Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers

Allergy, Asthma & Immunology Research
Sangeetha VishweswaraiahNallur B Ramachandra

Abstract

Asthma is a complex disease caused by interplay of genes and environment on the genome of an individual. Copy number variations (CNVs) are more common compared to the other variations that disrupt genome organization. The effect of CNVs on asthma subgenome has been less studied compared to studies on the other variations. We report the assessments of CNV burden in asthma genes of normal cohorts carried out in different geographical areas of the world and discuss the relevance of the observation with respect to asthma pathogenesis. CNV analysis was performed using Affymerix high-resolution arrays, and various bioinformatics tools were used to understand the influence of genes on asthma pathogenesis. This study identified 61 genes associated with asthma and provided various mechanisms and pathways underlying asthma pathogenesis. CCL3L1, ADAM8, and MUC5B were the most prevalent asthma genes. Among them, CCL3L1 was found across all 12 populations in varying copy number states. This study also identified the inheritance of asthma-CNVs from parents to offspring creating the latent period for manifestation of asthma. This study revealed CNV burden with varying copy number states and identified susceptibility towards the disease manife...Continue Reading

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Citations

Apr 6, 2017·Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology·M W JohanssonD F Mosher
Feb 26, 2019·Frontiers in Pediatrics·Natalia Hernandez-PachecoCarlos Flores

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Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

WebGestalt
EnrichR
GEne SeT AnaLysis Toolkit

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