BST1基因多态性与中国人群帕金森病发病风险的相关性研究

目的明确BST1基因rs4698412、rs11931532位点的单核苷酸多态性(SNPs)与中国人群帕金森病(PD)发病风险的关系。方法采用病例-对照研究方法,收集江苏地区168例PD患者(PD组)及196例健康对照者(对照组),应用基质辅助激光解吸附电离飞行时间质谱技术对PD患者进行基因型测序,探讨BST1基因rs4698412、rs11931532位点的SNPs与PD发病风险的关系。结果 PD组BST1基因rs4698412位点A等位基因频率与对照组比较,差异有统计学意义(OR=1.38,95%CI:1.02~1.86,P=0.037),PD组AA+AG基因型频率与对照组比较,差异有统计学意义(OR=1.75,95%CI:1.13~2.71,P=0.011)。分层分析结果示早发型PD组AA+AG基因型分布与对照组比较,差异有显著统计学意义(OR=3.12,95%CI:1.23~7.99,P=0.013)。结论 BST1基因rs4698412位点的SNPs与中国人群PD发病有关,A等位基因可能是早发型PD的危险因素。     

中国黑龙江地区汉族人群FK506结合蛋白5基因多态性与精神分裂症的关联研究

目的:探讨中国黑龙江地区汉族人群FK506结合蛋白5(FKBP5)基因多态性与精神分裂症的关系。方法:采用SNaPshot测序法检测和分析49例汉族精神分裂症患者(患者组)和49名汉族健康对照者(对照组)的FKBP5基因rs3800373、rs1360780、rs9296158和rs9470080位点基因型和等位基因频率。结果:FKBP5 rs3800373位点基因型频率两组间差异有统计学意义(P0.05); Logistic回归分析显示,FKBP5基因rs3800373位点TT基因型携带者精神分裂症发生风险明显高于GT基因型携带者(95%CI:0.117～0.756,P=0.01)。结论:FKBP5基因rs3800373位点基因多态性可能与中国黑龙江地区汉族人群精神分裂症发病风险有关。     

XRCC1遗传变异Arg194Trp与脑膜瘤的关联研究

目的 探讨DNA修复基因XRCC1 Arg194Trp单核苷酸多态性与脑膜瘤发病风险的关联.方法 运用SNaPshot技术对205例脑膜瘤患者和218例健康对照者的XRCC1多态性Arg194Trp进行检测,比较不同基因型与脑膜瘤患病风险的关系.结果 XRCC1Arg194Trpd的基因型和等位基因频率在病例组和对照组中分布差异无统计学意义,但在＜50岁脑膜瘤组中,C等位基因个体其脑膜瘤发病风险增加( Or=1.594,95％ CI=1.027 ～2.473,P=0.037).XRCC1基因Arg194Trp多态性与脑膜瘤的病理级别和侵袭性差异无统计学意义(P＞0.05).结论 XRCC1基因Arg194Trp遗传变异与脑膜瘤发病风险无关联,但在＜50岁脑膜瘤群体中XRCC1基因C等位基因可能是一个风险因素.     

白细胞介素16基因多态性与广西地区汉族女性膝关节原发性骨性关节炎的易感关联

背景：目前的基因研究表明,膝关节原发性骨性关节炎的发病风险与白细胞介素类基因有关联性。 目的：观察白细胞介素16基因多态性与女性膝关节原发性骨性关节炎的相关性。 方法：收集71例Kellgren/Lawrence评分大于2分的膝关节原发性骨性关节炎患者及85例健康对照的广西汉族女性的静脉血标本,采用聚合酶链反应-限制性片段长度多态性技术对两组白细胞介素16的 rs11556218,rs4072111,rs4778889多态位点进行基因分型,计算两组基因型和等位基因的分布差异,分析白细胞介素16基因多态性与膝骨性关节炎的易感关联。 结果与结论：两组3个SNP位点的各基因频数在两组中的分布符合Hardy-Weinberg平衡,等位基因比较差异无显著性意义。单个位点显性模式非条件Logistic回归显示,在rs11556218的3种基因型的比较中,T/G基因型较T/T基因型的膝原发性骨性关节炎的发病风险显著减低(OR=0.41,95%CI：0.21~0.83,P=0.02);在rs4072111中,C/T基因型比C/C基因型的发病风险显著增加(OR=2.36,95%CI：1.19~4.68,P=0.03)。结果证实,广西地区汉族女性人群白细胞介素16的遗传变异与膝关节原发性骨性关节炎的易感性关联。     

