AUTHOR=Creary Lisa E. , Gangavarapu Sridevi , Caillier Stacy J. , Cavalcante Paola , Frangiamore Rita , Lie Benedicte A. , Bengtsson Mats , Harbo Hanne Flinstad , Brauner Susanna , Hollenbach Jill A. , Oksenberg Jorge R. , Bernasconi Pia , Maniaol Angelina Hatlø , Hammarström Lennart , Mantegazza Renato , Fernández-Viña Marcelo A. TITLE=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 JOURNAL=Frontiers in Immunology VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2021.667336 DOI=10.3389/fimmu.2021.667336 ISSN=1664-3224 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.