NOTCH3基因rs1043996位点多态性与小动脉闭塞型卒中的相关性

目的探讨NOTCH3基因外显子区rs1043996单核苷酸多态性与中国徐州地区小动脉闭塞型卒中(SAO)的关系。方法采用病例-对照研究的方法,选取372例SAO患者作为病例组,其中首发性SAO207例,复发性SAO 165例;另选206例健康体检者作为对照组,采用聚合酶链反应和限制性片段长度多态性方法,检测两组NOTCH3基因rs1043996位点单核苷酸多态性。结果两组均以CT基因型为主,SAO组TT基因型(28.5%对20.4%,χ2=4.574,P=0.032)和TT+CT基因型(80.6%对67.0%,χ2=13.468,P=0.000)以及T等位基因(54.6%对43.7%,χ2=9.337,P=0.002)频率均显著高于对照组。首发性SAO组、复发性SAO组和对照组之间基因型分布频率(χ2=15.041,P=0.005)及T等位基因分布频率(χ2=12.392,P=0.002)存在显著差异,其中首发性SAO组TT+CT频率(82.1%对67.0%,χ2=12.475,P=0.000)和T等位基因频率(55.8%对43.7%,χ2=12.109,P=0.001)及复发性SAO组TT+CT频率(78.8%对67.0%,χ2=6.358,P=0.012)和T等位基因频率(51.5%对43.7%,χ2=4.526,P=0.033)均显著高于对照组。复发性SAO组TT+CT基因型频率(χ2=0.655,P=0.418)和T等位基因频率(χ2=1.406,P=0.236)与首发性SAO组无显著差异。多变量Logistic回归分析显示,T等位基因是SAO的独立危险因素(优势比1.545,95%可信区间1.046~2.282;P=0.029),但与SAO复发风险无关。结论 NOTCH3基因外显子区rs1043996位点T等位基因可能与中国徐州地区人群SAO风险增高有关,但与该地区SAO复发无关。     

广西汉族人群NINJ2基因单核苷酸多态性位点rs12425791与缺血性脑卒中的关系

目的 探讨广西汉族人群NINJ2基因单核苷酸多态性(SNP)位点rs12425791与缺血性脑卒中(IS)的关系.方法 采用TaqMan MGB探针等位基因分型技术,对166例IS患者(IS组)和192名健康对照者(正常对照组)NINJ2基因SNP位点rs12425791进行基因分型,对两组基因型和等位基因频率进行比较.结果 IS组NINJ2基因SNP位点rs12425791基因型分布[G/G型103例(62.05％),G/A型54例(32.53％),A/A型9例(5.42％)]与正常对照组[G/G型112例(58.33％)、G/A型65例(33.85％)、A/A型15例(7.81％)]比较差异无统计学意义(x2=1.011,P=0.603).IS组NINJ2基因SNP位点rs12425791等位基因频率(G等位基因78.31％,A等位基因21.69％)与正常对照组(G等位基因75.26％,A等位基因24.74％)比较差异亦无统计学意义(x2=0.928,P=0.335).结论 广西汉族人群NINJ2基因SNP位点rs12425791可能与IS的发病无关.     

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。     

小动脉闭塞引起的缺血性脑卒中与深部脑出血的风险因素比较

目的 探讨小动脉闭塞(SAO)引起的缺血性脑卒中(IS)与深部脑出血的风险因素。方法 选取本院2017年12月-2019年12月收治的SAO型IS患者86例和深部脑出血患者55例,比较2组患者一般资料、实验室指标水平,Logistic回归分析影响SAO型IS与深部脑出血的危险因素。结果 SAO型IS组年龄、高血压病史、糖尿病史、肥胖的比例显著高于深部脑出血组(P<0.05); 2组性别、饮酒史、吸烟史、心脏病史的比例比较均无明显差异(P>0.05)。SAO型IS患者与深部脑出血患者血糖(GLU)、血尿酸(SUA)、高密度脂蛋白胆固醇(HDL-C)、α脂蛋白(LPα)、C反应蛋白(CRP)、同型半胱氨酸(HCY)水平比较均有明显差异(P<0.05); 2组总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白A1(apoA1)、凝血酶原时间(PT)、凝血酶时间(TT)、活化部分凝血活酶时间(APTT)、纤维蛋白原(FIB)、血小板计数(PLT)水平比较均无明显差异(P>0.05)。Logistic回归分析显示,相对于脑出血,年龄>65岁、肥胖、糖尿病史、高HDL-C、GLU、SUA、LPα水平为与SAO型IS相关的因素,相对于SAO型IS,高血压病史、高CRP、HCY水平为与深部脑出血相关的因素。结论 小动脉闭塞引起的缺血性脑卒中与深部脑出血的风险因素不同,年龄>65岁、肥胖、糖尿病史及高HDL-C水平与小动脉闭塞引起的缺血性脑卒中相关,而高血压病史、高炎症水平与深部脑出血相关。     

