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2 results on '"Angelina Hatlø Maniaol"'

1. Next-Generation Sequencing Identifies Extended HLA Class I and II Haplotypes Associated With Early-Onset and Late-Onset Myasthenia Gravis in Italian, Norwegian, and Swedish Populations

Author

Lisa E. Creary, Sridevi Gangavarapu, Stacy J. Caillier, Paola Cavalcante, Rita Frangiamore, Benedicte A. Lie, Mats Bengtsson, Hanne Flinstad Harbo, Susanna Brauner, Jill A. Hollenbach, Jorge R. Oksenberg, Pia Bernasconi, Angelina Hatlø Maniaol, Lennart Hammarström, Renato Mantegazza, and Marcelo A. Fernández-Viña

Subjects
myasthenia gravis, human leukocyte antigen, next-generation sequencing, European, susceptibility, protection, Immunologic diseases. Allergy, RC581-607
Abstract

Genetic susceptibility to myasthenia gravis (MG) associates with specific HLA alleles and haplotypes at the class I and II regions in various populations. Previous studies have only examined alleles at a limited number of HLA loci that defined only broad serotypes or alleles defined at the protein sequence level. Consequently, genetic variants in noncoding and untranslated HLA gene segments have not been fully explored but could also be important determinants for MG. To gain further insight into the role of HLA in MG, we applied next-generation sequencing to analyze sequence variation at eleven HLA genes in early-onset (EO) and late-onset (LO) non-thymomatous MG patients positive for the acetylcholine receptor (AChR) antibodies and ethnically matched controls from Italy, Norway, and Sweden. For all three populations, alleles and haplotype blocks present on the ancestral haplotype AH8.1 were associated with risk in AChR-EOMG patients. HLA-B*08:01:01:01 was the dominant risk allele in Italians (OR = 3.28, P = 1.83E−05), Norwegians (OR = 3.52, P = 4.41E−16), and in Swedes HLA-B*08:01 was the primary risk allele (OR = 4.24, P

Published
2021
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2. Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients

Author

Espen Homleid, Alseth, Angelina Hatlø, Maniaol, Ahmed, Elsais, Hanne Linda, Nakkestad, Chantal, Tallaksen, Nils Erik, Gilhus, and Geir Olve, Skeie

Subjects
Adult, Male, Adolescent, Muscle Proteins, Middle Aged, Cohort Studies, Young Adult, Mutation, Myasthenia Gravis, Humans, Female, Child, Databases, Nucleic Acid, Aged
Abstract

Myasthenia gravis (MG) is an autoimmune disease. Patients without detectable antibodies against the nicotinic acetylcholine receptor or the muscle-specific tyrosine kinase are referred to as seronegative MG (SNMG). Because late-onset congenital myasthenic syndromes (CMSs) due to RAPSN or DOK7 mutations may be mistaken for SNMG, we investigated their frequency in a nationwide SNMG cohort.We performed sequencing of RAPSN and DOK7 in all Norwegian SNMG patients (n = 74) and 37 healthy controls, examining for the N88K and c.1124_1127dupTGCC mutations, respectively.We found 1 patient homozygous for N88K and 2 carriers of the N88K mutation. Sequencing of DOK7 revealed no mutations.This study confirms that rapsn CMS can be mistaken for SNMG. In addition, the frequency of rapsn CMS in our nationwide SNMG cohort was found to be low. SNMG patients with an atypical clinical presentation and pediatric cases should be tested for the N88K mutation before initiation of immunosuppressive drug treatment or thymectomy.

Published
2011

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