Identification of IL13 C1923T as a Single Nucleotide Polymorphism for Asthma in Children from Mauritius

Ramphul, Kamleshun; Li, Hua; Bao, Yi; Li, Jing Yang; Liu, Quan Hua; Ji, Ruo Xu; Fang, Ding Zhu

doi:10.1089/ped.2014.0464

Cited by 13 publications

(12 citation statements)

References 26 publications

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“…In total, 363 articles were identified through the initial search of databases. After a systematical literature search based on the inclusion criteria, 10 case-control studies from 8 published articles containing 1858 cases and 1778 controls were identified for this meta-analysis to investigate the relations of CHI3L1 and CHIA variants with asthma risk [ 7 , 8 , 18 , 20 – 24 ]. Among the selected studies, 5 studies in 4 eligible publications [ 7 , 18 , 20 , 21 ] were conducted for evaluating CHI3L1 rs4950928 polymorphism with a total of 1062 cases and 1034 controls enrolled; 5 studies containing 796 cases and 744 controls were performed for investigating CHIA rs10494132 polymorphism in 4 published articles [ 8 , 22 – 24 ].…”

Section: Resultsmentioning

confidence: 99%

“…For CHI3L1 rs4950928 polymorphism, 3 studies [ 7 , 18 ] were carried out among Caucasians, 1 study [ 21 ] was conducted in Asians and another one [ 20 ] was conducted in African subjects in terms of ethnicity. 3 studies on the CHI3L1 rs4950928 polymorphism were conducted in children [ 18 , 20 , 21 ]. Only 1 study was performed in adults [ 7 ] and the rest was performed in mixture [ 18 ].…”

Section: Resultsmentioning

confidence: 99%

“…In addition, Genetic studies have demonstrated that the polymorphic variants of CHI3L1 gene contribute to the pathogenesis of asthma through influencing on airway inflammation and airway remodeling in the asthmatic patients [ 15 , 26 ]. Recently, the relationship between CHI3L1 rs4950928 polymorphism and susceptibility to asthma was increasingly investigated [ 7 , 18 , 20 , 21 ]. A Genome-wide Association Study (GWAS) reported by Ober et al identified that the G allele of CHI3L1 rs4950928 is protective against asthma in three populations of European ancestry with mild asthma [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…Another study have demonstrated that an association between CHI3L1 rs4950928 polymorphism and asthma is found, although the risk allele was opposite of that reported by Ober [ 21 ]. In contrast, additional publications have shown no significant association between genetic variation in the CHI3L1 rs4950928 and asthma risk [ 7 , 20 ]. To date, the effect of genetic variation in CHI3L1 on asthma risk has not been fully addressed.…”

Section: Discussionmentioning

confidence: 99%

“…Although several genetic studies have reported the correlation between CHI3L1 rs4950928 polymorphism or CHIA rs10494132 variant and the risk of asthma [ 7 , 8 , 18 , 20 ], these results were controversial and inconclusive since they are performed in an individual medical center with small sample size and in different ethnicities. Therefore, it is important to perform a meta-analysis of all eligible studies to clarify the effects of CHI3L1 rs4950928 polymorphism and CHIA rs10494132 variant on risk of asthma.…”

Section: Introductionmentioning

confidence: 99%

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Association between risk of asthma and gene polymorphisms in CHI3L1 and CHIA: a systematic meta-analysis

et al. 2017

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BackgroundPrevious studies have indicated that chitinase 3-like 1 (CHI3L1) gene rs4950928 polymorphism and acidic mammalian chitinase (AMCase or CHIA) gene rs10494132 polymorphism are associated with the risk of asthma. However, the results are inconsistent because of small sample size and varied ethnicity and age in studies. Therefore, a systematic meta-analysis was important to clarify the effect of CHI3L1 rs4950928 polymorphism and CHIA rs10494132 variant on asthma risk.MethodsAn electronic literature search was conducted to identify all the eligible studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated and sensitivity analysis as well as publication bias were assessed to investigate the associations. All statistical analyses were performed using STATA 12.0.ResultsEight published articles with 10 case-control studies were included, 5 studies were of CHI3L1 rs4950928 polymorphism and another 5 studies involved CHIA rs10494132 polymorphism. Overall, no significant association was found between CHI3L1 polymorphism and asthma susceptibility. After stratified according to ethnicity, CHI3L1 rs4950928 variant was associated with decreased asthma risk in Caucasians (GG + GC vs. CC: OR = 0.621, 95% CI = 0.484–0.797, P = 0.000; GC vs. CC: OR = 0.612, 95% CI = 0.470–0.796, P = 0.000; G vs. C: OR = 0.696, 95% CI = 0.567–0.856, P = 0.001). When stratified population by age, there was no association in children under all genetic models. As for CHIA rs10494132 polymorphism, no evidence of association between CHIA rs10494132 polymorphism and asthma risk was identified. Furthermore, subgroup analysis by ethnicity revealed a positive correlation between CHIA rs10494132 polymorphism and asthma risk among Asians (TT vs. TC + CC: OR = 1.476, 95% CI = 1.071–2.032, P = 0.017; T vs. C: OR = 1.326, 95% CI = 1.024–1.717, P = 0.032). Additionally, in the subgroup analysis conducted according to age, CHIA rs10494132 variant was also found to be associated with the increased risk of asthma in children (TT vs. TC + CC: OR = 1.472, 95% CI = 1.067–2.030, P = 0.019; T vs. C: OR = 1.320, 95% CI = 1.016–1.713, P = 0.037).ConclusionsThe G allele of CHI3L1 rs4950928 might be a protective factor against the development of asthma. However, the rs10494132 polymorphism of CHIA might be a risk factor for asthma.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Association between risk of asthma and gene polymorphisms in CHI3L1 and CHIA: a systematic meta-analysis