上海地区汉族人群LMTK2与MSMB基因多态性与前列腺癌的易感性

目的：探讨中国上海地区汉族人群中LMTK2与MSMB基因多态性与前列腺癌遗传易感性的关系。 方法：采用病例对照研究,提取200例前列腺癌患者(病例组)和200例非前列腺癌健康人(对照组)外周血中基因组DNA,应用ABI 3730 XL测序仪分析病例组和对照组的LMTK2基因rs6465657位点以及MSMB基因rs10993994位点的多态性,比较不同基因型与前列腺癌易感性的关系。 结果：MSMB基因rs10993994位点密码子T/C基因型的个体其前列腺癌发病风险是C/C基因型的1.62倍(OR =1.62, 95% 可信区间：1.12~2.27),携带MSMB基因rs10993994位点等位基因T(T/T,T/C)的个体发生前列腺癌的风险性是C/C基因型的0.96倍(OR =0.96, 95% 可信区间：0.82~1.11)。LMTK2基因rs6465657位点密码子C/C基因型的个体其前列腺癌发病风险与T/C基因型无明显差异。 结论：中国上海地区汉族人群中MSMB基因rs10993994位点多态性可能对前列腺癌遗传易感性有影响,而LMTK2基因rs6465657位点对前列腺癌遗传易感性无明显影响。     

白细胞介素23受体基因单核苷酸多态性与中国南方汉族人群多发性硬化的相关性

目的 探讨白细胞介素23受体(IL23R)基因单核苷酸多态性(SNPs)与中国南方汉族人群多发性硬化(MS)的相关性.方法 选取IL23R基因3个SNPs位点(rs2201841、rs10889677、rs7517847),采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测178例MS患者和221名健康对照者IL23R基因的多态性,分析其与MS的相关性,并采用SHEsis软件进行连锁不平衡和单倍型分析.结果 IL23R基因rs2201841[TT、TC、CC 3种基因型在病例组为5.7％(10/175)、45.7％(80/175)、48.6％(85/175),在对照组为7.4％ (16/217)、41.0％ (89/217)、51.6％ (112/217);x2=1.08,P=0.58]、rs10889677[AA、AC、CC 3种基因型在病例组为52.0％(89/171)、42.7％(73/171)、5.3％(9/171),在对照组为57.7％(123/213)、36.2％(77/213)、6.1％(13/213);x2=1.71,P=0.43]、rs7517847位点[GG、GT、TT3种基因型在病例组为16.9％(29/172)、51.7％(89/172)、31.4％(54/172),在对照组为14.4％(31/215)、49.3％(106/215)、36.3％ (78/215);x2=1.15,P=0.56]各基因型与等位基因频率分布在两组之间差异均无统计学意义;MS患者SNPs位点各基因型之间首次发病年龄、病程及扩展残疾状态评分比较差异均无统计学意义.IL23R基因rs2201841和rs10889677位点存在连锁不平衡关系(D’=0.614,r2=0.327),进一步分析发现各单倍体频率分布在病例组和对照组之间差异均无统计学意义.结论 在中国南方汉族人群中,IL23R基因3个单核苷酸位点(rs2201841、rs10889677、rs7517847)多态性与MS之间无相关性.     

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.     

