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Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes (Disease Markers)

Publication Topics

California Health Interview Survey; 2001 CA Health Interview Survey (CHIS 2001); Screening for Early Disease Detection; Asthma; Child Development; Adolescents/Children; 2005 California Health Interview Survey (CHIS 2005)

Publication Type

CHIS Journal Article

Publication Date


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<a onclick="OpenPopUpPage('http:\u002f\\u002f_layouts\u002flistform.aspx?PageType=4\u0026ListId={7AAD61FA-4BCB-48C0-B0B7-87AFDC3673EF}\u0026ID=1905\u0026RootFolder=*', RefreshPage); return false;" href=";ListId={7AAD61FA-4BCB-48C0-B0B7-87AFDC3673EF}&amp;ID=1905&amp;RootFolder=*">Neda M. Bogari</a>

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<a onclick="OpenPopUpPage('http:\u002f\\u002f_layouts\u002flistform.aspx?PageType=4\u0026ListId={7AAD61FA-4BCB-48C0-B0B7-87AFDC3673EF}\u0026ID=151\u0026RootFolder=*', RefreshPage); return false;" href=";ListId={7AAD61FA-4BCB-48C0-B0B7-87AFDC3673EF}&amp;ID=151&amp;RootFolder=*">et al</a>

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Summary: Multiple genes have been implicated to have a role in asthma predisposition by association studies. Pediatric patients often manifest a more extensive form of this disease and a particularly severe disease course. It is likely that genetic predisposition could play a more substantial role in this group. This study is aimed at identifying the spectrum of rare and novel variation in known pediatric asthma susceptibility genes using whole exome sequencing analysis in nine individual cases of childhood onset allergic asthma. DNA samples from the nine children with a history of bronchial asthma diagnosis underwent whole exome sequencing on Ion Proton. For each patient, the entire complement of rare variation within strongly associated candidate genes was catalogued.

Findings: The analysis showed 21 variants in the subjects, 13 had been previously identified, and 8 were novel. Also, among of which, nineteen were nonsynonymous and 2 were nonsense. With regard to the novel variants, the 2 nonsynonymous variants in the PRKG1 were presented in 4 cases, and a nonsynonymous variant in the MAVS gene was identified in 3 cases. The variants that the authors found in this study will enrich the variant spectrum and build up the database in the Saudi population. Novel eight variants were identified in the study which provides more evidence in the genetic susceptibility in asthma among Saudi children, providing a genetic screening map for the molecular genetic determinants of allergic disease in Saudi children, with the goal of reducing the impact of chronic diseases on the health and the economy.

Authors believe that the advanced specified statistical filtration/annotation programs used in this study succeeded to release such results in a preliminary study, exploring the genetic map of that disease in Saudi children.

This study refers to 2001 and 2005 California Health Interview Survey (CHIS) data.


Article 1

Journal Article: Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes

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Press Release

Related Link 1

Related Journal Article: Environmental Public Health Tracking of Childhood Asthma Using California Health Interview Survey, Traffic, and Outdoor Air Pollution Data

Related Link 2

California Health Interview Survey (CHIS)

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Version: 3.0
Created at 5/18/2021 12:48 PM by i:0#.f|uclachissqlmembershipprovider|celeste
Last modified at 6/14/2021 3:36 PM by i:0#.f|uclachissqlmembershipprovider|venetia