梅州地区TLR4基因多态性与缺血性脑卒中发病风险的关联研究

目的检测梅州地区缺血性脑卒中患者和健康对照人群Toll样受体4(TLR4)基因的4个多态性位点rs10759932、rs11536879、rs11536891、rs1927914的基因型,分析其与缺血性脑卒中的相关性。方法收集2018年1月1日—2018年7月31日在中山大学附属梅州医院住院治疗的突发缺血性脑卒中患者186例作为病例组,同期在体检中心收集体检健康者194名作为对照组,所有观察对象均为梅州籍。应用Massarray SNP分型技术检测两组患者前述TLR4基因的4个位点基因型,绘制聚类图,并进行Hardy-Weinberg(H-W)平衡及最小等位基因频率(MAF)检测。采用二分类非条件Logistic回归模型分析上述位点不同基因型与脑梗死发病风险的相关性。以spearman秩相关方法对病例组基因型与发病年龄进行相关性分析。结果两组观察对象4种SNP位点基因聚类图均正常,H-W平衡检验P值和MAF值均大于0.05。rs1927914 A/G基因型频率分布差异有统计学意义(χ~2=9.267,P=0.010),对照组GG频率显著高于病例组。二分类logistic分析显示,rs1927914 GG基因型发生脑梗死风险的概率是AA型的37.7%(校正OR=0.377,95%CI=0.189～0.750,P=0.005);其余SNP位点基因型均未发现差异有统计学意义(均P≥0.05);相关分析结果显示rs11536891基因型与发病年龄存在负相关(r=-0.156,P=0.035)。结论 rs1927914基因位点基因型与缺血性脑卒中发生存在显著关联,rs11536891基因型与缺血性脑卒中的发病年龄存在负相关性。     

CASP8基因rs6723097和rs13113位点与脑膜瘤易感性的关联研究

目的探讨中国人群CASP8基因多态性rs6723097、rs13113与脑膜瘤易感性的关系。方法采用病例对照研究方法,收集205例脑膜瘤患者和195例健康对照,运用多重SNaPshot分型技术进行多态性检测,比较基因型和等位基因在脑膜瘤组和对照组中的分布频率。分析CASP8基因rs6723097和rs13113与脑膜瘤临床表型的关联性。结果 CASP8基因rs6723097位点基因型GG、GT、TT在脑膜瘤组分布频率为23.4%、47.3%、29.3%,在对照组中为22.6%、51.3%、26.2%;rs13113位点基因型AA、AT、TT在脑膜瘤组分布频率为22.0%、49.8%、28.3%,在对照组中为24.1%、51.3%、24.6%。未见两位点多态与脑膜瘤发病风险存在关联(P>0.05)。多态性位点间的连锁不平衡检验显示rs6723097和rs13113位点呈连锁不平衡(D’=0.901)。在脑膜瘤不同临床表型之间,rs6723097和rs13113位点基因型频率分布无明显统计学差异(P>0.05)。结论在中国人群中CASP8基因rs6723097和rs13113位点遗传变异与脑膜瘤发病风险可能无关联。     

