title: rs12603332 is associated with male asthma patients specifically in urban areas of Lahore, Pakistan.
abstract: OBJECTIVE
  rs12603332, an important regulatory site variant, is known to alter the regulatory motif E2A that is involved in the maturation of B-lymphocytes. The study was designed to check whether different environmental exposures alter its risk allele association with asthma or not.
  
  
  METHODS
  200 Physician-diagnosed asthma patients and 108 healthy individuals were enrolled from hospitals of Lahore. After quantitation of DNA extracted from peripheral blood, amplification of genomic region with rs12603332, followed by single base extension (SBE), was performed. Allele and genotype frequencies were calculated by SHEsis and Haploview software packages. Statistical analyses on PLINK were also performed, taking different factors as covariates. HaploReg analysis was done to predict the effect of risk allele on different regulatory motifs.
  
  
  RESULTS
  Risk allele for rs12603332 i.e., "C" allele was found to be significantly associated with male patients residing in urban localities.
  
  
  CONCLUSIONS
  The finding suggests that on exposure with urban environment, risk allele carriers tend to develop asthma symptoms via epigenetic regulation of motif associated with maturation of B-lymphocytes.
authors.affiliation: b Centre for Applied Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Muhammad Farooq
authors.identifier: http://orcid.org/0000-0003-0135-2991
authors.initials: MF
authors.lastname: Sabar
authors.affiliation: a Centre of Excellence in Molecular Biology , University of the Punjab , Lahore , Pakistan.|b Centre for Applied Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Mariam
authors.initials: M
authors.lastname: Shahid
authors.affiliation: c The Children's Hospital and The institute of Child Health , Pediatric Pulmonology , Lahore , Pakistan.
authors.forename: Iqbal
authors.initials: I
authors.lastname: Bano
authors.affiliation: b Centre for Applied Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Muhammad Usman
authors.initials: MU
authors.lastname: Ghani
authors.affiliation: b Centre for Applied Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Akram
authors.affiliation: b Centre for Applied Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Farheena
authors.initials: F
authors.lastname: Iqbal
authors.affiliation: a Centre of Excellence in Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Samra
authors.initials: S
authors.lastname: Kousar
authors.affiliation: d College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences , Riyadh , Saudi Arabia.
authors.forename: Zafar
authors.initials: Z
authors.lastname: Iqbal
authors.affiliation: a Centre of Excellence in Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Saba
authors.initials: S
authors.lastname: Altaf
authors.affiliation: a Centre of Excellence in Molecular Biology , University of the Punjab , Lahore , Pakistan.
authors.forename: Tayyab
authors.initials: T
authors.lastname: Husnain
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001249:Asthma / Q000453:epidemiology / Q000235:genetics*; D001402:B-Lymphocytes / Q000502:physiology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004781:Environmental Exposure; D044127:Epigenesis, Genetic; D006801:Humans; D008297:Male; D008875:Middle Aged; D010154:Pakistan / Q000453:epidemiology; D018570:Risk Assessment; D014504:Urban Health; D055815:Young Adult
keywords: Epigenetics; LD; single base extension; single nucleotide polymorphism