Background： Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1 -antitrypsin （Alpha-1-AT） expression affects the occurrence and progression of chronic obstructive puh...Background： Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1 -antitrypsin （Alpha-1-AT） expression affects the occurrence and progression of chronic obstructive puh-nonary disease （COPD）. We aimed to explore the associations of rs9944155AG, rsl051052AG, and rs1243166AG polymorphisms in the A lpha-1-A T gene with the risk of COPD in Uygur population in the Kashgar region. Methods： From March 2013 to December 2015. a total of 225 Uygur COPD patients and 198 healthy people were recruited as cases and controls, respectively, in Kashgar region. DNA was extracted according to the protocol of the DNA genome kit, and Sequenom MassARRAY single-nucleotide polymorphism technology was used for genotype determination. Serum concentration of Alpha-1-AT was detected by enzyme-linked immunosorbent assay. A logistic regression model was used to estimate the associations of polymorphisms with COPD. Results： The rs1243166-G allele was associated with a higher risk of COPD （odds ratio [OR] = 2.039, 95% confidence interval [CI]： 1.116-3.725, P = 0.019）. In cases, Alpha-1-AT levels were the highest among participants can-yiug rs1243166 AG genotype, followed by AA and GG genotype （χ2 = 11.89, P = 0.003）. Similarly, the rs1051052-G allele was associated with a higher risk of COPD （OR = 19.433, 95% CI： 8.783-43.00, P 〈 0.001）. The highest Alpha-1-ATlevels were observed in cases carrying rs1051052 AA genotype, followed by cases with AG and GG genotypes （χ2= 122.45, P 〈 0.001）. However, individuals with rs9944155-G allele exhibited a lower risk of COPD than those carrying the rs9944155-A allele （OR = 0.121, 95% CI： 0.070-0.209, P 〈 0.001 ）. in both cases and controls, no significant difference in Alpha-l-AT levels was observed among various rs9944115 genotypes. Conclusions： rs 1243166, rs9944155, and rs 1051052 sites of Alpha- I-A Tmay be associated with the COPD morbidity in Uygur population. While rs 1243166-G allele and rs1051052-G allele展开更多
目的研究GIRK4基因多态性与新疆南疆地区维吾尔族人群原发性高血压的相关性。方法采取病例一对照研究方法，筛选1194名体重指数（body mass index，BMI）〉18．5kg／m。的人群，按高血压诊断标准，将收缩压≥140mmHg和（或）舒张压≥90m...目的研究GIRK4基因多态性与新疆南疆地区维吾尔族人群原发性高血压的相关性。方法采取病例一对照研究方法，筛选1194名体重指数（body mass index，BMI）〉18．5kg／m。的人群，按高血压诊断标准，将收缩压≥140mmHg和（或）舒张压≥90mmHg作为高血压组（482例），收缩压≤140mmHg和（或）舒张压≤90mmHg作为正常组（712人），其中男性461人，女性733人。提取两组血样的基因组DNA，PCR扩增GIRK4基因并测序。结果通过对GIRK4基因测序，在上述人群中发现171C／T（rs6590357）、5126A／G（rs4937391）、6262A／C（rs2604204）、-20559C／G（rs11221497）等4个多态位点，其基因型分布均符合Hard—Weinberg平衡（P〉0．05）。连锁不平衡分析显示，rs11221497位点与rs4937391、rs2604204、rs6590357位点之间位点存在连锁不平衡（D’〈0．001），后3个位点之间连锁平衡（D’〉0．9）；rs6590357、rs4937391、rs2604204等3个位点的基因型在高血压组和对照组间的频率分布差异无统计学意义（P〉0．05）；rs11221497位点CC基因型平均收缩压[（132．69±26．9）mmHg）]高于CG基因型[（127．4±22．7）mmHg]及GG基因型[（121．1±26．3）mmHg]；CC基因型舒张压[（79．4±15．6）mmHg]也高于CG基因型[（77．1±14．1）mmHg]和GG基因型[（72．9±14．8）mmHg]，其中CC型与GG型间平均收缩压及舒张压差异有统计学意义（P〈0．05）；基因频率分析显性模型显示rs11221497位点CC基因型在高血压组分布频率高于正常组，两组间比较差异有统计学意义[P〈0．05，OR-0．67（0．49～0．93）]；Logistic回归分析显示，在校正吸烟、年龄、BMI后，rs11221497位点与新疆维吾尔族肥胖人群高血压相关。单倍型分析发现,H6单倍型（C—G-C-G）在正常组中分布明显高于高血压组，差异有统计学意义（P〈0．05），是其保护性因子。结论GIRK4基因rs11221497位点可能和新疆�展开更多
