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Purpose TIM1 is a key regulator of Th2-dominated immune responses, including allergy, asthma, autoimmunity, and response to the pathogens. They are mainly expressed by hepatocytes and lymphoid cells. Analysis of the sequence of TIM1 was found to have range of SNPs which increases the transcriptional activity of the TIM1 gene. Methods A case-control study was conducted with a total of 964 subjects, including 483 healthy controls and 481 asthma patients in the present study. DNA samples were extracted from blood, and genotyping was done using polymerase chain reaction-restriction fragment length polymorphism method. Results Statistical analysis revealed that both heterozygous (GA) as well as the mutant (AA) genotype of -1454G>A (rs41297579) polymorphism shows resistance toward asthma with OR = 0.74, 95% CI (0.55-0.98), p = 0.029 and OR = 0.43, 95% CI (0.28-0.65), p = 0.000, respectively. The mutant (A) allele was also found to be highly protective toward asthma with OR = 0.68, 95% CI (0.56-0.82) p = 0.000. However, no statistical difference was found between the TIM1-416G>C (rs9313422) polymorphism and asthma patients (p > 0.05). Conclusions This is the first study conducted in India conferring -1454G>A polymorphism provides resistance toward asthma while lack of association was found between -416G>C polymorphism and asthma in the studied North Indian population. Keywords Asthma * North India * TIM1 * Polymorphisms * PCR-RFLP * Total IgE, Introduction Inflammation is the pivotal cause of many lung diseases including asthma, cystic fibrosis, chronic bronchitis, and emphysema. Over the past few decades, asthma prevalence has increased considerably worldwide. In [...]

Purpose CHIT1 is expressed by pulmonary macrophages, which is typically the site of entry for many environmental fungi that may increase the risk of pulmonary fungal infection and lead to hypersensitivity. The conserved expression of this gene in humans suggests its physiological importance in the mammalian lung. Methods The present study was conducted with a total of 964 subjects, including 483 healthy controls and 481 asthma patients. DNA samples were extracted from blood, and the genotyping was done using polymerase chain reaction method. Results Statistical analysis revealed that the 24 bp duplication in CHIT1 gene polymorphism shows highly significant association in heterozygous (wild/dup) genotype with OR 1.74, 95 % CI (1.29-2.36), and p = 0.000. However, the homozygous mutant genotype (dup/dup) was found to be non-significant with OR 1.06, 95 % CI (0.69-1.63), and p = 0.786. The combination of both wild/dup and dup/dup was also found to be highly significant with OR 1.57, 95 % CI (1.18-2.11), and p = 0.002. Conclusions This is the first study conducted in India which reports a significant association between 24 bp duplication in CHIT1 gene polymorphism and asthma in the studied North Indian population., Author(s): Shweta Sinha[sup.1] , Jagtar Singh[sup.1] , Surinder Kumar Jindal[sup.2] , Niti Birbian[sup.1] , Neha Singla[sup.1] Author Affiliations: (1) Department of Biotechnology, Panjab University, Chandigarh, India (2) Department of Pulmonary [...]

Purpose: TIM1 is a key regulator of Th2-dominated immune responses, including allergy, asthma, autoimmunity, and response to the pathogens. They are mainly expressed by hepatocytes and lymphoid cells. Analysis of the sequence of TIM1 was found to have range of SNPs which increases the transcriptional activity of the TIM1 gene. Methods: A case-control study was conducted with a total of 964 subjects, including 483 healthy controls and 481 asthma patients in the present study. DNA samples were extracted from blood, and genotyping was done using polymerase chain reaction-restriction fragment length polymorphism method. Results: Statistical analysis revealed that both heterozygous (GA) as well as the mutant (AA) genotype of −1454G>A (rs41297579) polymorphism shows resistance toward asthma with OR = 0.74, 95 % CI (0.55-0.98), p = 0.029 and OR = 0.43, 95 % CI (0.28-0.65), p = 0.000, respectively. The mutant (A) allele was also found to be highly protective toward asthma with OR = 0.68, 95 % CI (0.56-0.82) p = 0.000. However, no statistical difference was found between the TIM1-416G>C (rs9313422) polymorphism and asthma patients ( p > 0.05). Conclusions: This is the first study conducted in India conferring −1454G>A polymorphism provides resistance toward asthma while lack of association was found between −416G>C polymorphism and asthma in the studied North Indian population. [ABSTRACT FROM AUTHOR]