Abstract
T-box transcription factor protein (TBX21) is encoded by the TBX21 gene in human. It is crucial for naive T lymphocyte development, interferon-γ production, airway hyperresponsiveness and regulation of corticosteroid response in asthmatics. Polymorphisms rs4794067 and rs16947078 of TBX21 were found to be associated with acetylsalicylic acid-induced and allergic asthma, respectively. We examined whether sequence variants of TBX21 gene are associated with asthma and its severity in Indian population. In a hospital-based case–control study, 240 asthmatic children and 240 healthy controls were investigated for the association of TBX21 rs4794067 (C>T) and rs16947078 (G>A) polymorphisms with asthma and its severity using PCR-restriction fragment length polymorphism method. Heterozygous (CT) (odds ratio (OR)=2.33; P=0.001) and variant (TT) (OR=6.25; P=0.001) genotypes of rs4794067 were demonstrated significant risk of asthma. However, in asthma severity variant (TT) genotype revealed significant increase risk (intermittent: OR=5.9, P=0.001; mild: OR=8.0, P=0.001; moderate: OR=3.2, P=0.041; and severe: OR=43.6, P=0.001) in all subgroups. Furthermore, haplotypes TG (OR=2.83; P=0.001) and TA (OR=2.54; P=0.001) of TBX21 were associated with an increased risk of asthma. Conversely, rs16947078 G>A polymorphism was not associated with any asthma/asthma severity risk. These data suggest that TBX21 gene variation may modify individual's susceptibility to asthma and its severity in Indian population. However, further validation in large population-based studies is needed to confirm the finding.
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We are thankful to all the subjects who participated in the study.
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NS contributed in designing the experiments, data analyses, interpretation of data, and wrote the first draft. SA contributed in screening of subjects, statistical analysis. SRP, IJ, RKM contributed in study design and data analysis. SA, SRP finalized the manuscript.
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Sharma, N., Jaiswal, I., Mandal, R. et al. Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children. J Hum Genet 59, 437–443 (2014). https://doi.org/10.1038/jhg.2014.52
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DOI: https://doi.org/10.1038/jhg.2014.52
