难治性癫痫患病风险与MDRI基因tag SNPs rs3789243及rs2235046位点多态性的相关性

目的 探讨MDRI基因tag SNPs与中国汉族难治性癫痫患病风险的关系.方法 安徽合肥周边地区的汉族癫痫患者164例和健康对照198例,通过传统SNP基因分型技术PER-CTPP对MDRI基因的标签SNPs rs3789243和rs2235046进行基因分型,随机样本测序验证,并进行统计学分析.结果 SNPs rs3789243的CC基因型分布频率在癫痫病例组和正常对照组之间、难治组和对照组之间均有显著性差异(P<0.01),相对危险度分别为4.315和7.123(P<0.01);SNPs rs2235046的AA基因型分布频率在癫痫病例组和对照组之间有显著性差异(P<0.01),相对危险度为2.837(P<0.01).结论 MDRI基因多态性ra3789243基因型CC和rs2235046基因型AA可能与癫痫的患病风险升高有关;rs3789243基凶型CC可能与IE风险升高有关.     

难治性癫痫患病风险与MDRI基因tag SNPs rs3789243及rs2235046位点多态性的相关性

目的 探讨MDRI基因tag SNPs与中国汉族难治性癫痫患病风险的关系.方法 安徽合肥周边地区的汉族癫痫患者164例和健康对照198例,通过传统SNP基因分型技术PER-CTPP对MDRI基因的标签SNPs rs3789243和rs2235046进行基因分型,随机样本测序验证,并进行统计学分析.结果 SNPs rs3...     

云南汉族ATP2B1基因标签SNPs与原发性高血压的关系

目的探讨Ⅰ型细胞膜钙离子转运酶(ATP2B1)基因标签单核苷酸多态(SNPs)与云南汉族原发性高血压(EH)的相关性。方法用聚合酶链式反应-限制性片段长度多态性方法,检测1020例云南汉族人(EH组和对照组各510例)ATP2B1基因12个标签SNPs(rs10506974、rs10506975、rs2854371、rs957525、rs3741895、rs2681472、rs2070759、rs12423192、rs1050395、rs11105357、rs11105358和rs7975689)和ATP2B1基因附近区域的rs17249754位点的多态性。结果 rs17249754位点基因型和等位基因频率在EH组和对照组间的分布均具有显著性差异(P0.01),Logistic回归分析发现,rs17249754位点AA基因型和A等位基因使EH患病风险显著性降低(OR=0.60,95%CI 0.40~0.89,校正P0.05;OR=0.73,95%CI 0.60~0.88,校正P0.01)。结论 ATP2B1基因附近区域rs17249754位点与云南汉族人群EH相关,rs17249754 A等位基因可能是降低云南汉族EH风险的保护因子。     

AXIN2基因三个位点与先天性巨结肠的关联研究

目的 探讨AXIN2基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)rs2240308、rs8081536和rs9913621 3个位点与先天性巨结肠(Hirschspnmg disease,HSCR)的关联性.方法 对120例HSCR患者和120名正常人群外周血进行基因组DNA抽提,用PCR技术对AXe2基因3个位点(rs2240308、rs8081536和rs9913621)进行PCR扩增,PCR产物用内切酶CviJ I、Dde I和BaN I消化,将SNPs位点进行分型与分析,应用X2检验统计分析病例组和对照组等位基因频率、等位基因型频率及其患病风险;同时将PCR产物进行测序,以进一步确定基因突变位点.结果 HSCR组与对照组AXIN2 rs8081536 CC和CT基因型频率差异无统计学意义(P＞0.05);而HSCR组与对照组AXIN2 rs2240308 GG、AG和从基因型频率及A和G等位基因频率差异有统计学意义(P＜0.05),GC和从基因型及G等位基因的患病风险分别为2.091、0.846和1.703;HSCR组与对照组AXIN2 rs9913621 CC、CT和TT基因型频率及C和T等位基因频率差异有统计学意义(P＜0.05),CC和TT基因型及T等位基因的患病风险分别为0.535、1.113和1.569.测序rs2240308第301位密码子核苷酸GCA→CCA杂合突变;rs913621第199位密码子核苷酸CAC→CAG杂合突变.结论 AXIN2 rs8081536等位基因变异与HSCR的易感性无关;AXIN2 rs2240308和rs9913621与HSCR的发生可能有关联,具有GG基因型与CC基因型患HSCR的危险性相对较高.     