RABEP1基因与精神分裂症患者药物治疗所致体质量变化的关联分析

目的:探讨RABEP1基因多态性与精神分裂症(schizophrenia,SZ)患者抗精神病药治疗所致体质量变化的关联。方法:调查并随访1 701例首发SZ患者使用抗精神病药治疗2~7周后的体质量变化。使用Taq Man基因分型技术检测RABEP1基因rs1058398和rs1065482位点多态性,COX比例风险模型分析RABEP1基因变异与SZ患者药物治疗所致体质量增加之间的关系。结果:使用阿立哌唑治疗的SZ患者中,rs1058398位点AG+GG基因携带者相比AA基因携带者体质量增加的风险显著升高;调整年龄、性别后,风险比(HR)为1.842(95%CI:1.066~3.184,P=0.029);使用氯氮平患者中,rs1058398位点GG基因携带者相比AA+AG基因携带者体质量增加的风险显著降低,调整后HR为0.135(95%CI:0.018~0.992,P=0.049);使用奥氮平患者中,rs1058398位点相加模型与体质量增加相关联,调整后HR为1.740(95%CI:1.031~2.936,P=0.038)。此外,使用奥氮平患者中,rs1058398位点GG基因携带者相比AA+AG基因携带者体质量增加的风险显著升高,HR为3.534(95%CI:1.406~8.883,P=0.007)。使用阿立哌唑患者中,rs1065482位点CT+TT基因携带者相比CC基因携带者体质量增加的风险显著升高,HR为1.786(95%CI:1.034~3.083,P=0.037)。结论:RABEP1基因rs1058398和rs1065482位点与抗精神病药所致体质量增加的发生风险显著关联;RABEP1基因多态性与阿立哌唑、奥氮平、氯氮平所致体质量增加有关。     

脂蛋白脂酶基因和对氧磷酶1基因联合作用与脑梗死发病的相关性

目的 探讨脂蛋白脂酶(LPL)、对氧磷酶1(PONl)基因联合作用与脑梗死发病的相关性.方法 选取LPL基因2个SNP和PON1基因2个标签SNP,采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术,对705例脑梗死患者和431例对照组人群进行检测,应用UNPHASED软件、等位基因条件分析的方法,分析基因的联合作用与脑梗死的相关性.结果 LPL基因rs328位点G等位基因分布在动脉粥样硬化性脑梗死组与对照组差异显著(x2=4.83,P=0.034,OR=1.47,95％CI=1.03～2.13);rs326位点G等位基因分布在动脉粥样硬化性脑梗死组与对照组差异显著(x2=3.597,P=0.047,OR=1.64,95％CI =1.12～1.84);PON1基因上的rs2299262位点与LPL基因上的rs328位点联合作用与脑梗死的发病具有相关性(x2=6.26,df =2,P=0.043).结论 LPL基因rs328位点G等位基因携带者患大动脉粥样硬化性脑梗死的风险高于非携带者.LPL基因rs326位点G等位基因携带者患大动脉粥样硬化性脑梗死的风险高于非携带者.PON1基因上的rs2299262位点与LPL基因上的rs328位点联合作用与脑梗死的发病具有相关性.     

中国南方汉族人群ZCCHC14基因多态性与小动脉闭塞性卒中的关系

目的探讨中国南方汉族人群ZCCHC14基因rs12445022位点单核苷酸多态性(single nucleotide polymorphism,SNP)与小动脉闭塞(small artery occlusion,SAO)性卒中的关系。方法纳入中国南方汉族人群SAO患者121例及同期正常对照者140名,收集一般临床资料,采用SNaPshot方法检测基因型,logistic回归分析基因多态性与疾病的相关性。结果SAO组与对照组ZCCHC14基因rs12445022位点AA、GA、GG基因型(2.5%vs.1.4%,18.2%vs.11.4%,79.3%vs.87.2%)及A、G等位基因频率(11.6%vs.7.1%,88.4%vs.92.9%)比较,差异无统计学意义(P>0.05)。rs12445022位点经调整高血压史、糖尿病史、吸烟史、LDL-C等混杂因素后,在显性模型(AA+GA vs.GG)中与SAO显著相关(校正OR=2.12,95%CI:1.02~4.40,P=0.044)。结论ZCCHC14基因SNP rs12445022多态性与中国南方汉族人群SAO发病风险有关。     

