GENETIC VARIANTS OF HUMAN TRANSFORMING GROWTH FACTOR BETAL (TGF BETA1) AND PREDICTION OF SUSCEPTIBILITY FOR IMMUNOLOGICAL DISORDERS

摘要

Asthma is a chronic lung disorder characterized by inflammation as a result of complex interactions between cells, their mediators and tissues in the airways. Various genetic and environmental factors are known to affect the disease process. Of the genetic factors, human Transforming Growth Factor Betal (TGFβ1) is an important candidate gene for causation of susceptibility and/or pathogenesis. TGFβ1 Plays a dual role. On one hand, where it suppresses inflammation and decreases airway hyper reactivity in lungs, it also has a pro-inflammatory role where as it is one of the mediators involved in subepithelial fibrosis, which is a fundamental feature of the remodeled airway in chronic asthmatics. The present invention relates to allelic variants of the human Transforming Growth Factor Betal (TGFβ1) gene and provides primers and methods suitable for the detection of these allelic variants for applications such as molecular diagnosis, prediction of an individual’s disease susceptibility, and/or the genetic analyses of the TGFβ1 gene in a population. Specifically, the invention provides a method for detection of predisposition to atopic disorders/other immunological disorders selected from group comprising of asthma, autoimmune disorders, inflammatory disorders, cancer, multiple sclerosis, fibrosis, tuberculosis, sarcoidosis, hypertension and related disorders, diabetes and related disorders, alcohol abuse, anxiety, COPD, cholecystectomy, degenerative joint disease, seizure disorderss, arthritis etc. where human transforming Growth Factor Betal (TGFβ1) plays an important role.