宁夏回、汉族群体LIN28B基因多态性

目的 探讨LIN28B基因rs314277和rs314276位点在宁夏地区回、汉族群体中及不同性别间的分布特征。方法 研究对象来自宁夏医科大学2011级健康学生共705例,其中男性回、汉族分别为144例和167例,女性回、汉族分别为188例和206例。SNPs分型均采用基因测序来检测。 结果 宁夏回族群体LIN28B基因两个多态位点基因型频率及等位基因频率分别为：男性rs314277 (AC:4.5%,CC:38.9%; A:2.3%, C:41.1%); rs314276(AA: 2.7%,AC:21.4%,CC:19.3%; A:13.4%,C:30.0%);女性rs314277(AA: 0.6%,AC:7.5%,CC:48.5%; A:4.4%, C:52.3%); rs314276(AA:3.3%,AC:28.9%,CC:24.4%;A:17.8%,C:38.9%);宁夏汉族群体LIN28B基因两个多态位点基因型频率及等位基因频率分别为：男性rs314277(AC:3.2%, CC:41.6%; A:1.6%, C:43.2%); rs314276(AA: 4.6%,AC:17.4%, CC:22.8%; A:13.3%, C:31.5%);女性rs314277(AC:4.6%, CC:50.7%; A:2.3%, C:52.9%); rs314276(AA: 4.8%,AC:18.8%,CC:31.6%; A:14.2%, C:41.0%)。 结论 宁夏人群LIN28B基因rs314277多态性位点等位基因频率在回、汉族之间差异有显著性(P<0.05);rs314276多态性位点基因型频率在回、汉族之间差异有显著性(P<0.05);LIN28B基因两个多态性位点在宁夏不同性别之间差异无显著性(P>0.05);宁夏人群两个多态性位点基因型和等位基因型频率的分布与人类基因组计划扫描所得不同种族人群相比差异有显著性(P<0.05)。     

维吾尔族、汉族散发性乳腺癌BRCA1基因rs16941及rs16942位点多态性分析

目的探讨维吾尔族及汉族散发性乳腺癌BRCA1基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)是否存在差异,并分析SNPs位点与肿瘤易感性的关系。方法选取100例散发性乳腺癌(维吾尔族、汉族各50例)及100例乳腺腺病(维吾尔族、汉族各50例)作为分析对象,对BRCA1基因rs16941及rs16942进行DNA测序。结果 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组之间的分布差异有统计学意义(P=0.009,P=0.017)。肿瘤易感性比较:维吾尔族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.964,95%CI:0.260~3.583,P=0.009);维吾尔族rs16942位点中AG与AA基因型相比,其能够增加乳腺癌的发病风险(OR=1.017,95%CI:0.293~3.916,P=0.017)。汉族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.824,95%CI:0.210~3.234,P=0.044)。结论 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组的分布,差异有统计学意义;SNPs与肿瘤易感性有相关性。     

