Xu Guihua, Gao Xiaoyu, Zhang Sainan, Wang Yan, Ding Mingjing, Liu Wenyan, Shen Jie, Sun Dejun
Department of Clinical Medical Research Center, Inner Mongolia Autonomous Region People's Hospital, Hohhot, Inner Mongolia 010017, China.
Department of Pulmonary and Critical Care Medicine, Inner Mongolia Autonomous Region People's Hospital, Hohhot, Inner Mongolia 010017, China.
Gene. 2017 Dec 30;637:50-56. doi: 10.1016/j.gene.2017.09.035. Epub 2017 Sep 20.
The contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. This study aimed to investigate the role of single nucleotide polymorphisms (SNPs) in HHIP on COPD susceptibility in the Chinese Mongolian and Han populations from Inner Mongolia autonomous region. In this case-control study, five SNPs in HHIP gene were detected in 700 COPD patients (350 Chinese Han and 350 Chinese Mongolian) and 700 healthy controls (350 Chinese Han and 350 Chinese Mongolian). The genotype, the association with COPD, and the differences between Chinese Han and Mongolian populations were evaluated using the chi-squared (χ) test, genetic models, and logistic analysis. The minor allele C in SNP rs10519717 was associated with COPD in Mongolian (Odds ration (OR)=1.401, 95% confidence interval (CI): 1.110-1.769, P=0.044); however, not in the Han. The CC genotype in SNP rs10519717 was a risk factor for COPD in Mongolian (OR=2.667, 95% CI: 1.479-4.809, P=0.044); however, the TC genotype in Han played the same role (OR=1.396, 95% CI: 1.018-1.915, P=0.044). The GG genotype in SNP rs13147758 was protective in the Han (OR=0.546, 95% CI: 0.332-0.897, P=0.017). The homozygote of the minor alleles in SNPs rs12504628, rs1828591, and rs13118928 had a protective role in the both of COPD populations. For the minor allele distribution, the differences between the Han and Mongolian were presented only in the case group for rs12504628 (P=0.003), rs13147758 (P=0.002), rs1828591 (P=0.001), and rs13118928 (P=0.002); for the genotypes, differences was presented at the frequency of the minor allele homozygote in rs13147758 (P=0.048), rs10519717 (P=0.027), rs1828591 (P=0.041), and rs13118928 (P=0.044) in Mongolian. Our findings suggested that HHIP rs10519717 might be associated with susceptibility of Mongolian COPD. For the other SNPs, the differences between the two populations were represented by minor allele distribution and frequency of the minor allele homozygotes.
风险等位基因对慢性阻塞性肺疾病（COPD）的影响在不同人群中可能存在差异。本研究旨在探讨内内蒙古自治区汉族和蒙古族人群中，刺猬索尼克信号通路抑制因子（HHIP）基因的单核苷酸多态性（SNP）对COPD易感性的作用。在这项病例对照研究中，对700例COPD患者（350名汉族和350名蒙古族）和700名健康对照者（350名汉族和350名蒙古族）检测了HHIP基因中的5个SNP。采用卡方（χ）检验、遗传模型和逻辑分析评估基因型、与COPD的关联以及汉族和蒙古族人群之间的差异。SNP rs10519717中的次要等位基因C与蒙古族的COPD相关（比值比（OR）=1.401，95%置信区间（CI）：1.110-1.769，P=0.044）；但在汉族中无此关联。SNP rs10519717中的CC基因型是蒙古族COPD的危险因素（OR=2.667，95%CI：1.479-4.809,P=0.044）；然而，汉族中的TC基因型起相同作用（OR=1.396，95%CI：1.018-1.915，P=0.044）。SNP rs13147758中的GG基因型对汉族具有保护作用（OR=0.546，95%CI：0.332-0.897，P=0.017）。SNP rs12504628、rs1828591和rs13118928中次要等位基因的纯合子对两个COPD人群均具有保护作用。对于次要等位基因分布，汉族和蒙古族之间的差异仅在rs12504628（P=0.003）、rs13147758（P=0.002）、rs1828591（P=0.001）和rs13118928（P=0.002）的病例组中呈现；对于基因型，在蒙古族中，rs13147758（P=0.048）、rs10519717（P=0.027）、rs1828591（P=0.041）和rs13118928（P=0.044）的次要等位基因纯合子频率存在差异。我们的研究结果表明，HHIP rs10519717可能与蒙古族COPD易感性相关。对于其他SNP，两个群体之间的差异通过次要等位基因分布和次要等位基因纯合子频率来体现。
