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- W2278668748 abstract "OBJECTIVE:To report the Human Leukocyte Antigen (HLA) profiles of a cohort of myasthenic patients with Muscle Specific Tyrosine Kinase (MuSK) antibodies (Abs) from Argentina.BACKGROUND:HLA genotypes have been associated with a predisposition to Myasthenia Gravis (MG) based on the age of onset, thymus pathology, and antibody characteristics.MuSK Abs have been found in variable proportions of seronegative MG patients. The differences may be explained by geographic and/or genetic characteristics.Associations of MuSK-MG and HLA-DRB1*14, HLA-DRB1*16 and DQB1*05 have recently been reported in three studies from distinct ethnic populations.We report the frequencies of polymorphisms and haplotypes of the HLA in a cohort of patients with MuSK -MG from ArgentinaDESIGN/METHODS:Frequencies of the polymorphisms and haplotypes A*- B* and DRB1*- DQB1* were determined in a cohort of 19 patients with MuSK-MG. Loci were typed by PCR-SSO (Luminex, CA,USA). Results were compared with those of the healthy donors from the National Marrow Donor Program (NMDP), USA (www.bioinformatics.nmdp.org). Anti-MuSK Abs were assayed by RIA (RSR Limited, Cardiff, UK).Statistical analyses were performed using the standard score test. The strength of association between HLA alleles was estimated by risk ratio and 95% confidence intervals. P <0.05 was considered to be statistically significantRESULTS:Higher frequencies of the polymorphisms A*24, B*49, DRB1*14, DRB1*16 and DQB1*05 were found when compared with the Caucasian and Hispanic populations from the USA.The haplotypes DRB1*1401-DQB1*0503; DRB1*1601-DQB1*0502 and DRB1*0101-DQB1*0504 are associated with MuSK-MG in our population.CONCLUSIONS:We confirm the association between MuSK-MG and the haplotypes DRB1*14-DQB1*05, DRB1*16-DQB1*05, as reported in previous studies. Furthermore, we found a strong association with HLA A*24 - B*49 and DRB1*01-DQ05 in our cohort. Disclosure: Dr. Mazia has nothing to disclose. Dr. Rugiero has nothing to disclose. Dr. Salutto has nothing to disclose. Dr. Galarza has nothing to disclose. Dr. Canitano has nothing to disclose. Dr. Perusco has nothing to disclose." @default.
- W2278668748 created "2016-06-24" @default.
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- W2278668748 date "2014-04-08" @default.
- W2278668748 modified "2023-09-23" @default.
- W2278668748 title "Genetic Predisposition To MuSK -Positive Myasthenia Gravis In Patients From Argentina (P2.079)" @default.
- W2278668748 hasPublicationYear "2014" @default.
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