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。     

NLRP3基因多态性与中国北方东部汉族人群帕金森病相关性研究

目的探讨Nod样受体家族蛋白3 (Nod-like receptor protein 3,NLRP3)rs4612666及rs7525979位点多态性与中国北方东部汉族人群帕金森病(Parkinson disease,PD)发病风险的相关性。方法采用病例对照研究,共招募400例PD患者(PD组)及400例健康对照者(对照组),应用聚合酶链反应-限制性片段长度多态性方法鉴定NLRP3基因SNPs位点rs4612666和rs7525979。结果 PD组rs4612666等位基因与对照组具有统计学差异,C等位基因频率低于对照组,降低发病风险(OR=0.794,95%CI:0.653～0.967,P=0.021),隐性遗传模型CC/TT+CT分布在PD组与对照组之间差异具有统计学意义(OR=0.667,95%CI:0.481～0.925,P=0.015)。亚组分析中,与对照组比较,女性PD组与早发型PD组等位基因分布差异具有统计学意义(P=0.003,P=0.018)。rs7525979位点的基因型分布和等位基因频率在PD组与对照组比较均无统计学差异(P>0.05)。结论在中国北方东部汉...     

DISC1基因多态性与中国上海汉族人群阿尔茨海默病的关联研究

目的：探讨精神分裂症断裂基因(DISC1)rs821633,rs1000731单核苷酸多态性(SNP)与阿尔茨海默病(AD)的关系.方法提取中国上海汉族441例 AD 患者和749名健康对照组的 DNA,采用 Taqman 探针 SNP 基因分型技术测定 DISC1基因 SNP rs821633和 rs1000731位点的等位基因及基因型,检测两组受试者等位基因及基因型的频率分布差异.结果两组受试者中 rs821633不符合Hardy－Weinberg 平衡定律给予舍弃,rs1000731符合 Hardy－ Weinberg 平衡定律纳入,rs1000731位点的等位基因及基因型在两组受试者中分布比较,差异无统计学意义(P ＞0．05).结论 DISC1基因SNP rs1000731与 AD 无明显关联.     

血浆粘度与小动脉闭塞型脑梗死的相关性究

目的研究血浆粘度(PV)与急性脑梗死及不同卒中亚型之间的关系。方法收集2013年8月至2014年8月在河北省人民医院院神经内科被诊断为急性脑梗死的住院患者,入选120例,分为大动脉粥样硬化组(n=44)、小动脉闭塞组(n=40)、心源性脑栓塞组(n=36),以血浆粘度作为研究变量。结果分析发现急性脑梗死患者血浆粘度[1.36(1.35~1.38)]和无缺血性卒中患者的血浆粘度[1.32(1.27~1.34)]相比显著增高(P0.05)。小动脉闭塞型卒中患者的血浆粘度[1.42(1.39~1.45)]和大动脉粥样硬化组[1.33(1.31~1.35)]以及心源性脑栓塞组[1.35(1.33~1.37)]相比显著增高(P0.05)。而且血浆粘度的增高与小动脉闭塞型脑梗死的发生密切相关(OR=6.33)。结论急性缺血性卒中患者血浆粘度明显增高且血浆粘度增高与小动脉闭塞型脑梗死密切相关,可能在小动脉闭塞型脑梗死发生和发展中发挥重要作用。     

神经元型一氧化氮合酶基因多态性与脑梗死的相关性

目的探讨神经元型一氧化氮合酶(NOS1)基因多态性与脑梗死发病的关系。方法以rs9658281和rs2682820位点为遗传标记,采用聚合酶链式反应(PCR)和限制性片断长度多态性(RFLP)技术检测605例脑梗死患者和313例对照组人群的基因型。结果Rs9658281位点G等位基因频率较对照组明显增高(χ2=3.906,P=0.048,OR=1.362,95%CI1.003～1.850),这种差异在女性明显(χ2=6.689,P=0.010,OR=1.913,95%CI1.170～3.167)。Rs9658281位点的GG基因型频率较对照组明显增高(χ2=5.322,P=0.021,OR=1.473,95%CI1.060～2.047),这种差异在女性明显(χ2=9.299,P=0.002,OR=2.315,95%CI1.349～3.972)。经过多因素回归分析调整了传统危险因素的影响后,两组间仍有显著性差异(P=0.023)。Rs2682820位点的基因型频率和等位基因频率在脑梗死组和对照组的分布无显著差异(P>0.05)。结论神经元型一氧化氮合酶(NOS1)基因rs9658281位点多态性与脑梗死的发病可...     