多囊卵巢综合征患者FEM1A基因的多态性研究

目的 通过分析多囊卵巢综合征(polycystic ovary syndrome,PCOS)患者FEMlA基因单核苷酸多态性(single nueleotide polymorhisms,SNPs),初步探讨FEMlA基因多态性与PCOS的关系.方法 采用SNPs直接DNA测序法对120例PCOS患者和155名健康志愿者FEMlA基因的rs12460989和rs8111933位点进行分型,同时分析其与高雄激素血症、胰岛素抵抗(insulin resistance,IR)的关系.结果 中国汉族人群FEMlA基因rs12460989检测到TT、TG和GG等3种基因型,rs8111933检测到GG、GC和CC等3种基因型.与对照组相比,PCOS组rs12460989和rs8111933等位基因分布的差异均有统计学意义(X2=33.302,P＜0.01;X2=11.252,P＜0.01).多因素非条件Logistic回归分析显示,rs12460989 TG+GG基因型和rs8111933 GC+CC基因型人选高雄激素血症风险因素的主效应模型,rs8111933 GC+CC基因型入选IR风险因素的主效应模型.结论 FEMIA基因rs12460989、rs8111933多态性与PCOS的发病风险存在关联.两者可能是高雄激素血症潜在的风险因素,且rs8111933多态性可能是IR潜在的风险因素.     

广西壮族及汉族人群CD40配体基因rs3092923G/A和rs3092929A/C遗传多态性的研究

目的探讨CD40配体基因rs3092923G/A和rs3092929A/C多态性位点在广西壮族及汉族人群中的分布,同时比较其基因型及等位基因频率分布在不同种族人群之间以及同一种族不同性别之间存在的差异。方法采用单碱基延伸PCR的检测方法,分析201名广西汉族人和199名广西壮族人的CD40配体基因rs3092923G/A和rs3092929A/C多态性。结果在广西壮族人群中,CD40配体基因rs3092923G/A位点AA、AG与GG基因型频率和rs3092929A/C位点AA、AC与CC基因型频率均为86.4%、7.5%和6.0%,rs3092923G/A位点的A、G等位基因频率和rs3092929A/C位点的A、C等位基因频率均为90.2%、9.8%;在广西汉族人群中,CD40配体基因rs3092923G/A位点AA、AG与GG基因型频率和rs3092929A/C位点AA、AC与CC基因型频率均为93.0%、4.0%、3.0%,rs3092923G/A位点的A、G等位基因频率和rs3092929A/C位点的A、C等位基因频率均为95.0%、5.0%。将这2个多态性位点基因型分布频率在2个民族人群中比较,差异均无显著性(P均>0.05),而等位基因频率却有着显著性差异(P均<0.05)。另外,将这2个位点多态性分布频率在男女性别之间作比较,差异都没有显著性(P均>0.05)。进一步与人类基因组计划公布的4个人群相比,广西汉族人群的rs3092923G/A和rs3092929A/C 2位点基因型和等位基因频率与非洲、日本、欧洲和北京人群比较,差异都具有显著性(P均<0.05)。结论在广西地区壮族及汉族人群中存在着CD40配体基因多态性。广西汉族人群CD40配体基因多态性的分布频率同其他种族人群比较存在着显著性差异,这种差异可能是导致与CD40配体相关的疾病在不同种族人群间的临床表现以及发病率存在明显不同的原因之一。     

新疆维吾尔族、汉族健康人群血清淀粉样蛋白A1基因多态性分布特征

目的 探讨血清淀粉样蛋白A1(serum amyloid protein A1,SAA1)基因标签单核苷酸多态(tagging single nucleotide polymorphism,tagSNP)rs2229338和rs12218在新疆维吾尔族和汉族健康人群中的分布特征.方法 入选新疆地区维吾尔族(n=316)和汉族(n=362)健康人群,采用限制性片段长度多态性的方法进行基因分型.结果 (1)rs2229338三种基因型在维吾尔族人群中的分布频率分别为:AA型76.6%,AG型23.4%,GG型0;在汉族人群中的分布频率分别为:AA型91.7%,AG型7.7%,GG型0.6%.两组基因型分布差异有统计学意义(P＜0.01);(2)rs12218三种基因型在维吾尔族人群中的分布频率分别为:CC型10.1%,CT型47.5%,TT型42.4%;在汉族人群中的分布频率分别为:CC型3.3%,CT型34.3%,TT型62.4%.两组基因型分布差异有统计学意义(P＜0.01);(3)rs12216和rs2229338共构建4个单倍型,其中A-C和G-T单倍型在维吾族中的分布明显高于汉族(P＜0.01),A-T单倍型在汉族中的分布明显高于维吾尔族(P＜0.01).结论 SAA1基因标签SNP在新疆汉族和维吾尔族健康人群中的分布具有明显的差异,维族人群突变频率可能高于汉族人群.     