ABCB1基因多态性与中国汉族人群动脉粥样硬化性血栓性脑梗死的相关性研究

目的探讨ATP结合盒B亚家族成员1转运蛋白(ABCB1)基因多态性与中国汉族人群动脉粥样硬化性血栓性脑梗死(ATCI)患者的关系。方法选取392例ATCI患者(脑梗死组)和429例健康对照者(对照组),通过SNa Pshot方法对ABCB1基因的rs1128503和rs1045642位点进行SNP检测。比较两组的基因型和等位基因分布频率,分析基因型与临床表型的关系。结果脑梗死组rs1128503和rs1045642位点的基因型及等位基因分布频率与对照组比较,无统计学意义(P0.05)。女性ATCI患者的rs1128503位点TT基因型和CC基因型体重指数高于TC基因型(P=0.007,P=0.011)。女性ATCI患者的rs1045642位点CC基因型低密度脂蛋白-胆固醇水平高于CT基因型(P=0.030)。结论 ABCB1基因多态性与中国汉族人群ATCI的发病无明显相关性。rs1128503位点多态性可能与女性ATCI患者的体重指数有关,rs1045642位点多态性可能与女性ATCI患者的低密度脂蛋白-胆固醇水平有关。     

Synergistic association of DNA repair relevant gene polymorphisms with the risk of coronary artery disease in northeastern Han Chinese

Evidence is mounting suggesting that DNA damage is implicated in the development and progression of atherosclerosis. To yield more information, we focused on six well-characterized polymorphisms from four DNA repair-relevant candidate genes, viz. XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs1800566), to identify and characterize their potential gene-to-gene interactions in susceptibility to coronary artery disease (CAD) in Han Chinese. This was a hospital-based case-control study involving 1142 patients diagnosed with CAD and 1106 age- and gender-matched controls. All participants were angiographically confirmed. Risk estimates were expressed as odds ratio (OR) and 95% confidence interval (95% CI). All six examined polymorphisms met Hardy-Weinberg equilibrium. Overall there were significant differences in the genotype/allele distributions of MTHFR gene rs1801133 and rs4846049 (both P ≤ 0.005), and in the genotype distributions of XRCC1 gene rs1799782 (P = 0.002) between patients and controls. The adjusted risk of having CAD was more evident for rs1799782 (OR = 1.53; 95% CI: 1.16-2.02; P = 0.003), rs1801133 (OR = 1.54; 95% CI: 1.22-1.94; P < 0.001), and rs4846049 (OR = 1.74; 95% CI: 1.13-2.69; P = 0.013) under the recessive model. Interaction analyses indicated that the overall best multifactor dimensionality reduction (MDR) model included rs4846049, rs1801133, and rs1799782, and this model had a maximal testing accuracy of 0.6885 and a cross-validation consistency of 10 out of 10 (P = 0.0030). Further interaction entropy graph bore out the validity of this MDR model. Taken together, our findings demonstrate a contributory role of genetic defects in XRCC1 and MTHFR genes, both individually and interactively, in the development of CAD in Han Chinese.     

