Ding Yipeng, Niu Huan, Li Yizhou, He Ping, Li Quanni, Ouyang Yanhong, Li Min, Hu Zhigao, Zhong Youqing, Sun Pei, Jin Tianbo
Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan 570311,People's Republic of China;
J Genet. 2016 Mar;95(1):151-6. doi: 10.1007/s12041-016-0627-0.
In this study, we examined and validated how common variants contribute to susceptibility to chronic obstructive pulmonary disease (COPD) in the Han Chinese population. Here, we genotyped 18 nucleotide polymorphisms and evaluated their association with COPD using chi-square test and genetic model analysis (246 COPD patients and 350 controls), and found three SNPs that might cause a predisposition to COPD. Both rs3025030 and rs3025033 are located on chromosome 6 in VEGF-A. We found one risk allele 'C' from rs3025030 and another 'G' from rs3025033 using the log-additive model (OR 1.40; 95% CI 1.05-5.96; P = 0.022), (OR 1.38; 95% CI 1.03-1.84; P = 0.03). We also found another risk allele 'A' of rs9296092 in gene region ZBTB9-BAK1 by the allele model (OR 2.63; 95% CI 1.27-5.45; P = 0.0078), (adjusted OR 3.53; 95% CI 1.12-11.11; P = 0.031).We found a risk haplotype 'CG' associated with the risk of COPD (OR 1.39; 95% CI 1.04-1.86; P = 0.028). Our results when compared with previous studies showed significant association between VEGF-A polymorphism and COPD. We also identified rs9296092 as a risk factor for COPD.
在本研究中,我们检测并验证了常见变异如何影响汉族人群患慢性阻塞性肺疾病(COPD)的易感性。在此,我们对18个单核苷酸多态性进行了基因分型,并使用卡方检验和遗传模型分析评估它们与COPD的关联(246例COPD患者和350例对照),发现了三个可能导致COPD易感性的单核苷酸多态性。rs3025030和rs3025033均位于6号染色体上的VEGF - A基因中。使用对数加性模型,我们发现rs3025030的一个风险等位基因“C”以及rs3025033的另一个风险等位基因“G”(OR 1.40;95% CI 1.05 - 5.96;P = 0.022),(OR 1.38;95% CI 1.03 - 1.84;P = 0.03)。通过等位基因模型,我们还在基因区域ZBTB9 - BAK1中发现了rs9296092的另一个风险等位基因“A”(OR 2.63;95% CI 1.27 - 5.45;P = 0.0078),(校正OR 3.53;95% CI 1.12 - 11.11;P = 0.031)。我们发现一个与COPD风险相关的风险单倍型“CG”(OR 1.39;95% CI 1.04 - 1.86;P = 0.028)。与先前研究相比,我们的结果显示VEGF - A基因多态性与COPD之间存在显著关联。我们还确定rs9296092是COPD的一个风险因素。