选择大动脉粥样硬化性(LAA)脑梗死患者52例、小动脉闭塞性(SAO)脑梗死患者85例、脑出血(ICH)患者50例及正常对照者66例,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测NINJ2基因两个SNP位点(rs12425791、rs11833579)的基因型,比较各组间的基因型及等位基因分布频率是否存在差异.采用多类结果变量的logistic回归分析法计算各患者组基因型的OR值,并给出95%CI.采用ELISA法检测TNF-α、NGF、IL-6及P-Selectin4种血清因子的含量,并比较组间及组内不同基因型间血清因子含量的差别. 结果 (1)对于rs12425791位点,LAA组及SAO组AG型频率及AA+AG型频率明显高于对照组,比较差异有统计学意义(P＜0.05),但ICH组与对照组比较差异无统计学意义(P＞0.05);SAO组A等位基因频率明显高于对照组,比较差异有统计学意义(P＜0.05),但LAA组及ICH组与对照组比较差异无统计学意义(P＞0.05).对于rs11833579位点,各患者组的基因型及等位基因分布频率与对照组相比差异无统计学意义(P＞0.05).(2)多类结果变量的logistic回归分析显示,在校正了其他危险因素的影响后,对于rsl2425791位点,LAA组AG型和SAO组AG型、AA+AG型仍与卒中发病呈相关关系(其OR值分别为4.298、3.923及2.937,相应的95%C1分别为1.430～12.922、1.417～10.860及1.119～7.710);而对于rs11833579位点,各患者组基因型与卒中发病无相关关系.(3)各患者组血清IL-6、TNF-α、NGF及P-Selectin含量与对照组相比差异无统计学意义(P＞0.05).对于rs12425791位点,LAA组不同基因型间TNF-α含量差异有统计学意义(P＜0.05),ICH组不同基因型间P-Selectin含量差异有统计学意义(P＜0.05);对于rs11833579位点,LAA组不同基因型间NGF含量差异有统计学意义(P＜0.05). 结论 中国汉族人群中NINJ2基因SNP位点rs12425791与卒中发病显著相关,其A等位基因增加罹患该病的风险,SNP位点rs11833579与卒中发病没有显著关系.恢复期患者4种血清因子的含量与正常对照者相比没有明显差别.

Abstract：

Objective To investigate the relationship between NINJ2 gene polymorphism and stroke, and the differences of serum levels of tumor necrosis factor-αt (TNF-α), NGF, interleukin-6 (IL-6)and P-Selectin in healthy controls and patients under recovery stage. Methods Fifty-two patients with large-artery atherosclerosis (LAA) infarction, 85 patients with small-artery occlusion lacunar (SAO)infarction, 50 patients with intracerebral hemorrhage (ICH) and 66 healthy controls were included in this study. Genotypes of the 2 single nucleotide polymorphism (SNP) sites (rs12425791 and rs11833579) in NINJ2 gene were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RLFP) method. The differences of genotypes and alleles frequencies of the 2 SNP sites between each 2 different groups were analyzed and compared. Multinomial logistic regression was used to calculate the odds ratio (OR) of genotypes in each patient group, and 95% confidential interval (95% CI)was given. The serum levels ofTNF-α, NGF, IL-6 and P-Selectin were tested by ELISA method, and compared between groups and within group classified by genotypes. Results In regard to rs12425791 site, the frequencies of AG and AA+AG genotypes in LAA and SAO groups were significantly higher than those in control group (P＜0.05), while this difference was not found between the ICH group and control group (P＞0.05); the frequency of A allele in the SAO group was significantly higher than that in the control group (P＜0.05), while this difference was not found between the control group and both the LAA and ICH groups (P＞0.05). In regard to rs11833579 site, no significant differences in the genotypes and alleles were noted between all the patient groups and control group (P＞0.05). After adjusting the influence of other risk factors, the multinomial logistic regression analysis showed that the onset of stroke was still significantly associated with the AG genotype at rs12425791 site in the LAA group (OR=4.298,95%CI=1.430-12.922) and AG, AG+AA genotypes at rs12425791 site in the SAO group (OR=3.923 and 2.937, 95%CI= 1.417- 10.860 and 1.119-7.710). Neither genotypes in rs 11833579 site were significantly associated with the onset of stroke. No significant differences of serum levels of TNF-α, NGF, IL-6 and P-Selectin were noted between each patient group under recovery stage and control group (P＞0.05); in regard to rs12425791 site, the serum level of TNF in LAA group with different genotypes was significantly different (P＜0.05) and the serum level of P-Selectin in ICH group with different genotypes was significantly different (P＜0.05); in regard to rs11833579 site, the serum level of NGF in LAA group with different genotypes was statistically different (P＜0.05). Conclusion This SNP site (rs12425791)is significantly associated with ischemia stroke and the A allele increases the risk of being susceptible to this disease in Chinese Han population. That SNP site (rs1 1833579) is not significantly associated with stroke. No significant differences of TNF-α, NGF, IL-6, P-Selectin serum levels are noted between patients under recovery stage and controls.     

ALOX5AP基因启动子区单核苷酸多态性与中国北方汉族人群缺血性卒中的关系

目的探讨ALOX5AP基因启动子区单核苷酸多态性与中国北方汉族人群缺血性脑血管病的相关关系。方法本研究共人选北方汉族脑梗死患者220例，同期年龄与性别匹配的对照组191名。采用聚合酶链反应目的基因扩增和基因直接测序的方法鉴别基因型和单核苷酸多态性分析。病例组和对照组基因型分布差异采用关联分析的方法进行检测。经多元Logistic回归方法校正经典血管病危险因素后，分析基因多态性与缺血性卒中的相关关系。结果发现3个ALOX5AP启动子区未报道的单核苷酸多态性位点，由这3个位点组成的单体型与缺血性脑血管病的发生明确相关，其中Hap Ⅰ是一种保护性单体型，可以减少缺血性脑血管病发生（OR 0．54，95％CI 0．408～0．715）；而HapⅡ（OR 2．91，95％CI 1．351～6．239）和Hap Ⅲ （OR 18．82，95％CI 2．562～138．38）则作为一种危险因素，增加缺血性脑血管病发生的风险。另外，-499和-290位点单核苷酸多态性与全脑动脉粥样硬化密切相关。结论与炎症介质白三烯代谢密切相关的ALOX5AP基因启动子区单核苷酸多态性与中国北方汉族人群脑梗死的发生有密切关系。     

The rs11833579 and rs12425791 polymorphisms and risk of ischemic stroke in an Asian population: A meta-analysis

Background

In 2009, a GWAS has confirmed that rs11833579 and rs12425791 near the NINJ2 gene could increase the stroke and ischemic stroke (IS) risk. Recently, several studies have been implemented to assess the relationship between the two SNPs and ischemic stroke risk in Asian. However, the results were poorly consistent. To study the association between the both polymorphisms and the risk of ischemic stroke, we performed a meta-analysis.

Methods

We used odds ratios (ORs) with 95% confidence intervals (CIs) to evaluate the strength of association. The heterogeneity was checked by Q test and the inconsistency index (I²). Begg's test and Egger's test were used to assess the possible publication bias.

Results

Our study included 6 articles, contained 9 independent case-control studies, involved a total of 9,142 cases and 10,652 controls about rs11833579, 10,165 cases and 11,592 controls about rs12425791. There was a significant association between rs12425791 and IS risk with dominant genetic model (OR = 1.087, 95%CI = 1.021-1.158, I² = 34.6%, P = 0.152), but not with recessive genetic model and allele A vs. allele G. For rs11833579, we failed to verify it relate with IS risk under allele A vs. allele G, dominant and recessive genetic model.

Conclusions

This meta-analysis suggest that rs12425791 is relative to ischemic stroke risk under dominant model in Asian population, but not for rs11833579.     

C-反应蛋白rs1130864位点与缺血性卒中的相关性研究

目的 分析缺血性脑卒中(IS)发生的危险因素,探讨C-反应蛋白(CRP)基因中rs1130864位点与IS的相关性. 方法 选取滨州医学院附属医院神经内科自2010年12月至2011年12月收治的128例IS患者作为病例组,同期无动脉粥样硬化血管病史的门诊体检者112例作为对照组,采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)检测2组受试者rs1130864位点的基因型;Logistic多元回归分析方法分析IS的危险因素. 结果 病例组中男性患者比例、高血压病史、糖尿病史、高血脂病史、吸烟史、饮酒史和家族脑卒中史的发生率均明显高于对照组,差异有统计学意义(P＜0.05);2组rs1130864位点基因型、等位基因频率及显性模型比较差异无统计学意义(P＞0.05),但隐性模型比较差异有统计学意义(P＜0.05); Logistic回归分析显示男性、高血压病史、糖尿病史、吸烟史及rs1130864的隐性模型(TT+CT)是IS发生的独立危险因素. 结论 男性、高血压病史、糖尿病史、吸烟史及rsl 130864的隐性模型(TT+CT)是IS发生的独立危险因素.     

环指蛋白213基因单核苷酸多态性与中国汉族缺血性卒中相关性研究

目的探讨环指蛋白213(RNF213)基因P.R4810K(G>A)单核苷酸多态性与中国汉族缺血性卒中的关系。方法纳入2013年6月~2013年12月入住郑州大学第一附属医院神经内科汉族缺血性脑卒中患者,所有患者均行血管影像学检查,包括磁共振血管成像(MRA)或者CT血管成像(CTA),分为颅内大动脉狭窄或闭塞亚组(intracranial major artery stenosis/occlusion,ICASO)及无颅内大动脉狭窄或闭塞亚组(non-ICASO),同时选取性别、年龄与缺血性脑卒中组相匹配的健康汉族人为对照组。通过聚合酶链式反应及直接测序方法行多态性位点分析。结果共纳入285例中国汉族缺血性脑卒中患者,其中139例(48.8%)存在不同程度颅内动脉狭窄或者闭塞,146例(51.2%)无颅内大动脉狭窄或闭塞。RNF213基因P.R4810K多态性在缺血性卒中组、ICASO亚组、非ICASO亚组、正常对照组的发生率分别为0.35%(1/285)、0.72%(1/139)、0(0/146)、0.33%(1/300)。和对照组相比,RNF213基因P.R4810K多态性与缺血性卒中组差异无统计学意义(P=1,odds ratio[OR]1.053,95%confidence interval[CI]0.066~16.912),与合并颅内大动脉狭窄或者闭塞亚组间差异同样无统计学意义(P=0.533,OR 2.167,95%CI 0.135~34.894)。结论 RNF213基因P.R4810K单核苷酸多态性与中国汉族缺血性脑卒中及存在ICASO的缺血性脑卒中患者的易患性无相关性,但需在较大样本中进一步验证。     

Association of CHUK gene polymorphism and ischemic stroke in the Han Chinese population

BackgroundRecently, the pivotal role of component of inhibitor of nuclear factor kappa B kinase complex (CHUK) in lipid levels and blood pressure has been reported, and hypertension and hyperlipidemia are common risk factors of ischemic stroke (IS). However, the association between CHUK and IS has not yet been explored. This study aims at evaluating the relationship of CHUK polymorphisms (rs3808916, rs2230804 and rs3808917) and IS risk as well as IS-related risk factors. Methods: CHUK mRNA expression was detected between 53 IS patients and 53 healthy controls using quantitative real-time polymerase chain reaction (qRT-PCR). A total of 816 IS patients and 816 age- and sex-matched healthy controls were genotyped using the Sequenom MassARRAY iPLEX platform. Results: CHUK mRNA was highly expressed in IS patients compared with healthy subjects (P＜0.001). No significant associations were observed between rs3808916, rs2230804, rs3808917 and IS susceptibility (P＞0.05). Moreover, haplotype analysis showed that no haplotype of CHUK polymorphisms was associated with IS (P > 0.05). However, rs2230804 was related to diastolic blood pressure (DBP) of IS patients (P = 0.035), while rs3808917 was associated with triglyceride (TG) levels (P = 0.046). Conclusions: The CHUK expression is involved in the development of IS. CHUK variants rs2230804, and rs3808917 may affect blood pressure and lipid levels of IS patients. However, CHUK rs3808916, rs2230804 and rs3808917 polymorphisms are not associated with IS risk.     

SORLl基因rs2070045单核苷酸多态性与遗忘型轻度认知功能障碍的关联分析

目的分析北京地区汉族人群分拣蛋白相关受体1（sortilin-relatedreceptorl,SORL1,又称sorl1或LR11）rs2070045单核苷酸多态性与遗忘型轻度认知功能障碍（amnesticmildcognitiveimpairment,aMCI）是否存在关联。方法采用病例对照的关联分析方法,提取139例aMCI（病例组）和213例非认知障碍健康人（对照组）外周血中基因组DNA,应用聚合酶链反应-高分辨溶解曲线（PCR-HRM）技术结合测序验证法检测SORLl基因rs2070045位点单核苷酸多态性的分布情况,分析SORL1基因多态性与aMCI的相关性。结果aMCI组中GG,GT,TT基因型分别为54例（38．8）,65例（46．8）,20例（14．4）;对照组中GG,GT,TT基因型分别为59例（27．7）,103例（48．4）,51例（23．9）。aMCI组与对照组SORL1基因rs2070045单核苷酸多态性的基因型及等位基因频率分布差异明显（X2=7．109,P=0．029;X2=7．315,P=0．007）,男性aMCI组与对照组基因型及等位基因频率分布差异不明显（X2=3．068,P=0．216;X2=2．357,P=0．125）,女性aMCI组与对照组基因型频率分布差异也不明显（X2=4．229,P=0．121）,等位基因频率分布差异明显（x。=4：438,P=0．035）。结论SORL1基因rs2070045位点单核苷酸多态性与北京地区汉族人群aMCI的发生明显相关,G等位基因为危险等位基因。