Association of E-selectin gene polymorphisms with ischemic stroke in a Chinese Han population

The E-selectin gene, a member of the selectin superfamily of adhesion molecules, plays an important role in the pathogenesis of thrombovascular diseases. The present study was designed to investigate the potential relationship between E-selectin gene polymorphisms and ischemic stroke in a Chinese Han population. Three hundred fourteen ischemic stroke patients and 389 unrelated healthy controls were recruited for the study. Three single-nucleotide polymorphisms (SNPs)-rs1805193(G98T), rs5361(A561C), and rs5355(C1839T)-in the exon region of the E-selectin gene, were genotyped using a Multiplex SNaPshot sequencing assay. The data showed that the genotype and allele frequencies of G98T and C1839T SNP were similar in both ischemic stroke patients and the controls. In contrast, the frequency of both the AC genotype and the C allele of A561C was significantly higher in ischemic stroke patients than in healthy controls (P = 0.001, P < 0.001, respectively). After adjusting for other risk factors (such as hypertension, diabetes, tobacco smoking, and alcohol consumption), the E-selectin gene AC genotype and C allele of A561C were still associated with a risk of ischemic stroke (odds ratio [OR] = 2.73, 95% confidence interval (CI): 1.29-5.76, P = 0.008; OR = 2.80, 95% CI: 1.58-4.94, P < 0.001, respectively). Our current study demonstrates that the E-selectin SNP A561C is associated with increased risk for the development of ischemic stroke in this subset of the Han Chinese population.     

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.     

Intravenous thrombolysis in patients with stroke attributable to small artery occlusion

Background: Intravenous thrombolysis (IVT) for stroke seems to be beneficial independent of the underlying etiology. Recent observations raised concern that IVT might cause harm in patients with strokes attributable to small artery occlusion (SAO). Objective: The safety of IVT in SAO‐patients is addressed in this study. Methods:  We used the Swiss IVT databank to compare outcome and complications of IVT‐treated SAO‐patients with IVT‐treated patients with other etiologies (non‐SAO‐patients). Main outcome and complication measures were independence (modified Rankin scale ≤2) at 3 months, intracranial hemorrhage (ICH), and recurrent ischaemic stroke. Results: Sixty‐five (6.2%) of 1048 IVT‐treated patients had SAO. Amongst SAO‐patients, 1.5% (1/65) patients died, compared to 11.2% (110/983) in the non‐SAO‐group (P = 0.014). SAO‐patients reached independence more often than non‐SAO‐patients (75.4% versus 58.9%; OR 2.14 (95% CI 1.20–3.81; P = 0.001). This association became insignificant after adjustment for age, gender, and stroke severity (OR 1.41 95% CI 0.713–2.788; P = 0.32). Glucose level and (to some degree) stroke severity but not age predicted 3‐month‐independence in IVT‐treated SAO‐patients. ICHs (all/symptomatic) were similar in SAO‐ (12.3%/4.6%) and non‐SAO‐patients (13.4%/5.3%; P > 0.8). Fatal ICH occurred in 3.3% of the non‐SAO‐patients but none amongst SAO‐patients. Ischaemic stroke within 3 months after IVT reoccurred in 1.5% of SAO‐patients and in 2.3% of non‐SAO‐patients (P = 0.68). Conclusion: IVT‐treated SAO‐patients died less often and reached independence more often than IVT‐treated non‐SAO‐patients. However, the variable ‘SAO’ was a dependent rather than an independent outcome predictor. The absence of an excess in ICH indicates that IVT seems not to be harmful in SAO‐patients.     

