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Next generation exome sequencing of pediatric asthma identifies rare and novel variants in candidate genes

Next generation exome sequencing of pediatric asthma identifies rare and novel variants in candidate genes
Next generation exome sequencing of pediatric asthma identifies rare and novel variants in candidate genes

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. 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 gene (PRKG1: p.C519W and PRKG1: p.G520W) were presented in 4 cases, and a nonsynonymous variant in the MAVS gene (MAVS: p.A45V) was identified in 3 cases. The variants we 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. We 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.

0278-0240
Bogari, Neda M.
72bc411e-117c-4b84-acfa-815bd0e68077
Amin, Amr A.
ba1d30e5-2d96-4ef1-8251-cbb99045721f
Rayes, Husni H.
ae1713d1-3eb9-4862-be12-15059f0abb7f
Abdelmotelb, Ahmed
cebf8ef6-9dbe-433d-b8ac-f9f8c0ee3f94
Taher, Mohiuddin M.
8838f2a7-41b0-499f-9db0-b842a1b2eeed
Al-Allaf, Faisal A.
9c1bc3fa-a2a1-49f9-962b-05935361c94b
Bouazzaoui, Abdellatif
187e12c3-8a9d-4eb8-bd03-15ba8f23464d
O’Gorman, Luke
6127468d-0693-4a05-b2d0-2f1c2ddc84ff
Holloway, John W.
4bbd77e6-c095-445d-a36b-a50a72f6fe1a
Bogari, Neda M.
72bc411e-117c-4b84-acfa-815bd0e68077
Amin, Amr A.
ba1d30e5-2d96-4ef1-8251-cbb99045721f
Rayes, Husni H.
ae1713d1-3eb9-4862-be12-15059f0abb7f
Abdelmotelb, Ahmed
cebf8ef6-9dbe-433d-b8ac-f9f8c0ee3f94
Taher, Mohiuddin M.
8838f2a7-41b0-499f-9db0-b842a1b2eeed
Al-Allaf, Faisal A.
9c1bc3fa-a2a1-49f9-962b-05935361c94b
Bouazzaoui, Abdellatif
187e12c3-8a9d-4eb8-bd03-15ba8f23464d
O’Gorman, Luke
6127468d-0693-4a05-b2d0-2f1c2ddc84ff
Holloway, John W.
4bbd77e6-c095-445d-a36b-a50a72f6fe1a

Bogari, Neda M., Amin, Amr A., Rayes, Husni H., Abdelmotelb, Ahmed, Taher, Mohiuddin M., Al-Allaf, Faisal A., Bouazzaoui, Abdellatif, O’Gorman, Luke and Holloway, John W. (2021) Next generation exome sequencing of pediatric asthma identifies rare and novel variants in candidate genes. Disease Markers, 2021, [8884229]. (doi:10.1155/2021/8884229).

Record type: Article

Abstract

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. 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 gene (PRKG1: p.C519W and PRKG1: p.G520W) were presented in 4 cases, and a nonsynonymous variant in the MAVS gene (MAVS: p.A45V) was identified in 3 cases. The variants we 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. We 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.

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More information

Accepted/In Press date: 3 February 2021
Published date: 9 February 2021

Identifiers

Local EPrints ID: 447577
URI: http://eprints.soton.ac.uk/id/eprint/447577
ISSN: 0278-0240
PURE UUID: e3753b7a-450e-4d50-9dd9-07767b15d884
ORCID for John W. Holloway: ORCID iD orcid.org/0000-0001-9998-0464

Catalogue record

Date deposited: 16 Mar 2021 17:42
Last modified: 26 Nov 2021 02:40

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Contributors

Author: Neda M. Bogari
Author: Amr A. Amin
Author: Husni H. Rayes
Author: Ahmed Abdelmotelb
Author: Mohiuddin M. Taher
Author: Faisal A. Al-Allaf
Author: Abdellatif Bouazzaoui
Author: Luke O’Gorman

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