title: Genetic variants of ADAM33 are associated with asthma susceptibility in the Punjabi population of Pakistan.
abstract: OBJECTIVE
  A disintegrin and metalloproteinase 33 (ADAM33) gene has been considered as an asthma susceptibility gene due to its possible role in airway remodeling, abnormal cell proliferation, and differentiation. Association of this gene with asthma has been reported in several genetic studies on various populations. The current study aims to evaluate the association of ADAM33 gene polymorphisms with the risk of asthma in the Punjabi population of Pakistan.
  
  
  METHODS
  A total of 101 asthma patients and 102 age-matched healthy controls from Lahore, a city in Punjab, were recruited. ADAM33 single nucleotide polymorphisms (SNPs) T + 1[rs2280089], T2[rs2280090], T1[rs2280091], ST + 5[rs597980], ST + 4[rs44707], S2[rs528557], Q - 1[rs612709], and F + 1[rs511898] were genotyped in both patients and controls using single base extension and capillary electrophoresis-based genetic analyzer. The basic allelic and genotypic model was analyzed for association of the SNPs with asthma using SHEsis software. Haploview software was used to calculate pairwise linkage disequilibrium (LD) among six of the genotyped SNPs.
  
  
  RESULTS
  Of the 8 SNPs genotyped, only S2[rs528557] showed significant association with asthma (Allele p = 0.0189, Genotype p = 0.021). SNPs T + 1[rs2280089], T2[rs2280090], T1[rs2280091], ST + 4[rs44707], S2[rs528557], and Q - 1[rs612709] were found to be in moderate to strong LD. The significantly higher frequency of haplotype "AAGTCG" in healthy controls suggests a protective effect against asthma risk in the studied population (p = 0.0059).
  
  
  CONCLUSIONS
  These findings suggest that genetic variants of ADAM33 gene may play important roles in asthma susceptibility in the Punjabi population of Pakistan.
authors.affiliation: a Centre for Applied Molecular Biology, University of the Punjab , Lahore , Pakistan .
authors.forename: Muhammad Farooq
authors.initials: MF
authors.lastname: Sabar
authors.affiliation: a Centre for Applied Molecular Biology, University of the Punjab , Lahore , Pakistan .
authors.forename: Muhammad Usman
authors.initials: MU
authors.lastname: Ghani
authors.affiliation: a Centre for Applied Molecular Biology, University of the Punjab , Lahore , Pakistan .|b Centre of Excellence in Molecular Biology, University of the Punjab , Lahore , Pakistan .
authors.forename: Mariam
authors.initials: M
authors.lastname: Shahid
authors.affiliation: a Centre for Applied Molecular Biology, University of the Punjab , Lahore , Pakistan .
authors.forename: Aleena
authors.initials: A
authors.lastname: Sumrin
authors.affiliation: c Allied Health Sciences, The University of Lahore , Lahore , Pakistan , and.
authors.forename: Amjad
authors.initials: A
authors.lastname: Ali
authors.affiliation: a Centre for Applied Molecular Biology, University of the Punjab , Lahore , Pakistan .
authors.forename: Muhammad
authors.initials: M
authors.lastname: Akram
authors.affiliation: c Allied Health Sciences, The University of Lahore , Lahore , Pakistan , and.
authors.forename: Muhammad Akram
authors.initials: MA
authors.lastname: Tariq
authors.affiliation: d Pediatric Pulmonology, The Children's Hospital & The Institute of Child Health , Lahore , Pakistan.
authors.forename: Iqbal
authors.initials: I
authors.lastname: Bano
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001249:Asthma / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D051722:ADAM Proteins; C450441:ADAM33 protein, human
keywords: ADAM33; Pakistan; Punjabi; asthma; haplotype; linkage disequilibrium; mini sequencing; single nucleotide polymorphisms