Silva Vicente, Canals Andrea, Cifuentes Lucia
Faculty of Medicine, University of Chile, Santiago 8380453, Chile.
Biostatistics Program, School of Public Health, Faculty of Medicine, Santiago 8380453, Chile.
J Pers Med. 2025 Mar 31;15(4):137. doi: 10.3390/jpm15040137.
: Chronic Obstructive Pulmonary Disease (COPD) is one of the most common chronic non-communicable diseases in adults. The most critical risk factors are tobacco and air pollution. The familial aggregation of this disease and the fact that only 15-20% of smokers develop COPD demonstrate the existence of an individual susceptibility that would depend on genetic factors. The already-known susceptibility genomic variants explain only about 38% of the heritability of COPD. The present work analyzes the relationship between the percentage of Amerindian genomic ancestry of Chileans with morbidity and mortality of Chronic Obstructive Pulmonary Disease (COPD), adjusting for socioeconomic and environmental variables. We rely on the estimates of genomic ancestry percentages obtained in the Chilegenomico project in urban Chileans from 39 communes along eight regions of the country from north to south. From the public databases of the Departamento de Estadísticas e Información en Salud (DEIS) of the Chilean Ministry of Health, we obtained mortality rates and hospital discharge rates. We incorporated adjustment variables (communal data) obtained from other public databases. We performed correlation analyses and fitted negative binomial regression models to examine the association between Amerindian ancestries and COPD statistics. A positive and significant association between Mapuche ancestry and hospital discharge and mortality rates for COPD was found in both simple and multiple analyses. In contrast, we found a negative and significant association between the percentage of Aymara genomic ancestry and COPD mortality rates. The levels of Mapuche and Aymara genomic ancestries have different and contrasting significant associations with COPD susceptibility and mortality in the Chilean mixed population.
慢性阻塞性肺疾病(COPD)是成年人中最常见的慢性非传染性疾病之一。最关键的风险因素是烟草和空气污染。这种疾病的家族聚集性以及只有15%至20%的吸烟者会患COPD这一事实表明,存在一种个体易感性,其可能取决于遗传因素。已知的易感性基因组变异仅解释了COPD遗传度的约38%。本研究分析了智利人美洲印第安人基因组血统百分比与慢性阻塞性肺疾病(COPD)发病率和死亡率之间的关系,并对社会经济和环境变量进行了调整。我们依据智利基因组计划中从该国北部到南部八个地区39个公社的城市智利人所获得的基因组血统百分比估计值。从智利卫生部统计与健康信息部(DEIS)的公共数据库中,我们获取了死亡率和医院出院率。我们纳入了从其他公共数据库获得的调整变量(社区数据)。我们进行了相关性分析,并拟合了负二项回归模型,以检验美洲印第安人血统与COPD统计数据之间的关联。在单因素和多因素分析中,均发现马普切人血统与COPD的医院出院率和死亡率之间存在显著正相关。相比之下,我们发现艾马拉人基因组血统百分比与COPD死亡率之间存在显著负相关。在智利的混合人群中,马普切人和艾马拉人基因组血统水平与COPD易感性和死亡率有着不同且相反的显著关联。