rs5848 polymorphism and serum progranulin level

ObjectiveTo assess the influence of rs5848 polymorphism in serum progranulin (PGRN) level in a cohort of subjects with Alzheimer and related dementias from a tertiary referral clinic.BackgroundMutations in the GRN gene cause autosomal dominant frontotemporal dementia (FTD) with TDP-43 pathology (FTLD-TDP) through haploinsufficiency. It has recently been shown that homozygous carriers of the T allele of rs5848 have an elevated risk of developing FTD, and this polymorphism may play a role in the pathogenesis of other dementia by modifying progranulin level. We hypothesize that genotype of rs5848 may influence serum PGRN level in AD, FTD, and other dementias.MethodsBlood samples were obtained from patients with cognitive impairment and dementia referred to a tertiary dementia clinic, as well as samples from a cohort of healthy controls. Serum PGRN level was measured using an ELISA assay, and rs5848 genotype was determined by a TaqMan assay.ResultsWe found that rs5848 SNP significantly influenced serum PGRN level, with TT genotype having the lowest levels, and CC as the highest. This relationship is observed in each of the subgroups. We also confirmed that GRN mutation carriers had significantly lower serum PGRN levels than all other groups.ConclusionsThe rs5848 polymorphism significantly influences serum PGRN with TT carriers having a lower level of serum PGRN then CT and CC carriers. This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias.     

Impact of the PDE4D gene polymorphism and additional SNP–SNP and gene–smoking interaction on ischemic stroke risk in Chinese Han population

Aims: To investigate the association between phosphodiesterase 4D gene (PDE4D) gene single nucleotide polymorphisms (SNPs) and ischemic stroke (IS) risk, and impact of additional SNP- SNP and gene- smoking interaction on IS risk in Chinese population.

Methods: A total of 1228 subjects (666 males, 562 females) were selected, including 610 IS patients and 618 control subjects. Logistic regression model was used to examine the association between SNPs in PDE4D gene and IS risk. Generalized multifactor dimensionality reduction (GMDR) was employed to analyze the SNP- SNP and gene- smoking interaction.

Results: IS risks were significantly higher in carriers of A allele of rs12188950 polymorphism than those with GG genotype (GA + AA vs. GG), adjusted OR (95%CI) = 1.61 (1.26–2.19), and also significantly higher in carriers of T allele of rs966221 polymorphism than those with CC (CT + TT vs. CC), adjusted OR (95%CI) = 1.82 (1.39–2.23). We found that there was a significant SNP- SNP interaction between rs966221 and rs12188950. Subjects with CT or TT of rs966221 and GA or AA of rs12188950 genotype have the highest IS risk, compared to subjects with CC of rs966221 and GG of rs12188950 genotype, OR (95%CI) was 3.52 (2.68–4.69). We also found a significant gene–environment interaction between rs966221 and smoking. Smokers with CT or TT of rs966221 genotype have the highest IS risk, compared to never smokers with CC of rs966221 genotype, OR (95%CI) was 3.97 (2.25–5.71).

Conclusions: Our results support an important association of rs966221 and rs12188950 minor allele and its interaction with increased risk of IS risk, and additional interaction between rs966221 and smoking.     

Association between the RAGE G82S polymorphism and Alzheimer’s disease

The receptor for advanced glycation end products (RAGE) is associated with several pathological states including Alzheimer’s disease (AD) pathology, while its soluble form (sRAGE) acts as a decoy receptor. We have tested for association of AD with a functional single-nucleotide polymorphism (SNP) in the RAGE gene (G82S; rs2070600), a SNP associated with increased ligand affinity of RAGE. Analysis of a Chinese cohort (276 cases; 254 controls) showed a higher prevalence of the RAGE 82S allele and GS + SS genotype in the patients [82S vs. 82G: P = 0.017, odds ratio (OR) = 1.431; GS + SS vs. GG: P = 0.025, OR = 1.490]. Further stratification analysis revealed that the association of the RAGE G82S polymorphism with AD was significant in early onset AD stratum. Moreover, plasma sRAGE levels were lower in AD than in normal elderly controls, and the presence of the risk allele was associated with further plasma sRAGE reduction and a fast cognitive deterioration. The present study provides preliminary evidence that the RAGE G82S variant is involved in genetic susceptibility to AD.     