CYP4A11基因多态性与心肌梗死相关

目的 研究在不同性别中CYP4A11基因多态性与心肌梗死的关系.方法 166例心肌梗死患者和158例对照组,选择CYPA11基因的3个SNPs(rs9332978、rs3890011和rs1126742),应用TaqMan SNP基因分型法进行基因分型,并应用病例对照的研究方法进行相关性分析.结果 rs3890011的基因分型在心肌梗死组和对照组之间的分布存在明显差异(P＜0.05),心肌梗死组携带GG基因型(GG vs CC+ GC)高于对照组(P＜0.05),在排除吸烟、高血压、糖尿病等混杂因素后,仍存在显著性差异(95％ CI:1.138～2.432,P＜0.01).结论 CYP4A11基因的rs3890011多态性与心肌梗死相关,rs3890011的GG基因型可作为心肌梗死易感基因标记.     

Association study of SCARB2 rs6812193 polymorphism with Parkinson's disease in Han Chinese

Recently, a nucleotide polymorphism rs6812193 near SCARB2 was found to be significantly associated with Parkinson's disease (PD) in populations of European ancestry. Herein, we conducted a case-control study with attempt to further evaluate the association between SNP rs6812193 and PD in a Chinese population from mainland China. rs6812193 was genotyped by PCR-RFLP technique in 449 PD patients and 452 controls in a Chinese population. In our study, we did not detect statistically significant differences between cases and controls in terms of both allele and genotype distribution of the rs6812193 polymorphism (P=0.97 and P=0.77, respectively), even after stratification by age at onset. Our data do not support the association of SNP rs6812193 with PD in Han Chinese of mainland China.     

Lack of association between rs3807989 in cav1 and atrial fibrillation

Background: A novel gene Caveolin-1(CAV1) was identified to be susceptibility to PR interval and also associated with atrial fibrillation (AF) in two Genome wide associations studies (GWAS) studies in European ancestry. The purpose of this study was to determine the association of the SNPs in CAV1 gene of rs3807989 with AF in Chinese Han patients. Methods and results: We attempted a replication in a cohort of 839 Chinese AF patients and 1215 healthy controls using melting temperature shift allele-specific genotyping analysis. One SNP in CAV1 (rs3807989) was genotyped. The final study cohort consisted of 839 AF patients and 1215 healthy controls. No significant association was detected between rs3807989 and AF in a Chinese Han population (allelic P-adj = 0.828 with OR = 1.02; genotypic P-adj = 0.815, 0.405, 0.760 with a dominant model, recessive model, and additive model). After logistic regression with multiple covariates, the association remained non-significant with adjusted P value 0.828. When the AF cases were further divided into lone AF (31.5%) and other types of AF (68.5%), no significant association was found between rs3807989 and lone AF (P-adj = 0.929 with OR = 0.990) and other types of AF (P-adj = 0.597 with OR = 1.060). Conclusion: The SNP rs3807989 in CAV1 gene is not associated with AF or lone AF in our studies, which suggests that the SNP rs3807989 in CAV1 may not be a risk factor for AF in Chinese Han population.     

The CELSR1 polymorphisms rs6007897 and rs4044210 are associated with ischaemic stroke in Chinese Han population

Background: Recently, CELSR1 was identified by genome-wide association studies (GWAS) as a susceptibility gene for ischaemic stroke (IS) in Japanese individuals.