文摘Background： Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1 -antitrypsin （Alpha-1-AT） expression affects the occurrence and progression of chronic obstructive puh-nonary disease （COPD）. We aimed to explore the associations of rs9944155AG, rsl051052AG, and rs1243166AG polymorphisms in the A lpha-1-A T gene with the risk of COPD in Uygur population in the Kashgar region. Methods： From March 2013 to December 2015. a total of 225 Uygur COPD patients and 198 healthy people were recruited as cases and controls, respectively, in Kashgar region. DNA was extracted according to the protocol of the DNA genome kit, and Sequenom MassARRAY single-nucleotide polymorphism technology was used for genotype determination. Serum concentration of Alpha-1-AT was detected by enzyme-linked immunosorbent assay. A logistic regression model was used to estimate the associations of polymorphisms with COPD. Results： The rs1243166-G allele was associated with a higher risk of COPD （odds ratio [OR] = 2.039, 95% confidence interval [CI]： 1.116-3.725, P = 0.019）. In cases, Alpha-1-AT levels were the highest among participants can-yiug rs1243166 AG genotype, followed by AA and GG genotype （χ2 = 11.89, P = 0.003）. Similarly, the rs1051052-G allele was associated with a higher risk of COPD （OR = 19.433, 95% CI： 8.783-43.00, P 〈 0.001）. The highest Alpha-1-ATlevels were observed in cases carrying rs1051052 AA genotype, followed by cases with AG and GG genotypes （χ2= 122.45, P 〈 0.001）. However, individuals with rs9944155-G allele exhibited a lower risk of COPD than those carrying the rs9944155-A allele （OR = 0.121, 95% CI： 0.070-0.209, P 〈 0.001 ）. in both cases and controls, no significant difference in Alpha-l-AT levels was observed among various rs9944115 genotypes. Conclusions： rs 1243166, rs9944155, and rs 1051052 sites of Alpha- I-A Tmay be associated with the COPD morbidity in Uygur population. While rs 1243166-G allele and rs1051052-G allele
文摘目的研究GIRK4基因多态性与新疆南疆地区维吾尔族人群原发性高血压的相关性。方法采取病例一对照研究方法，筛选1194名体重指数（body mass index，BMI）〉18．5kg／m。的人群，按高血压诊断标准，将收缩压≥140mmHg和（或）舒张压≥90mmHg作为高血压组（482例），收缩压≤140mmHg和（或）舒张压≤90mmHg作为正常组（712人），其中男性461人，女性733人。提取两组血样的基因组DNA，PCR扩增GIRK4基因并测序。结果通过对GIRK4基因测序，在上述人群中发现171C／T（rs6590357）、5126A／G（rs4937391）、6262A／C（rs2604204）、-20559C／G（rs11221497）等4个多态位点，其基因型分布均符合Hard—Weinberg平衡（P〉0．05）。连锁不平衡分析显示，rs11221497位点与rs4937391、rs2604204、rs6590357位点之间位点存在连锁不平衡（D’〈0．001），后3个位点之间连锁平衡（D’〉0．9）；rs6590357、rs4937391、rs2604204等3个位点的基因型在高血压组和对照组间的频率分布差异无统计学意义（P〉0．05）；rs11221497位点CC基因型平均收缩压[（132．69±26．9）mmHg）]高于CG基因型[（127．4±22．7）mmHg]及GG基因型[（121．1±26．3）mmHg]；CC基因型舒张压[（79．4±15．6）mmHg]也高于CG基因型[（77．1±14．1）mmHg]和GG基因型[（72．9±14．8）mmHg]，其中CC型与GG型间平均收缩压及舒张压差异有统计学意义（P〈0．05）；基因频率分析显性模型显示rs11221497位点CC基因型在高血压组分布频率高于正常组，两组间比较差异有统计学意义[P〈0．05，OR-0．67（0．49～0．93）]；Logistic回归分析显示，在校正吸烟、年龄、BMI后，rs11221497位点与新疆维吾尔族肥胖人群高血压相关。单倍型分析发现,H6单倍型（C—G-C-G）在正常组中分布明显高于高血压组，差异有统计学意义（P〈0．05），是其保护性因子。结论GIRK4基因rs11221497位点可能和新疆�
