{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T10:52:38Z","timestamp":1776509558101,"version":"3.51.2"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,4]],"date-time":"2017-04-04T00:00:00Z","timestamp":1491264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatology"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Inclusion body myositis (IBM) is characterized by a combination of inflammatory and degenerative changes affecting muscle. While the primary cause of IBM is unknown, genetic factors may influence disease susceptibility. To determine genetic factors contributing to the etiology of IBM, we conducted the largest genetic association study of the disease to date, investigating immune\u2010related genes using the Immunochip.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 252 Caucasian patients with IBM were recruited from 11 countries through the Myositis Genetics Consortium and compared with 1,008 ethnically matched controls. Classic HLA alleles and amino acids were imputed using SNP2HLA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The HLA region was confirmed as the most strongly associated region in IBM (<jats:italic>P<\/jats:italic>\u2009=\u20093.58 \u00d7 10<jats:sup>\u221233<\/jats:sup>). HLA imputation identified 3 independent associations (with HLA\u2013DRB1*03:01, DRB1*01:01, and DRB1*13:01), although the strongest association was with amino acid positions 26 and 11 of the HLA\u2013DRB1 molecule. No association with anti\u2013cytosolic 5\u2032\u2010nucleotidase 1A\u2013positive status was found independent of HLA\u2013DRB1*03:01. There was no association of HLA genotypes with age at onset of IBM. Three non\u2010HLA regions reached suggestive significance, including the chromosome 3 p21.31 region, an established risk locus for autoimmune disease, where a frameshift mutation in <jats:italic>CCR5<\/jats:italic> is thought to be the causal variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the largest, most comprehensive genetic association study to date in IBM. The data confirm that HLA is the most strongly associated region and identifies novel amino acid associations that may explain the risk in this locus. These amino acid associations differentiate IBM from polymyositis and dermatomyositis and may determine properties of the peptide\u2010binding groove, allowing it to preferentially bind autoantigenic peptides. A novel suggestive association within the chromosome 3 p21.31 region suggests a role for <jats:italic>CCR5<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.40045","type":"journal-article","created":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T18:14:22Z","timestamp":1484331262000},"page":"1090-1099","source":"Crossref","is-referenced-by-count":56,"title":["Immune\u2010Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA\u2013DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum"],"prefix":"10.1002","volume":"69","author":[{"given":"Simon","family":"Rothwell","sequence":"first","affiliation":[{"name":"University of Manchester Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert G.","family":"Cooper","sequence":"additional","affiliation":[{"name":"University of Liverpool Liverpool UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid E.","family":"Lundberg","sequence":"additional","affiliation":[{"name":"Karolinska University Hospital, Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter K.","family":"Gregersen","sequence":"additional","affiliation":[{"name":"Feinstein Institute for Medical Research Manhasset New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael G.","family":"Hanna","sequence":"additional","affiliation":[{"name":"University College London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro M.","family":"Machado","sequence":"additional","affiliation":[{"name":"University College London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan K.","family":"Herbert","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center, Boston, Massachusetts, and Radboud University Nijmegen Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ger J. 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