Cited by 130Autism Spectrum Disorder ResearchGenetic Associations and EpidemiologyGenetics and Neurodevelopmental Disorders

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Strong association of the third hypervariable region of HLA-DRβ1 with autism

Warren, Reed P., Odell, J.Dennis, Warren, W.Louise, Burger, Roger A., Maciulis, Alma, Daniels, Wayne W., Torres, Anthony R.·1996·Journal of Neuroimmunology

DOI 10.1016/0165-5728(96)00052-5

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Abstract

We reported that the major histocompatibility complex (MHC) including the null allele of the C4B gene and the extended haplotype B44-C30-DR4 is associated with autism. We report now that the third hypervariable region (HVR-3) of certain DR beta 1 alleles have very strong association with autism. The HVR-3 of DR beta 1* 0401 or the shared HVR-3 alleles DR beta 1* 0404 and DR beta 1* 0404 and DR *0101, was expressed on extended haplotypes in 23 of 50 (46%) autistic subjects as compared to only 6 of 79 (7.5%) normal subjects. Another HVR-3 sequence, the DR beta 1* 0701 allele, was carried on extended haplotypes in 16 (32.0%) of the autistic subjects as compared to 8 (10.1%) of the normal subjects.

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Authors: Warren, R. P., Odell, J. D., Warren, W. L., Burger, R. A., Maciulis, A., Daniels, W. W., & Torres, A. R.
Affiliations: Utah State University (US)
Corresponding author: Warren, Reed P.
ORCID: Torres, Anthony R.
Venue: Journal of Neuroimmunology
Publisher: Elsevier BV
Published: 1996-07
Volume: 67
Issue: 2
Pages: 97-102
ISSN: 0165-5728 (ISSN-L)
DOI: 10.1016/0165-5728(96)00052-5
OpenAlex: W2070318406
Cited by: 130
References: 23
Citations by year: 2025: 1 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 1 · 2020: 3 · 2019: 3 · 2018: 4 · 2017: 6 · 2016: 4 · 2015: 4 · 2014: 4 · 2013: 1 · 2012: 7
FWCI: 3.54
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Journal of Neuroimmunology (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5r01mh042119-10)
National Institute of Mental Health (MH-42119)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: autism spectrum disorder, HLA-DRB1, major histocompatibility complex, genetic association, extended haplotypes, HLA-DR4
MeSH terms: Alleles, Autistic Disorder, Chromosomes, Female, Haplotypes, Humans, Immunoglobulin Variable Region, Male, HLA-DR1 Antigen

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Strong association of the third hypervariable region of HLA-DRβ1 with autism

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