A Population-based Association Study of Casein Kinase 1 Epsilon Loci with Heroin Dependence in Han Chinese

Pharmacogenetic studies have confirmed that the genetic variant of the casein kinase 1 epsilon (Csnk1ε) gene contributes to response variability to amphetamine and methamphetamine in both mice and humans. A polymorphism in the Csnk1ε gene has been reported to be associated with heroin dependence. In this study, to identify markers contributing to the genetic susceptibility of the Csnk1ε gene to heroin dependence, we examined the potential association between heroin dependence and 14 single nucleotide polymorphisms (SNPs; rs1997644, rs135764, rs867198, rs135763, rs135757, rs6001090, rs5750581, rs1534891, rs1005473, rs3890379, rs2075984, rs2075983, rs135749, and rs135745) of the Csnk1ε gene using the MassARRAY system. Participants included 398 heroin-dependent patients and 436 healthy controls from a Han Chinese population. The result revealed a strong association between the rs135745 (3′-untranslated region) genotype distribution and heroin dependence (P?=?0.0006). The frequency of the C allele was significantly higher in the heroin-dependent patients than in the healthy controls (χ²?=?7.172, P?=?0.007, OR?=?1.426, 95 % CI?=?1.099–1.849). Further genotype and clinical phenotype correlation study of the rs135745 carriers showed that the amount of heroin self-injection was higher in patients with the GC?+?CC genotype compared to the patients with the GG genotypes (P?<?0.01). Strong linkage disequilibrium (LD) was observed in block 1, block 2, and block 3 (D′?>?0.9), whereas significant evidence of LD was not observed between these SNPs in our sample population. These findings point to a role for Csnk1ε polymorphisms in heroin dependence among the Han Chinese population and may be informative for future genetic or neurobiological studies on heroin dependence.     

Genetic Association of SLC2A14 Polymorphism with Alzheimer’s Disease in a Han Chinese Population

Glucose uptake and metabolism are impaired in Alzheimer's disease (AD) brain, which appear to be a cause, rather than a consequence of neurodegeneration. Recently, the gene of the 14th isoform of subfamily A of solute carrier family 2 (SLC2A14), encoding glucose transporter 14 (GLUT14), was identified for the association in vivo with AD pathology of Tau, and rs10845990 within SLC2A14 showed association with AD in Caucasians. In order to evaluate the involvement of the SLC2A14 polymorphism in the risk of developing late-onset Alzheimer's disease (LOAD) in Chinese, we performed an independent case-control association study in a Han Chinese population (597 LOAD cases and 605 healthy controls). There were significant differences in genotype and allele frequencies between LOAD cases and controls (genotype P?=?0.015, allele P?=?0.039). The G-carrying genotype (GT?+?GG) individuals showed a 1.41-fold increased risk compared with the TT genotype carriers (odds ratio (OR)?=?1.41, 95 % confidence interval (CI)?=?1.11-1.79, P?=?0.005, Power?=?83.6 %). After stratification by ApoE ε4-carrying status, rs10845990 polymorphism was only significantly associated with LOAD in non-ApoE ε4 allele carriers (P?相似文献   

Association of <Emphasis Type="Italic">CILP</Emphasis>, <Emphasis Type="Italic">COL9A2</Emphasis> and <Emphasis Type="Italic">MMP3</Emphasis> Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population

Lumbar disc degeneration (LDD) is a multifactorial disorder caused by genetic and environmental factors. Polymorphisms in several structural and inflammatory genes like collagens, aggrecan, matrix metalloproteinases are associated with the risk of disc degeneration. In this study, we analyzed the role of a few important single nucleotide polymorphisms in cartilage intermediate layer protein (CILP), collagen 9A2 (COL9A2) and matrix metalloproteinase 3 (MMP3) genes in LDD from an Indian population. Two hundred patients with LDD and 200 healthy controls were recruited for the study. Genotyping was performed by allelic discrimination assay. The rs2073711 polymorphism (CILP gene - GG genotype) was associated with reduced risk of LDD in the Indian population (OR?=?0.43, p?=?0.016). The rs591058 polymorphism (MMP3 gene - TT genotype) is found to be associated with lower risk among women (OR?=?0.34, p?=?0.041). No significant association was found between COL9A2 polymorphism rs7533552 and the risk of LDD. We conclude that the CILP gene polymorphism (rs2073711) is associated with a lower risk of LDD, the MMP3 (rs591058) gene polymorphism is associated with LDD among women, and the TT genotype confers a lower risk of LDD.     

