title: Association of the STAT-6 rs324011 (C2892T) variant but not rs324015 (G2964A), with atopic asthma in a Saudi Arabian population.
abstract: BACKGROUND
  The signal transducer and activator of transcription 6 (STAT6) transduces signals in response to IL-4 and IL-13 cytokine stimulations, resulting in many cell-specific responses. Some common STAT6 SNPs were associated with asthma predisposition and/or IgE levels, although discrepancies have also been reported.
  
  
  OBJECTIVE
  To determine whether STAT6 rs324011 and rs324015 polymorphisms are associated with atopic asthma in Saudi Arabian patients.
  
  
  METHODS
  A total of 536 Saudi individuals aged 11-70years old (230 atopic asthmatics, 306 healthy subjects) were recruited. DNA was purified from peripheral blood and genotyping for rs324011 and rs324015 polymorphisms was performed by PCR amplification, followed by cycle sequencing of the purified PCR fragments using BigDye chain terminator and capillary electrophoresis.
  
  
  RESULTS
  By the contrast of alleles tests, no significant differences between asthma and healthy groups were detected for both variants (rs324011: X(2)=0.25, Pearson's P-value=0.617; rs324015: X(2)=0.068, Pearson's P=0.814).When testing for genotypes, rs324011 homozygous T/T genotype was significantly associated with asthma, when the Recessive model is considered (T/T vs. C/C+C/T) (adjusted, OR=2.49, 95% CI=1.18-5.25, Pearson's P=0.014(∗), Yates' P=0.022(∗)). In contrast, rs324015 variant was not significantly associated with asthma.
  
  
  CONCLUSIONS
  Rs324011 homozygous T/T genotype was significantly associated with asthma risk whereas rs324015 genotypes were not in the Saudi population.
authors.affiliation: Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Muhsen
authors.affiliation: Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Vazquez-Tello
authors.affiliation: Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Amer
authors.initials: A
authors.lastname: Jamhawi
authors.affiliation: King Saud University for Health Sciences, Riyadh, Saudi Arabia.
authors.forename: Hamdan
authors.initials: H
authors.lastname: Al-Jahdali
authors.affiliation: Department of Internal Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Bahammam
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Muslim
authors.initials: M
authors.lastname: Al Saadi
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Shaikh Mohammed
authors.initials: SM
authors.lastname: Iqbal
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Alfrayh
authors.affiliation: Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Sibtain
authors.initials: S
authors.lastname: Afzal
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Nouf
authors.initials: N
authors.lastname: Al-Khamis
authors.affiliation: Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address: rhalwani@ksu.edu.sa.
authors.forename: Rabih
authors.initials: R
authors.lastname: Halwani
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001249:Asthma / Q000235:genetics* / Q000503:physiopathology; D016022:Case-Control Studies; D002648:Child; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050800:STAT6 Transcription Factor / Q000235:genetics*; D012529:Saudi Arabia
chemical_list: D050800:STAT6 Transcription Factor; C494101:STAT6 protein, human
keywords: Atopic asthma; Case-control; IL-4 receptor; STAT6