title: Association of S549N and IVS8-5T splice variants with bronchial asthma and its severity in Indian children.
abstract: BACKGROUND
  Cystic fibrosis transmembrane conductance regulator (CFTR) is an asthma susceptibility gene. Individuals heterozygous for CFTR gene mutation may develop obstructive pulmonary disease like bronchial asthma.
  
  
  OBJECTIVE
  To find out the association of S549N and IVS8-5T variants of the CFTR gene with bronchial asthma and its severity and to assess the combinational effect of S549N and IVS8-5T variants on severity of disease.
  
  
  METHODS
  Included were 250 clinically diagnosed bronchial asthma cases aged 5 months to 15 years and 250 age- and sex-matched controls. All cases were further categorized into four different categories as per Global Initiative for Asthma criteria (GINA) guidelines: mild intermittent (83), mild persistent (96), moderate persistent (52), and severe persistent (19). Screening for S549N and 5T variants was done using the polymerase chain reaction-restriction fragment length polymorphism method.
  
  
  RESULTS
  The proportion of IVS8-5T variant was found significantly higher in cases (10.8%) as compared with controls (2.4%) (p=0.001); however, no significant difference in the proportion of S549N was observed among cases (2.0%) and controls (0.8%) (p=0.447). Individuals mutant for IVS8-5T variant had increased risk for persistent asthma (p=0.000).
  
  
  CONCLUSIONS
  We conclude that IVS8-5T variant is associated with bronchial asthma and can also increase severity of the disease.
authors.affiliation: Translational Medicine Unit, Department of Pediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, India.
authors.forename: Nutan
authors.initials: N
authors.lastname: Maurya
authors.forename: Shally
authors.initials: S
authors.lastname: Awasthi
authors.forename: Pratibha
authors.initials: P
authors.lastname: Dixit
authors.forename: Sarita
authors.initials: S
authors.lastname: Agarwal
mesh_terms: D000293:Adolescent; D000483:Alleles; D001249:Asthma / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D006801:Humans; D007194:India; D007438:Introns; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing
chemical_list: D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator