REPORT-Association analysis of STAT6 SNP with asthma in Pakistani population.

Signal transducer and activator of transcription 6 gene (STAT6) is an important player of inflammatory pathways. The role of single nucleotide polymorphisms (SNPs) of STAT6 to the risk of asthma or IgE has been studied in several populations. We examined STAT6 SNP in relation to asthma risk among Pakistani individuals, suffering from asthma. We genotyped STAT6 SNP rs1059513 using SNaPshot minisequencing assay. SNP association analysis was statistically confirmed by linkage disequilibrium calculator and online SHEsis software. Significance of differences between asthmatics and control group was tested for genotypes and allele frequencies. Our results indicated that STAT6 polymorphism rs1059513 has no association with asthma in Pakistani population as any difference in allele frequency and genotype was not observed between asthmatics and controls. The present study to date is very first of genetic variation in STAT6 and asthma risk, designed for evidence of the STAT6 involvement in asthma risk in Pakistani population.

STAT6 variants and non-atopic asthma in Pakistani population.

Asthma a chronic airway inflammatory disease mainly characterized by airways obstruction. Airway hyper responsiveness particularly in eosinophils and inflammatory mediators affect the bronchial mucosa. Genetic association studies show the association of single nucleotide polymorphisms (SNPs) in the STAT6 gene with asthma risk. Role of Signal transducer and activator of transcription 6 (STAT6) is acute for T-helper 2 (Th2) mediated responses during allergic airway diseases. Objective was to investigate whether the two single nucleotide polymorphism (rs4559 and rs324011) in STAT6 gene are associated with non-atopic asthma risk in Pakistani population. One hundred (100) asthma patients with a positive family history with at least one-first degree asthma affected relative were enrolled. Normal healthy individuals (n=100) were also included as control subjects in the current study. STAT6 SNPs rs4559 and rs324011 were genotyped using SNaPSHOT mini-sequencing assay and the obtained data was statistically analyzed by online SHEsis software. A case-control study for association of STAT6 polymorphisms rs4559 and rs324011 with asthma risk was performed. The SNP rs4559 was found statistically significantly associated with increased susceptibility of developing non-atopic asthma in Pakistani individuals. The SNP rs324011 polymorphism in intron 2 of STAT6 gene may be associated with increased susceptibility of the development of non-atopic asthma as a strong statistically significant difference in allele frequency and genotype was observed between asthmatics and controls showing association with non-atopic asthma in Pakistani individuals. rs4559 and rs324011SNPs in STAT6 found associated with non-atopic asthma risk. We observed the statistically significant association between STAT6 polymorphisms with intrinsic (non-atopic) asthma in Pakistani population.