目的:在缺血性卒中家系中探讨PDE4D基因rs966221位点多态性与缺血性卒中及其相关性状的关系。方法:采用家系研究设计,应用广义估计方程(generalized estimating equation,GEE)进行多因素的回归分析,并用非参数连锁分析和以家系为基础的...目的:在缺血性卒中家系中探讨PDE4D基因rs966221位点多态性与缺血性卒中及其相关性状的关系。方法:采用家系研究设计,应用广义估计方程(generalized estimating equation,GEE)进行多因素的回归分析,并用非参数连锁分析和以家系为基础的关联检验(family based association test,FBAT)进行连锁和关联分析。结果:共纳入276个缺血性卒中家系,776名研究对象。应用GEE控制混杂因素并调整家系内部相关性后,载脂蛋白B、颈动脉内膜中层厚度、高密度脂蛋白胆固醇及血压水平与缺血性卒中相关(P<0.05)。非参数连锁分析和FBAT分析均未发现rs966221位点多态性与缺血性卒中相关,但该位点与卒中相关的数量性状存在连锁和关联关系。非参数连锁分析发现,在调整可能的混杂因素后,rs966221位点与载脂蛋白B(P<0.001)、超敏C反应蛋白水平(P=0.003)、收缩压(P=0.036)存在连锁;在调整高脂血症、高血压等疾病的患病状态后,rs966221位点TT基因型(P=0.019)和CT基因型(P=0.007)与颈动脉内膜中层厚度相关,显性模型中C等位基因与颈动脉内膜中层厚度具有统计学关联(P=0.019)。结论:血脂、血压的异常以及颈动脉内膜中层增厚与缺血性卒中相关,PDE4D基因rs966221位点与载脂蛋白B、超敏C反应蛋白及收缩压水平存在连锁,该位点C等位基因与颈动脉内膜中层厚度具有统计学关联。展开更多
AIM:To explore the association between mothers against decapentaplegic homolog 4 (SMAD4) gene polymorphisms and gastric cancer risk.METHODS:Five tagging single nucleotide polymor-phisms (tSNPs) in the SMAD4 gene were ...AIM:To explore the association between mothers against decapentaplegic homolog 4 (SMAD4) gene polymorphisms and gastric cancer risk.METHODS:Five tagging single nucleotide polymor-phisms (tSNPs) in the SMAD4 gene were selected and genotyped in 322 gastric cancer cases and 351 cancerfree controls in a Chinese population by using the polymerase chain reactionrestriction fragment length polymorphism method.Immunohistochemistry was used to examine SMAD4 protein expression in 10 normal gastric tissues adjacent to tumors.RESULTS:In the single-locus analysis,two significantly decreased risk polymorphisms for gastric cancer were observed:the SNP3 rs17663887 TC genotype (adjusted odds ratio=0.38,95% confidence interval:0.21-0.71),compared with the wild-type TT genotype and the SNP5 rs12456284 GG genotype (0.31,0.16-0.60),and with the wild-type AA genotype.In the combined analyses of these two tSNPs,the combined genotypes with 2-3 protective alleles (SNP3 C and SNP5 G allele) had a significantly decreased risk of gastric cancer (0.28,0.16-0.49) than those with 0-1 protective allele.Furthermore,individuals with 0-1 protective allele had significantly decreased SMAD4 protein expression levels in the norma tissues adjacent to tumors than those with 2-3 protective alleles (P=0.025).CONCLUSION:These results suggest that genetic variants in the SMAD4 gene play a protective role in gastric cancer in a Chinese population.展开更多
文摘目的:在缺血性卒中家系中探讨PDE4D基因rs966221位点多态性与缺血性卒中及其相关性状的关系。方法:采用家系研究设计,应用广义估计方程(generalized estimating equation,GEE)进行多因素的回归分析,并用非参数连锁分析和以家系为基础的关联检验(family based association test,FBAT)进行连锁和关联分析。结果:共纳入276个缺血性卒中家系,776名研究对象。应用GEE控制混杂因素并调整家系内部相关性后,载脂蛋白B、颈动脉内膜中层厚度、高密度脂蛋白胆固醇及血压水平与缺血性卒中相关(P<0.05)。非参数连锁分析和FBAT分析均未发现rs966221位点多态性与缺血性卒中相关,但该位点与卒中相关的数量性状存在连锁和关联关系。非参数连锁分析发现,在调整可能的混杂因素后,rs966221位点与载脂蛋白B(P<0.001)、超敏C反应蛋白水平(P=0.003)、收缩压(P=0.036)存在连锁;在调整高脂血症、高血压等疾病的患病状态后,rs966221位点TT基因型(P=0.019)和CT基因型(P=0.007)与颈动脉内膜中层厚度相关,显性模型中C等位基因与颈动脉内膜中层厚度具有统计学关联(P=0.019)。结论:血脂、血压的异常以及颈动脉内膜中层增厚与缺血性卒中相关,PDE4D基因rs966221位点与载脂蛋白B、超敏C反应蛋白及收缩压水平存在连锁,该位点C等位基因与颈动脉内膜中层厚度具有统计学关联。
基金Supported by The National Natural Science Foundation of China,No.30800926,No.30872084,No.81001274,and No.30972444the Natural Science Foundation of Jiangsu Province,No.BK2010080
文摘AIM:To explore the association between mothers against decapentaplegic homolog 4 (SMAD4) gene polymorphisms and gastric cancer risk.METHODS:Five tagging single nucleotide polymor-phisms (tSNPs) in the SMAD4 gene were selected and genotyped in 322 gastric cancer cases and 351 cancerfree controls in a Chinese population by using the polymerase chain reactionrestriction fragment length polymorphism method.Immunohistochemistry was used to examine SMAD4 protein expression in 10 normal gastric tissues adjacent to tumors.RESULTS:In the single-locus analysis,two significantly decreased risk polymorphisms for gastric cancer were observed:the SNP3 rs17663887 TC genotype (adjusted odds ratio=0.38,95% confidence interval:0.21-0.71),compared with the wild-type TT genotype and the SNP5 rs12456284 GG genotype (0.31,0.16-0.60),and with the wild-type AA genotype.In the combined analyses of these two tSNPs,the combined genotypes with 2-3 protective alleles (SNP3 C and SNP5 G allele) had a significantly decreased risk of gastric cancer (0.28,0.16-0.49) than those with 0-1 protective allele.Furthermore,individuals with 0-1 protective allele had significantly decreased SMAD4 protein expression levels in the norma tissues adjacent to tumors than those with 2-3 protective alleles (P=0.025).CONCLUSION:These results suggest that genetic variants in the SMAD4 gene play a protective role in gastric cancer in a Chinese population.
