Abstract

TYPE: Abstract Publication TOPIC: Biotechnology PURPOSE: Genome wide association and candidate gene studies have reported a number of asthma causative genomic variants but due to complex and heterogenic nature of asthma disease, a substantial heritability of asthma disease is still to be explored. This "missing inheritability" of disease may be investigated through identification of causative genomic variants that segregate in asthmatic families. METHODS: A family from Punjab province of Pakistan with three asthma and two healthy members were recruited for Whole Exome Sequencing (WES). Sequencing results were analyzed to identify the genomic sequence variants (Allele-Frequency<0.01) segregating with asthma. RESULTS: We have identified four sequence variants that are available in dbSNP(https://www.ncbi.nlm.nih.gov/snp/) and five single nucleotide point mutations in nine different genes that are involved in asthma/inflammatory/immune regulatory pathways. All variants were missense (mutation consequence) and hetrozyostic in segregation with asthma disease. The brief details are mentioned below CONCLUSIONS: We are reporting here nine family based asthma susceptible variants identified through WES. CLINICAL IMPLICATIONS: The identified asthma causative variants could be helpful in designing ethnic specific diagnostic and prognostic approaches against asthma disease in Pakistan. DISCLOSURE: No significant relationships. KEYWORD: Asthma, WES, Molecular Genetics, Genomic Variants