rs111945767 - HLA-DRB5 - RNU1-61P

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of and Identification of and Three Distinct HLA Associations. - Molecular medicine (Cambridge, Mass.) (2019) · Seldin MF, Alkhairy OK, Lee AT, Lamb JA, Sussman J, Pirskanen-Matell R, Piehl F, Verschuuren JJGM, Kostera-Pruszczyk A, Szczudlik P, McKee D, Maniaol AH, Harbo HF, Lie BA, Melms A, Garchon HJ, Willcox N, Gregersen PK, Hammarstrom L · PubMed 26562150

  To investigate the genetics of late-onset myasthenia gravis (LOMG), we conducted a genome-wide association study imputation of>6 million single nucleotide polymorphisms (SNPs) in 532 LOMG cases (anti-acetylcholine receptor [AChR] antibody positive; onset age≥50 years) and 2,128 controls matched for sex and population substructure. The data confirm reported associations (rs4574025, = 3.9 × 10 , odds ratio [OR] 1.42) and identify a novel candidate gene, , achieving genome-wide significance (rs6998967, = 8.9 × 10 , OR 0.53). Several other SNPs showed suggestive significance including rs2476601 ( = 6.5 × 10 , OR 1.62) encoding the PTPN22 R620W variant noted in early-onset myasthenia gravis (EOMG) and other autoimmune diseases. In contrast, EOMG-associated SNPs in showed no association in

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