Chitinase 3‐like 1 polymorphisms and risk of chronic obstructive pulmonary disease and asthma in a Chinese population

Abstract

Background Chitinase 3‐like 1 (CHI3L1) plays an important role in airway inflammation and tissue remodeling; however, its pathogenic role in lung diseases remains unclear. In the present study, we investigated whether CHI3L1 polymorphisms are associated with the risk of chronic obstructive pulmonary disease (COPD) and asthma in a Chinese population. Methods We detected seven single nucleotide polymorphisms in CHI3L1 among 361 patients and 527 age‐ and sex‐matched control subjects. We analysed genotype and allele distributions using Stata software (StataCorp,CollegeStation,TX,USA). We used haplotype disease analysis and haplotype phenotype analysis to assess the relationship between seven polymorphisms and the risk of COPD and asthma. Results The results showed significant differences between controls and patients with COPD/asthma in the genotype distributions of the polymorphism rs4950928. Additionally, significant differences were observed in the genotype and allele distributions of rs10399805 and rs10399931 between COPD patients and controls. Moreover, the frequencies of haplotype G‐G‐T‐G‐T‐C‐G, G‐G‐T‐G‐T‐C‐C and G‐A‐T‐G‐T‐C‐G (alleles of rs12141494, rs7542294, rs880633, rs10399805, rs10399931, rs946261 and rs4950928, respectively) were significantly higher in patients with COPD. Consideration of the haplotypes of these seven single nucleotide polymorphisms in CHI3L1 in asthma patients revealed a significant association with homocysteine levels (p < 0.001). Conclusions Our findings suggest that the CHI3L1 polymorphisms rs4950928, rs10399805 and rs10399931 can be used as genetic markers for predicting COPD and asthma risk in the Chinese population.

Assessment of the Association between Genetic Polymorphisms in the <b><i>CHI3L1</i></b> Gene and Asthma Risk

“…Pooling the results from these 17 studies indicated a positive association between CHI3L1 rs4950928 and asthma risk under recessive and homozygote models (GG vs. CG + CC: OR = 1.35, 95% CI: 1.12-1.65, p = 0.003; GG vs. CC: OR = 1.39, 95% CI: 1.12-1.72, p = 0.003). Genotypes were in the Hardy-Weinberg equilibrium in all controls groups, except in the study by Yu et al [24]. After excluding this study, the association remained significant (Table 2).…”

“…After screening of the titles and abstracts, we selected 23 papers for full-text assessment; 7 papers were excluded. In total, we included 16 publications with 18 studies involving 5,005 asthma patients and 9,725 controls in this meta-analysis [9][10][11][14][15][16][17][18][19][20][21][22][23][24][25][26]. Of these studies, 11 studies focused on East-Asian subjects, 5 on European subjects, 1 on South-Asian subjects, and 1 on subjects of mixed race.…”

Polymorphisms in the FCER2 gene have associations with asthma and chronic obstructive pulmonary disease

“…Previous studies have reported that AHR led to chronic COPD-associated respiratory symptoms and worse lung function in COPD (15,16), while IgE correlated with development, exacerbations, and lung function decline (17,18). Importantly, several single nucleotide polymorphisms (SNPs) of specific genes were reported to be associated with both asthma and COPD, including CHI3L1, CHIT1, IL-13, ADAM33, MMP12, and others (19)(20)(21)(22)(23)(24)(25). Besides, Hayden and colleagues suggested that childhood asthma was associated with a higher risk for COPD, while the known childhood asthma loci like IL1RL1, IL13, and GSDMB, correlated with COPD (26).…”

Genetic Variants, Circulating Level of MCP1 with Risk of Chronic Obstructive Pulmonary Disease: A Case-Control Study

“…3 Many endogenous factors including inflammatory processes and genetic predisposition, and exogenous factors including smoking and air pollution, were involved in the pathogenesis of COPD. 4 Chemokines, small heparin-binding proteins that direct the movement of circulating leukocytes towards sites of inflammation, were tightly involved in all stages of COPD evolution, including chronic inflammation and bronchial remodeling. [5][6][7] One of the best characterized chemokines, monocyte chemoattractant protein-1 (MCP1; also known as chemokine ligand (C-C motif) 2; CCL2), has been implicated to play an important role in the inflammatory response during various pathological processes.…”

“… 3 Many endogenous factors including inflammatory processes and genetic predisposition, and exogenous factors including smoking and air pollution, were involved in the pathogenesis of COPD. 4 …”