Abstract
Chronic Obstructive Pulmonary Disease (COPD) is a complex disease with varying susceptibility. COPD development may be associated with copy number variation (CNV) in susceptible genomic regions. CNV also contributes to COPD heritability as these can cause changes in DNA fragment. CNVs in COPD smokers and COPD ex-smokers have not been examined so far. Thus, genome-wide array based comparative genomic hybridization (aCGH) was performed in COPD (n = 15) and control subjects (n = 13) to identify the vulnerable candidate genes for genetic susceptibility and CNVs in smoker (n = 6) and ex-smoker (n = 9) COPD and compare it with control subjects to identify the candidate genes potentially involved in the pathogenesis of COPD. Copy number gains and losses were detected in several chromosomal regions.
 Chromosomal regions found to be consistently associated with both subgroups of COPD, as well as, of control group were: 2p11.2, 4q13.2, 8p23.1, 8p11.22, 12p13.31 and 14q32.33. Chromosomal regions associated with COPD were 11p15.5, 15q11.1-q11.2 and Xq28, which had several genes, (viz., CHECK2P2, HERC2P3, GOLGA6L6 and GOLGA8CP) which were associated with COPD smokers, while several other genes (viz., LICAM, LCA10, AVPR2, GDI1, HOTS and H19) were found to be associated with COPD ex-smokers. These loci and genes may be explored further for their potential use as predictive markers and better understanding of pathophysiology of COPD.
Highlights
Chronic obstructive pulmonary disease (COPD) is a chronic respiratory disorder characterised by an obstructive ventilation pattern
We found copy loss of mainly four genes (CHECK2P2, HERC2P3, GOLGA6L6 and GOLGA8CP) at chromosome 15q11.1-q11.2 in all the samples of COPD smokers implicating that these genes might have roles to play in the pathogenesis of COPD
High throughput genome-wide profiling using array CGH has provided an understanding of the nature of genetic susceptibility towards COPD in individuals exposed to cigarette smoke and helped in identification of the putative candidate genes which might be involved in the pathogenesis of COPD
Summary
Chronic obstructive pulmonary disease (COPD) is a chronic respiratory disorder characterised by an obstructive ventilation pattern. COPD is rarely reversible and can lead to chronic respiratory failure [1]. From 1990 to 2015 the prevalence of COPD has increased by about 44%, and more than 3 million people died from COPD world-wide in 2015, an increase by about 12% compared with 1990 data [2]. Even though cigarette smoking is the major known environmental risk factor for COPD, a large proportion of patients with COPD worldwide are nonsmokers [5] suggesting that other factors like genetic and other environmental factors play important role in the etiopathogenesis of COPD. Epidemiological data indicate potential role of genetic factors as it is observed that COPD cases aggregate in families [6]–[8].
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