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。     

基质金属蛋白酶-9基因多态性与缺血性脑卒中的相关性

目的探讨基质金属蛋白酶-9(matrix metalloproteinases-9,MMP-9)基因多态性与缺血性脑卒中的相关性。方法运用多重小测序技术(multiplex SNa Pshot)分析粤西地区251例缺血性脑卒中患者和96例健康对照组MMP-9基因(rs3787268、rs3918241、rs3918242)的多态性分布,并分析与缺血性脑卒中的相关性。结果 (1)与对照组相比,病例组rs3787268基因型频率有统计学差异(P=0.042),在隐性模型中A/A基因型的个体患病风险升高(OR=2.21,P=0.046);(2)rs3918242基因型频率亦有统计学差异(P=0.007),在显性模型中,携带T基因型的个体患病风险升高(OR=2.14,P=0.009);(3)其中rs3787268在大动脉粥样硬化(large artery atherosclerosis,LAA)亚型组的基因型分布与对照组相比有统计学差异(P=0.039),而非LAA亚型中无统计学差异;rs3918242在LAA亚型组的基因型和等位基因频率与对照组相比分别有统计学差异(P=0.009,P=0.047),在非LAA亚型中无统计学差异。结论 MMP-9基因rs3787268和rs3918242多态位点突变可能与中国粤西地区汉族人群缺血性脑卒中的发病风险相关;并主要可能增加了LAA型脑卒中的发病风险。     

对氧磷酶1基因多态性与缺血性脑卒中的关联研究

目的探讨对氧磷酶1(PON1)基因的rs2299262标签位点(tag SNP)多态性与缺血性脑卒中的相关性。方法本研究共纳入705例缺血性脑卒中患者和406例对照组人群,按TOAST分型标准,分为动脉粥样硬化性脑梗死406例、腔隙性脑梗死299例。以位于PON1基因的rs2299262位点为遗传标记,采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术检测PON1基因的多态性。结果缺血性脑卒中组、动脉粥样硬化性脑梗死组、腔隙性脑梗死组和对照组的PON1基因型及等位基因频率与对照组的差异无统计学意义(P>0.05)。经性别分层后也未见显著差异。结论PON1基因与缺血性脑卒中的发病可能无关。     

C反应蛋白基因多态性与缺血性脑卒中的关系

目的探讨超敏C反应蛋白(hs-CRP)水平及rs1130864基因多态性与脑梗死(CI)的相关性。方法采用病例对照研究,对105例脑梗死患者和121例健康对照者进行研究。采用免疫透射比浊法测定hs-CRP,用多聚酶链式反应(PCR)和限制性片段长度多态性测定rs1130864基因多态性。患者入院后立即用美国国立卫生院神经功能缺损评分(National Institutes of Health Stroke Scale,NIHSS)对其进行神经功能测评。结果脑梗死组与对照组rs1130864基因型频率分布统计学无显著性差异(P>0.05)。rs1130864与脑梗死病情无关联。脑梗死多因素回归方程的主要危险因素包括高血压史、糖尿病史、吸烟史、HDL-C,hs-CRP水平。结论 rs1130864(1444C>T)基因多态性与脑梗死无关联。     

Role of Interleukin-10 (-1082A/G) gene polymorphism with the risk of ischemic stroke: a meta-analysis

The role of anti-inflammatory Interleukin-10 (IL-10) cytokine gene polymorphism with the risk of ischemic stroke (IS) remains controversial. The aim of present meta-analysis was to investigate the association of IL-10 (-1082 A/G) gene polymorphism with the risk of IS. A literature search for candidate gene association studies published before 29 February 2016 was conducted in the PubMed, EMBASE, Google Scholar, and TRIP database. The following search terms were used: ‘Interleukin-10’ or ‘IL-10’ and ‘Ischemic stroke’ or ‘IS’ and ‘Cerebral Infarction’ or ‘CI’ and ‘genetic polymorphism’ or ‘single nucleotide polymorphisms’ or ‘SNP’. Fixed or random effects models were used to estimate the pooled odds ratios (ORs) and 95% confidence intervals (CIs). Begg’s funnel plot was used to assess the potential for publication bias. In our meta-analysis, five case-control studies involving 1209 IS cases and 1139 controls were included. Overall, there was no significant association between IL-10 (-1082 A/G) [rs1800896] and risk of IS under dominant [AA + AG vs. GG], recessive [AA vs. AG + GG], and allelic [G vs.A] models. However, based on Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, we observed significant association of IL-10 (-1082 A/G) gene polymorphism with the risk of IS for Large Vessel Disease (LVD), Small Vessel Disease (SVD), and other (others due to determined and undetermined etiology) subtypes of IS. This is the first meta-analysis to conclude that IL-10-1082A/G gene polymorphism is associated with the risk of LVD, SVD, and other subtypes of IS. Further well-designed large sample size studies based on TOAST classification are needed to validate these findings.