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

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Guo Chen ◽  
Miao-Miao Zhang ◽  
Yu Wang ◽  
Shou-Quan Wu ◽  
Ming-Gui Wang ◽  
...  

Abstract 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.

Tumor Biology ◽  
2015 ◽  
Vol 36 (2) ◽  
pp. 461-466 ◽  
Author(s):  
Chang-Jiang Qin ◽  
Kai-Wu Xu ◽  
Zhi-Hui Chen ◽  
Er-Tao Zhai ◽  
Yu-Long He ◽  
...  

PLoS ONE ◽  
2013 ◽  
Vol 8 (3) ◽  
pp. e59495 ◽  
Author(s):  
Haoying Dou ◽  
Enting Ma ◽  
Liqun Yin ◽  
Yinghui Jin ◽  
Hongwu Wang

2021 ◽  
Vol 8 ◽  
Author(s):  
Weixi Liu ◽  
Zhicheng Yang ◽  
Yan Chen ◽  
Haoyu Yang ◽  
Xiaoxian Wan ◽  
...  

Background: Rheumatoid arthritis (RA) is related to several pivotal susceptibility genes, including cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and costimulatory molecule (CD80/CD86) genes. Although the connection between polymorphisms of CTLA-4 and CD86 genes in different populations of RA have been studied extensively, the results are controversial.Objective: To clarify the correlation in the Chinese Han population between CTLA-4, CD80/86, and CD28 gene polymorphisms, and RA susceptibility.Methods: A case-control study (574 RA patients and 804 controls) was conducted to determine the correlation between CTLA-4 rs231775 and rs16840252 gene polymorphisms, CD86 rs17281995 gene polymorphisms, and the risk of RA for the Chinese Han population. Furthermore, an additional meta-analysis, including three single nucleotide polymorphisms (SNPs) (CTLA-4 rs231775, CTLA-4 rs3087243, and CTLA-4 rs5742909) from 32 citations, including 43 studies, 24,703 cases and 23,825 controls was performed to elucidate the relationship between known SNPs in the CTLA-4 genes and RA for more robust conclusions.Results: The results showed that CTLA-4 rs231775 gene polymorphism decreased the RA risk (GA vs. AA, OR = 0.77, P = 0.025), whereas CTLA-4 rs16840252 and CD86 rs17281995 gene polymorphisms were not related to RA susceptibility. Stratification analyses by RF, ACPA, CRP, ESR, DAS28, and functional class identified significant associations for CTLA-4 rs231775 and rs16840252 gene polymorphisms in the RF-positive and RF-negative groups. A meta-analysis of the literature on CTLA-4 gene polymorphisms and RA risk revealed that the risk of RA was decreased by CTLA-4 rs231775 gene polymorphisms.Conclusions: The CTLA-4 rs231775 gene polymorphism decreased the risk of RA, whereas CTLA-4 rs16840252 and CD86 rs17281995 gene polymorphisms were not related to RA risk. A meta-analysis indicated that CTLA-4 rs231775 and rs3087243 gene polymorphisms decreased the risk of RA. To support these analytical results, additional clinical cases should be investigated in further studies.


2011 ◽  
Vol 26 (8) ◽  
pp. 627-630 ◽  
Author(s):  
Jian-Fang Ma ◽  
Li-hua Liu ◽  
Yu Zhang ◽  
Ying Wang ◽  
Yu-Lei Deng ◽  
...  

Objective: We conducted a case–control study to investigate whether clusterin polymorphism (rs11136000) was associated with late-onset Alzheimer’s disease in Chinese Han population. Methods: Polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) assay was performed on genotype rs11136000 and APOEε4 in 127 patients with late-onset Alzheimer’s disease and 143 control individuals. Previous published data from other Chinese samples was also included for further meta-analysis. Results: APOEε4 was demonstrated to increase the risk of Alzheimer’s disease in Chinese population (odds ratio = 2.35, 95% confidence interval: 1.40-3.96). There is no significant association between clusterin rs11136000 with late-onset sporadic AD in our small cohort. However, meta-analysis revealed significant allele and genotype differences between Alzheimer’s disease and controls following a recessive model. Conclusion: Clusterin (rs11136000) was associated with Alzheimer’s disease in Chinese Han population.


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