Aim: The goal was to examine whether CELSR1 variants are associated with IS in the Chinese Han population.

Subjects and methods: This study genotyped two single nucleotide polymorphisms (SNPs) of CELSR1, rs6007897 and rs4044210, in a Chinese sample of 569 IS cases and 581 controls and assessed their genotype and allele associations with IS.

Results: The results showed that rs6007897 and rs4044210 variants of CELSR1 were significantly (p?p?Conclusion: Taken together, the present study has proven for the first time that CELSR1 is a susceptibility gene for IS in the Chinese Han population, especially for LAA.     

The impact of pri-miR-218 rs11134527 on the risk and prognosis of patients with esophageal squamous cell carcinoma

MicroRNA-218 (miR-218) acts as a tumor suppressor in numerous types of cancer by regulation of the expression of target genes. The aim of this study was to investigate whether polymorphisms in miR-218 LAMB3 pathway were associated with the risk and prognosis of esophageal squamous cell carcinoma (ESCC). Pri-mir-218 rs11134527 and LAMB3 rs2566 were genotyped in ESCC patients and 745 controls to assess their associations with cancer risk and overall survival. Pri-mir-218 rs11134527 was significantly associated with a decreased risk of ESCC under codominant, recessive and additive models. Although there was a significant association between rs11134527 and better survival of ESCC patients under codominant, recessive and additive models, the association disappeared after adjustment for TNM and LNM. However, further stratified analysis revealed that the association remained significant in patients with TNM stages I and II or non-LNM. Our data suggest that pri-miR-218 rs11134527 may contribute to the genetic susceptibility and prognosis for ESCC in Chinese Han population.     

VEGF rs3025039和rs3025021多态性与胃癌组织中VEGF、COX-2表达的关系

目的研究血管内皮生长因子(VEGF)基因单核甘酸多态性与安徽地区胃癌易感性关系以及与胃癌临床病理特征和胃癌组织VEGF、环氧化酶-2(COX-2)蛋白表达的关系。方法采用基因测序仪对安徽地区238例胃癌患者及425例正常对照组血样进行VEGF rs3025039和rs3025021的多态性测序,用组织芯片技术及免疫组化法检测相应胃癌组织和30例癌旁组织中VEGF和COX-2的分布。结果与正常对照相比,胃癌患者VEGF rs3025039TT基因型可能增加胃癌风险性(P=0.047,OR=2.86,95%CI=1.01～8.08)。rs3025021CT基因型显著降低胃癌风险性(P=0.032,OR=0.65,95%CI=0.44～0.96)。胃癌组织VEGF和COX-2的阳性率分别为62.6%及61.8%,显著高于癌旁组织的26.7%(P=0.000)和36.7%(P=0.008),并与TNM分期、肿瘤大小、浸润深度、淋巴结转移、临床分期(仅VEGF)及组织学类型(仅COX-2)有关(P=0.001～0.05)。VEGF表达与COX-2呈正相关(rs=0.178,P=0.006)。除VEGF rs3025021与肿瘤大小有关(P=0.026)外,VEGF rs3025039和rs3025021与胃癌临床病理学参数及VEGF及COX-2表达均无关。结论VEGF rs3025039和rs3025021多态性影响安徽地区的胃癌易感性,对胃癌组织VEGF表达无明显影响;VEGF及COX-2表达与胃癌的肿瘤侵袭性密切相关,二者对胃癌的恶化进展可能有一定的协同作用。     