et al. 2017

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Association between IL-13 +1923C/T polymorphism and asthma risk: a meta-analysis based on 26 case-control studies

Ding

et al. 2017

Bioscience Reports

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Asthma is a serious and hereditary respiratory disorder affecting all age groups. Interleukin-13 (IL-13) is a central regulator of allergic inflammation. The purpose of the present study was to estimate the relationship between IL-13 +1923C/T polymorphism and asthma susceptibility. Relevant case-control studies published between January 2000 and July 2016 were searched in the online databases. Review Manage (RevMan) 5.3 was used to conduct the statistical analysis. The pooled odds ratio (OR) with its 95% confidence interval (CI) was employed to calculate the strength of association. A total of 26 articles were retrieved, including 17642 asthma patients and 42402 controls. Overall, our results found that IL-13 +1923C/T polymorphism was significantly associated with increased risk of asthma under each genetic model (P<0.00001). Subgroup analysis by ethnicity showed that alleles and genotypes of this variant correlated with asthma among Asians and Caucasians, but only TT genotype under the homozygote model in Africans. When stratified by age group, this variant highly correlated with asthma in children and moderately in adults. Furthermore, the TT, CT and CC genotypes in asthma group were all significantly associated with increased IgE levels in sera of asthma patients when compared with controls. Our results suggested that IL-13 +1923C/T polymorphism contributed to the development of asthma. Further case-control studies with more ethnicities are still needed.

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Functional study of the association of CHI3L1 polymorphisms with asthma susceptibility in the Southwest Chinese Han population

et al. 2019

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Background: Chitinase 3-like 1 (CHI3L1) is involved in the Th2 cell mediated pathway, tissue remodeling and fibrosis. Correlations of CHI3L1 gene polymorphisms with asthma in previous studies have been inconsistent. The present study was designed to investigate the association between CHI3L1 polymorphisms and asthma in the southwest Chinese Han population. Methods: Two single nucleotide polymorphisms (SNPs), rs4950928 and rs10399931, were genotyped in 410 asthma patients and 418 healthy controls from Southwest China. Dual-luciferase reporter gene analysis was performed to detect allele-dependent promoter activity of CHI3L1 variants in HEK293 cells. Real-time quantitative PCR was applied to detect the relative mRNA expression associated with different genotypes of CHI3L1 rs10399931. A meta-analysis was performed using data collected from previously published reports and the present study. Results: No significant association was found between rs4950928 and asthma. The rs10399931 CT/TT genotype increased the risk of asthma under the dominant model (P = 0.031, OR = 1.428, 95% CI, 1.033–1.974), while the CT genotype showed the same tendency under the heterozygous model (P = 0.003, OR = 1.680, 95% CI, 1.186–2.380). No statistically significant difference was found between alleles T and C of rs10399931in the dual-luciferase reporter gene analysis (P = 0.201). The rs10399931 CT/TT genotypes reduced the relative mRNA expression detected by real-time quantitative PCR (P = 0.002). There was no significant association between the CHI3L1 rs4950928 polymorphism and the risk of asthma in the meta-analysis. Conclusion: In the southwest Chinese Han population, the CHI3L1 rs10399931 CT/TT genotypes may increase the risk of asthma. rs10399931 may be a functional variant of CHI3L1 due to its effect on mRNA expression.

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Identification of IL13 C1923T as a Single Nucleotide Polymorphism for Asthma in Children from Mauritius

Cited by 13 publications

References 26 publications

Association between risk of asthma and gene polymorphisms in CHI3L1 and CHIA: a systematic meta-analysis

Association between risk of asthma and gene polymorphisms in CHI3L1 and CHIA: a systematic meta-analysis

Association between IL-13 +1923C/T polymorphism and asthma risk: a meta-analysis based on 26 case-control studies

Functional study of the association of CHI3L1 polymorphisms with asthma susceptibility in the Southwest Chinese Han population

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