Primary DQ effect in the association between HLA and neurological syndromes with anti-GAD65 antibodies.

Journal of Neurology
Sergio Muñiz-CastrilloJérôme Honnorat

Abstract

The primary cause of neurological syndromes with antibodies against glutamic acid decarboxylase 65 (GAD65-Ab) is unknown, but genetic predisposition may exist as it is suggested by the co-occurrence in patients and their relatives of other organ-specific autoimmune diseases, notably type 1 diabetes mellitus (T1DM), and by the reports of a few familial cases. We analyzed the human leukocyte antigen (HLA) in 32 unrelated patients and compared them to an ethnically matched sample of 137 healthy controls. Four-digit resolution HLA alleles were imputed from available Genome Wide Association data, and full HLA next-generation sequencing-based typing was also performed. HLA DQA1*05:01-DQB1*02:01-DRB1*03:01 was the most frequent class II haplotype in patients (13/32, 41%). DQB1*02:01 was the only allele found to be significantly more common in patients than in controls (20/137, 15%, corrected p = 0.03, OR 3.96, 95% CI [1.54-10.09]). There was also a trend towards more frequent DQA1*05:01 among patients compared to controls (22/137, 16%; corrected p = 0.05, OR 3.54, 95% CI [1.40-8.91]) and towards a protective effect of DQB1*03:01 (2/32, 6% in patients vs. 42/137, 31% in control group; corrected p = 0.05, OR 0.15, 95% CI [0.02-0.65]). T...Continue Reading

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Citations

Jun 28, 2020·The Cerebellum·Sergio Muñiz-CastrilloJérôme Honnorat
May 28, 2020·International Journal of Molecular Sciences·Maëlle DadeAgusti Alentorn
Jul 9, 2020·Therapeutic Advances in Neurological Disorders·Alberto VogrigJérôme Honnorat
Feb 6, 2021·Journal of Neurology·Sergio Muñiz-CastrilloJérôme Honnorat
Jan 6, 2021·International Journal of Molecular Sciences·Yu-Chia KaoWang-Tso Lee
Apr 13, 2021·Brain : a Journal of Neurology·Sergio Muñiz-CastrilloJérôme Honnorat

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