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294364

HLA-DR4 gene expression in a sample of Egyptian autistic children and their mothers: is it a risk factor?

Article

Last updated: 24 Dec 2024

OverviewSimilar Items

Subjects

-

Tags

Autoimmunity
Pediatrics

Abstract

Background: Autism spectrum disorder (ASD) is a biologically based neurodevelopmental disorder without a known cause. However, some autistic children experience an immune malfunction and numerous studies noted that probands with autism and their mothers had higher HLA-DR4 frequencies than their fathers did. Probably, the mother's HLA-DR4 activity contributes to the phenotype of autism in her fetus. The purpose of this work was to investigate any potential link between the HLA-DR4 gene and autism. Methods: We conducted a controlled cross-sectional study on 100 subjects enrolled from the Children's Hospital of Ain Shams University. They comprised four groups: 25 autistic children, 25 mothers of the autistic children, 25 healthy children as a control group, and 25 mothers of the healthy children. All children underwent a detailed history taking, general and neurological examination, and IQ assessment using the Stanford Binet scale. Molecular HLA-DR typing was assessed in all subjects. The diagnosis of ASD was established using the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) criteria. Severity was assessed using the childhood autism rating scale (CARS). Results: 45.5% of the autistic patients demonstrated the HLA DR4 allele compared to 36% of the control children. Up to 9.1% of cases of ASD had a double DR4 allele compared to 4% of the controls but with no significant statistical difference in between. Also, 48 % of the autistic children's mothers had the HLA DR4 allele compared to 24% of the control mothers but the difference did not reach a significant difference. On the other hand, the HLA DR3 haplotype was present in only 6.8 % of the patients' alleles compared to 24% of controls (p<0.05). Conclusion: The link of some HLA alleles to autism indicates the possible contributing role of these alleles to autoimmunity in some autistic children. Wider scale studies are needed to validate our findings.

DOI

10.21608/ejpa.2023.294364

Keywords

autism, HLA-DR4, Gene, children, Autoimmunity

Authors

First Name

Reham

Last Name

El-Hossiny

MiddleName

M.

Affiliation

Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Email

r-elhossiny@hotmail.com

City

-

Orcid

-

First Name

Farida

Last Name

El-Baz

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Email

-

City

-

Orcid

-

First Name

Eman

Last Name

Abdel-Aziz

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Email

-

City

-

Orcid

-

First Name

Amal

Last Name

Abbass

MiddleName

-

Affiliation

Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt

Email

-

City

-

Orcid

-

First Name

Reham

Last Name

Abdel Mageed

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Email

-

City

-

Orcid

-

First Name

Batoul

Last Name

Abdel Raouf

MiddleName

M.

Affiliation

Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Email

-

City

-

Orcid

-

Volume

21

Article Issue

1

Related Issue

40729

Issue Date

2023-04-01

Receive Date

2022-09-01

Publish Date

2023-04-01

Page Start

18

Page End

26

Print ISSN

1687-1642

Online ISSN

2314-8934

Article File

EJPA_Volume 21_Issue 1_Pages 18-26.pdf

PDF . 490.2kB

Link

https://ejpai.journals.ekb.eg/article_294364.html

Detail API

https://ejpai.journals.ekb.eg/service?article_code=294364

Order

294,364

Type

Original Article

Type Code

643

Publication Type

Journal

Publication Title

The Egyptian Journal of Pediatric Allergy and Immunology

Publication Link

https://ejpai.journals.ekb.eg/

MainTitle

HLA-DR4 gene expression in a sample of Egyptian autistic children and their mothers: is it a risk factor?

Details

Type

Article

Created At

24 Dec 2024