Genetic Polymorphisms in Pre-microRNAs and Risk of Ischemic Stroke in a Chinese Population

Ischemic stroke is considered to be a complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. MicroRNAs participated in various physiopathological processes; common single-nucleotide polymorphisms (SNPs) in pre-miRNAs have been shown to be associated with susceptibility to several human diseases. We evaluated the associations of the hsa-mir-196-a2/rs11614913 T/C, hsa-mir-146a/rs2910164 C/G, and hsa-mir-499/rs3746444 A/G polymorphisms in pre-miRNAs with the risk of ischemic stroke in a Chinese population. The three polymorphisms were identified in 296 ischemic stroke patients and 391 healthy controls using polymerase chain reaction–restriction fragment length polymorphism. The frequency of the allele G of hsa-mir-499/rs3746444 A/G showed significant association with ischemic stroke when compared with controls (OR?=?1.509, 95%CI?=?1.151–1.978, P?=?0.003). Increased ischemic stroke risks were associated with rs3746444 A/G genotypes in different genetic model (homozygote comparison: P?=?0.045, OR?=?2.084, 95%CI?=?1.019–4.262; heterozygote comparison: P?=?0.024, OR?=?1.489, 95%CI?=?1.063–2.087; dominant genetic model: P?=?0.007, OR?=?1.563, 95%CI?=?1.135–2.153). Similar results were obtained by adjusted fully risk factors. However, we failed to find any association between the alleles and genotypes of rs2910164 C/G and rs11614913 T/C SNPs and ischemic stroke, respectively (p?>?0.05). The present study provided evidence that hsa-mir-499/rs3746444 A/G polymorphism might be associated with a significantly increased risk of ischemic stroke in a Chinese population, indicating that the common genetic polymorphism in pre-microRNAs contributed to the pathogenesis of ischemic stroke.     

The -141C Ins/Del and Taq1A polymorphism in the dopamine D2 receptor gene may confer susceptibility to schizophrenia in Asian populations

It has been reported that two single nucleotide polymorphisms (SNP) Taq1A and -141C Ins/Del in the DRD2 gene may be associated with susceptibility to schizophrenia. Due to inconclusive and mixed results, a meta-analysis was conducted to further clarify the relationship between the two SNP and schizophrenia susceptibility. A systematic literature search for the association of these two SNP with schizophrenia susceptibility was conducted using PubMed, ScienceDirect, Chinese Biomedical Literature Database, and Chinese National Knowledge Infrastructure. Odds ratios (OR) with 95% confidence intervals (CI) were used to assess the strength of the associations reported. A total of 5558 schizophrenic patients and 6792 healthy controls from 31 articles were included in this study. Evidence regarding the association between -141C Ins/Del polymorphism and schizophrenia was found in the allele frequency comparison (Ins versus Del: OR 1.29, 95% CI 1.06–1.57; p = 0.01, P_raw = 0.1, P_{False Discovery Rate} = 0.023). In ethnic subgroup analysis, the result revealed that the 141C Ins/Del polymorphism was associated with schizophrenia in all genetic models in Asians, but not in Caucasians. For Taq1A polymorphism, a significant association was found in the allele frequency (A1 versus A2: OR 0.71, 95% CI 0.52–0.98, p = 0.03). Stratification by ethnicity indicated an association between the Taq1A polymorphism and schizophrenia in Asians, but not Caucasians. The present study suggests that the -141C Ins/Del polymorphism carries a significantly increased risk of schizophrenia, while the Taq1A polymorphism carries a significantly decreased risk of schizophrenia susceptibility in Asians.