GDF5基因rs224331多态性与汉族青少年体格发育指标关联分析

目的探讨中国汉族青少年GDF5基因rs224331位点多态性与身高、体重和BMI的相关性。方法采集江苏省某技校1790名17～22岁青少年的身高、体重指标并计算BMI。采用Taqman探针real-timePCR方法检测GDF5基因rs224331位点的单核苷酸多态性,并分析该基因位点与男女生身高、体重和BMI的相关性。结果 97.9%（1754/1790名）基因分型成功,男生859名,女生895名。rs224331位点频率最高的基因型为AA（51.7%）,其次为AC（39.6%）,CC最少（8.7%）。rs224331的基因型分布与男生、女生的身高无显著关联（P分别为0.728和0.723）;rs224331不同基因型间的男生体重和BMI差异均有统计学意义（P均〈0.01）,男生AC基因型体重和BMI均显著高于AA基因型（P=0.002）,女生中未发现类似的相关性（P分别为0.713和0.921）。结论 GDF5基因rs224331位点多态性在本研究的汉族人群中与身高无明显关联,提示该多态性位点可能存在种族特异性。rs224331位点多态性与男生体重和BMI存在相关性。     

基质金属蛋白酶9基因多态性与汉族女性青少年特发性脊柱侧凸的关联分析

目的 探讨基质金属蛋白酶9 (matrix metalloproteinase 9,MMP9)基因多态性与汉族女性青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)发生和发展的关系.方法 以rs17576、rs2250889、rs1805088 3个标签单核苷酸多态性(single nucleotide polymorphisms,SNPs)作为遗传标记,通过TaqMan荧光探针法对190例AIS患者和190名年龄匹配汉族女性正常对照进行等位基因分型.对结果进行Hardy-Weinberg遗传平衡检验、Pearson x2检验、非条件Logistic回归分析、连锁不平衡检验和单倍型分析,并分析基因型与表型的关系.结果 正常对照组rs17576、rs2250889、rs1805088 3个位点基因型分布符合Hardy-Weinberg平衡(P＞0.05);基因型-表型分析发现rs2250889位点基因型为CC的患者的最大Cobb角(48.50°)大于基因型为GG(25.98°)或GC(28.35°)者(P＜0.05),其侧凸程度较严重.结论 目前尚不能认为MMP9基因是汉族女性AIS的易感基因,但rs2250889纯合变异者脊柱侧凸较严重,提示MMP9异常可导致脊柱侧凸的进展.     

Single nucleotide polymorphisms rs2120131, rs4935047, and rs7095891 in the MBL2 gene show no association with susceptibility to chronic hepatitis B in a Chinese Han population

Thus far, many studies have evaluated the correlation between MBL2 gene polymorphisms and hepatitis B infection. Tag single nucleotide polymorphisms (SNPs) were used to investigate the relationship between MBL2 gene polymorphisms and susceptibility to chronic hepatitis B virus (HBV) infection by comparing 996 chronic HBV infection cases to 301 acute infection controls. There was no significant correlation between rs2120131, rs4935047, and rs7095891 and chronic HBV infection. This suggested that the new SNPs within MBL2 were not associated with susceptibility to chronic hepatitis B in a Chinese Han population. J. Med. Virol. 85:602–607, 2013. © 2013 Wiley Periodicals, Inc.     

血管内皮生长因子A基因rs9369425变异与中国人糖代谢的相关性

目的 研究血管内皮生长因子A(vascular endothelial growth factor A,VEGFA)基因单核苷酸多态性(single nucleotide polymorphism,SNP)rs9369425与中国汉族人中2型糖尿病的关系.方法 本研究入选1892例2型糖尿病患者和1808名正常对照者.测定临床变量包括体重指数、腰围、腰臀比以及口服糖耐量试验中空腹、糖刺激后120 min血糖、胰岛素,使用稳态评估模型估测胰岛素敏感性和胰岛β细胞功能.使用时问飞行质谱法对rs9369425进行检测.结果 rs9369425罕见等位基因为G,其在病例组中频率为10.8%,对照组中频率为11.3%,未发现rs9369425与2型糖尿病相关性(P=0.5086).分析其与各糖代谢相关临床指标亦未见到显著关联(P值均＞0.05).结论 VEGFA基因rs9369425位点与中国人2型糖尿病无关,该基因区域是否存在其它变异参与2型糖尿病待进一步研究.