The genes for 5-1ipoxygenase activating protein （ALOX5AP） and phosphodiesterase 4D （PDE4D） have been demonstrated as susceptibility genes for lacunar in the Icelandic and Pakistani populations, but little is known...The genes for 5-1ipoxygenase activating protein （ALOX5AP） and phosphodiesterase 4D （PDE4D） have been demonstrated as susceptibility genes for lacunar in the Icelandic and Pakistani populations, but little is known about the role of these genes in Chinese populations. The present study utilized polymerase chain reaction and ligase detection reaction to detect single nucleotide polymorphisms （SNPs） in 280 consecutive stroke patients and 258 unrelated population-based controls from Nanjing, Jiangsu Province, China. The allele frequency, genotypes, and haplotypes of the two SNPs （rs456009 and rs966221） in PDE4D were similar between the two groups. However, A allele frequency of rs4073259 （A/G） and rs4769055 （A/C） in the ALOX5AP gene exhibited differences in two groups, and especially the haplotype of the SNP was significantly different between the two groups. Results suggested that the ALOX5AP gene might be involved in lacunar infarct, while PDE4D gene was not a risk factor for lacunar infarct in individuals from Jiangsu Province, China.展开更多
目的：探讨人类白细胞抗原（ HLA）-DQA1位点基因多态性与尘肺病发病的相关性。方法采用1∶1配比的病例-对照研究方法，选取130例已确诊为尘肺病的患者作为尘肺组，另选130例与尘肺组年龄和累计接尘工龄相近、同性别、同民族、同一工作...目的：探讨人类白细胞抗原（ HLA）-DQA1位点基因多态性与尘肺病发病的相关性。方法采用1∶1配比的病例-对照研究方法，选取130例已确诊为尘肺病的患者作为尘肺组，另选130例与尘肺组年龄和累计接尘工龄相近、同性别、同民族、同一工作地点的健康接尘工人作为对照组。用多重聚合酶链反应-连接酶检测反应分型法，检测2组研究对象HLA-DQA1共6个位点的等位基因，并分析其与尘肺病的相关性。结果尘肺组HLA-DQA1＊0201和HLA-DQA1＊0601基因频率均高于对照组（14.62％ vs 8.85％，12.69％ vs 7.31％），而HLA-DQA1＊0101基因频率低于对照组（34.23％vs 43.08％），差异均有统计学意义（P＜0.05）。 Logistic回归分析显示，HLA-DQA1＊0101、HLA-DQA1＊0201和HLA-DQA1＊0601等位基因频率与尘肺病有关联（P＜0.05），优势比分别为0.688、1.764和1.844，95％可信区间分别为（0.482～0.981）、（1.018～3.055）和（1.019～3.336）。结论 HLA-DQA1＊0201和HLA-DQA1＊0601基因可能是尘肺病的易感基因，HLA-DQA1＊0101基因可能是尘肺病的保护基因。展开更多
基金the General Program of National Natural Science Foundation of China,No.30870125
文摘The genes for 5-1ipoxygenase activating protein （ALOX5AP） and phosphodiesterase 4D （PDE4D） have been demonstrated as susceptibility genes for lacunar in the Icelandic and Pakistani populations, but little is known about the role of these genes in Chinese populations. The present study utilized polymerase chain reaction and ligase detection reaction to detect single nucleotide polymorphisms （SNPs） in 280 consecutive stroke patients and 258 unrelated population-based controls from Nanjing, Jiangsu Province, China. The allele frequency, genotypes, and haplotypes of the two SNPs （rs456009 and rs966221） in PDE4D were similar between the two groups. However, A allele frequency of rs4073259 （A/G） and rs4769055 （A/C） in the ALOX5AP gene exhibited differences in two groups, and especially the haplotype of the SNP was significantly different between the two groups. Results suggested that the ALOX5AP gene might be involved in lacunar infarct, while PDE4D gene was not a risk factor for lacunar infarct in individuals from Jiangsu Province, China.
文摘目的：探讨人类白细胞抗原（ HLA）-DQA1位点基因多态性与尘肺病发病的相关性。方法采用1∶1配比的病例-对照研究方法，选取130例已确诊为尘肺病的患者作为尘肺组，另选130例与尘肺组年龄和累计接尘工龄相近、同性别、同民族、同一工作地点的健康接尘工人作为对照组。用多重聚合酶链反应-连接酶检测反应分型法，检测2组研究对象HLA-DQA1共6个位点的等位基因，并分析其与尘肺病的相关性。结果尘肺组HLA-DQA1＊0201和HLA-DQA1＊0601基因频率均高于对照组（14.62％ vs 8.85％，12.69％ vs 7.31％），而HLA-DQA1＊0101基因频率低于对照组（34.23％vs 43.08％），差异均有统计学意义（P＜0.05）。 Logistic回归分析显示，HLA-DQA1＊0101、HLA-DQA1＊0201和HLA-DQA1＊0601等位基因频率与尘肺病有关联（P＜0.05），优势比分别为0.688、1.764和1.844，95％可信区间分别为（0.482～0.981）、（1.018～3.055）和（1.019～3.336）。结论 HLA-DQA1＊0201和HLA-DQA1＊0601基因可能是尘肺病的易感基因，HLA-DQA1＊0101基因可能是尘肺病的保护基因。
