Hl-a Antigens in Myasthenia Gravis

Fritze, Dieter; Naeim, Faramarz; Herrman, Christian; Smith, George S.; Walford, R. L.

doi:10.1016/s0140-6736(74)92548-3

Cited by 114 publications

(43 citation statements)

References 38 publications

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“…Genetic susceptibility to MG has been implicated along with environmental factors and HLA loci have been reported to be associated and linked with disease development [5][6][7]. Since MG is a heterogenous disease and subgroups of MG have been described [8], disease subgroups according to sex, age of disease onset, clinical form, thymus pathology, and presence or absence of autoantibodies have been scrutinized for different genetic backgrounds or different HLA associations.…”

Section: Introductionmentioning

confidence: 99%

HLA-DQ Polymorphism in Turkish Patients With Myasthenia Gravis

et al. 2006

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Section: Introductionmentioning

confidence: 99%

HLA-DQ Polymorphism in Turkish Patients With Myasthenia Gravis

et al. 2006

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“…The association with human leukocyte antigen (HLA) antigens has been known since the early 1970s [6,7]. However, the nature and the intensity of the association vary depending on sex, age at disease onset, and thymic histology of the patients [8], and differ between Caucasian and Oriental populations [9,10].…”

Section: Introductionmentioning

confidence: 99%

HLA Class II and class I polymorphism in venezuelan patients with myasthenia gravis

et al. 2004

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“…The form of MG with thymus hyperplasia is known to be associated with the 8.1 haplotype (15) and was recently shown to be genetically linked to HLA, defining the MYAS1 locus (16). Two previous studies suggested that the disease locus is located closer to HLA-B than to DRB1 (17,18).…”

mentioning

confidence: 99%

Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia

Vandiedonck

Beaurain

Giraud

et al. 2004

Proc. Natl. Acad. Sci. U.S.A.

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The 8.1 haplotype of the HLA complex has been reproducibly associated with several autoimmune diseases and traits, notably with thymus hyperplasia in patients with acquired generalized myasthenia gravis, an autoantibody-mediated disease directed at the muscle acetylcholine receptor. However, the strong linkage disequilibrium across this haplotype has prevented the identification of the causative locus, termed MYAS1. Here, we localized MYAS1 to a 1.2-Mb genome segment by reconstructing haplotypes and assessing their transmission in 73 simplex families. This segment encompasses the class III and proximal class I regions, between the BAT3 and C3-2-11 markers, therefore unambiguously excluding the class II loci. In addition, a case-control study revealed a very strong association with a core haplotype in this same region following an additive model (P ‫؍‬ 7 ؋ 10 ؊11 , odds ratio 6.5 for one copy and 42 for two copies of the core haplotype). Finally, we showed that this region is associated with a marked increase in serum titers of anti-acetylcholine receptor autoantibodies (P ‫؍‬ 8 ؋ 10 ؊6 ). Remarkably, this effect was suppressed by a second locus in cis on the 8.1 haplotype and located toward the class II region. Altogether, these data demonstrate the highly significant but complex effects of the 8.1 haplotype on the phenotype of myasthenia gravis patients and might shed light on its role in other autoimmune diseases.

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Hl-a Antigens in Myasthenia Gravis

Cited by 114 publications

References 38 publications

HLA-DQ Polymorphism in Turkish Patients With Myasthenia Gravis

HLA-DQ Polymorphism in Turkish Patients With Myasthenia Gravis

HLA Class II and class I polymorphism in venezuelan patients with myasthenia gravis

Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia

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