title: Association of transforming growth factor-Beta 1 promoter variant -509 c/t with bronchial asthma in South Indian population.
abstract: Transforming growth factor-beta 1 (TGF-β1) is a multifunctional cytokine that plays a pivotal role in airway remodeling observed in the asthmatic airways. C to T base substitution at -509 promoter position in the TGF-β1 gene leads to its increased expression which contributes to airway remodeling in bronchial asthma. We sought to evaluate the association of TGF-β1 -509 C/T promoter variant with clinical asthma and varying degrees of disease severity. Three hundred and eighty-two clinically diagnosed asthma patients and 410 healthy controls were enrolled for the study. Patients were classified into severity classes according to the Global Initiative for Asthma (GINA) guidelines. TGF-β1 -509 C/T genotyping was carried out by amplification refractory mutation system polymerase chain reaction (ARMS-PCR) technique. In the present study, we found significantly higher frequency of TT genotype in asthma patients compared to controls (for TT vs. CC, p = 0.020). In addition, a significant difference was observed in the frequency of C and T allele in patients and controls (for T vs. C, p = 0.029). The heterozygous "CT" genotype was higher in moderate and severe asthmatics compared to mild subset of patients (for mild vs. moderate, p = 0.037). However, there was no significant distribution and association of variant allele with the severity subsets.
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, 500016, India, srinivasgen08@gmail.com.
authors.forename: Srinivas
authors.initials: S
authors.lastname: Bandaru
authors.forename: Vijaya Kumar
authors.initials: VK
authors.lastname: Marri
authors.forename: Jyothy
authors.initials: J
authors.lastname: Akka
authors.forename: Mallika
authors.initials: M
authors.lastname: Alvala
authors.forename: Hema Prasad
authors.initials: HP
authors.lastname: Mundluru
mesh_terms: D000328:Adult; D001249:Asthma / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D011159:Population Surveillance; D011401:Promoter Regions, Genetic / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1