AustralieFrV1, Main, Exploration, bibRecord, 000A24

Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

Identifieur interne : 000A24 ( Main/Exploration ); précédent : 000A23; suivant : 000A25

Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

Auteurs : Simon Rothwell ; Robert G. Cooper ; Ingrid E. Lundberg ; Peter K. Gregersen ; Michael G. Hanna ; Pedro M. Machado ; Megan K. Herbert ; Ger J. M. Pruijn ; James B. Lilleker ; Mark Roberts ; John Bowes ; Michael F. Seldin ; Jiri Vencovsky ; Katalin Danko ; Vidya Limaye ; Albert Selva-O'Callaghan ; Hazel Platt ; Yvind Molberg ; Olivier Benveniste ; Timothy R. D. J. Radstake ; Andrea Doria ; Jan De Bleecker ; Boel De Paepe ; Christian Gieger ; Thomas Meitinger ; Juliane Winkelmann ; Christopher I. Amos ; William E. Ollier ; Leonid Padyukov ; Annette T. Lee ; Janine A. Lamb ; Hector Chinoy

Source :

Arthritis & Rheumatology (Hoboken, N.j.) [ 2326-5191 ] ; 2017.

RBID : PMC:5516174

Descripteurs français

English descriptors

KwdEn :
- Age of Onset, Autoantibodies (immunology), Chromosomes, Human, Pair 3 (genetics), European Continental Ancestry Group (genetics), Genetic Association Studies, Genetic Predisposition to Disease, HLA-DRB1 Chains (genetics), Humans, Myositis, Inclusion Body (genetics), Myositis, Inclusion Body (immunology), Receptors, CCR5 (genetics).
MESH :
- chemical , genetics : HLA-DRB1 Chains, Receptors, CCR5.
- chemical , immunology : Autoantibodies.
- genetics : Chromosomes, Human, Pair 3, European Continental Ancestry Group, Myositis, Inclusion Body.
- immunology : Myositis, Inclusion Body.
- Age of Onset, Genetic Association Studies, Genetic Predisposition to Disease, Humans.

Abstract

Objective

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‐related genes using the Immunochip.

Methods

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.

Results

The HLA region was confirmed as the most strongly associated region in IBM (P = 3.58 × 10⁻³³). HLA imputation identified 3 independent associations (with HLA–DRB1*03:01, DRB1*01:01, and DRB1*13:01), although the strongest association was with amino acid positions 26 and 11 of the HLA–DRB1 molecule. No association with anti–cytosolic 5′‐nucleotidase 1A–positive status was found independent of HLA–DRB1*03:01. There was no association of HLA genotypes with age at onset of IBM. Three non‐HLA regions reached suggestive significance, including the chromosome 3 p21.31 region, an established risk locus for autoimmune disease, where a frameshift mutation in CCR5 is thought to be the causal variant.

Conclusion

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‐binding groove, allowing it to preferentially bind autoantigenic peptides. A novel suggestive association within the chromosome 3 p21.31 region suggests a role for CCR5.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516174

DOI: 10.1002/art.40045
PubMed: 28086002
PubMed Central: 5516174

Affiliations:

Le document en format XML

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<author><name sortKey="Vencovsky, Jiri" sort="Vencovsky, Jiri" uniqKey="Vencovsky J" first="Jiri" last="Vencovsky">Jiri Vencovsky</name>
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</affiliation>
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<author><name sortKey="Danko, Katalin" sort="Danko, Katalin" uniqKey="Danko K" first="Katalin" last="Danko">Katalin Danko</name>
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<author><name sortKey="Selva Callaghan, Albert" sort="Selva Callaghan, Albert" uniqKey="Selva Callaghan A" first="Albert" last="Selva-O'Callaghan">Albert Selva-O'Callaghan</name>
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<author><name sortKey="Platt, Hazel" sort="Platt, Hazel" uniqKey="Platt H" first="Hazel" last="Platt">Hazel Platt</name>
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<author><name sortKey="Molberg,  Yvind" sort="Molberg,  Yvind" uniqKey="Molberg  " first=" Yvind" last="Molberg"> Yvind Molberg</name>
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</affiliation>
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<author><name sortKey="Benveniste, Olivier" sort="Benveniste, Olivier" uniqKey="Benveniste O" first="Olivier" last="Benveniste">Olivier Benveniste</name>
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<author><name sortKey="Radstake, Timothy R D J" sort="Radstake, Timothy R D J" uniqKey="Radstake T" first="Timothy R. D. J." last="Radstake">Timothy R. D. J. Radstake</name>
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<author><name sortKey="Doria, Andrea" sort="Doria, Andrea" uniqKey="Doria A" first="Andrea" last="Doria">Andrea Doria</name>
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<term>Autoantibodies (immunology)</term>
<term>Chromosomes, Human, Pair 3 (genetics)</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Genetic Association Studies</term>
<term>Genetic Predisposition to Disease</term>
<term>HLA-DRB1 Chains (genetics)</term>
<term>Humans</term>
<term>Myositis, Inclusion Body (genetics)</term>
<term>Myositis, Inclusion Body (immunology)</term>
<term>Receptors, CCR5 (genetics)</term>
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<term>Chaines HLA-DRB1 (génétique)</term>
<term>Chromosomes humains de la paire 3 (génétique)</term>
<term>Humains</term>
<term>Myosite à inclusions (génétique)</term>
<term>Myosite à inclusions (immunologie)</term>
<term>Population d'origine européenne (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Récepteurs CCR5 (génétique)</term>
<term>Âge de début</term>
<term>Études d'associations génétiques</term>
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</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 3</term>
<term>European Continental Ancestry Group</term>
<term>Myositis, Inclusion Body</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chaines HLA-DRB1</term>
<term>Chromosomes humains de la paire 3</term>
<term>Myosite à inclusions</term>
<term>Population d'origine européenne</term>
<term>Récepteurs CCR5</term>
</keywords>
<keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Autoanticorps</term>
<term>Myosite à inclusions</term>
</keywords>
<keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Myositis, Inclusion Body</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>Genetic Association Studies</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Humains</term>
<term>Prédisposition génétique à une maladie</term>
<term>Âge de début</term>
<term>Études d'associations génétiques</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="art40045-sec-0001"><title>Objective</title>
<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‐related genes using the Immunochip.</p>
</sec>
<sec id="art40045-sec-0002"><title>Methods</title>
<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.</p>
</sec>
<sec id="art40045-sec-0003"><title>Results</title>
<p>The HLA region was confirmed as the most strongly associated region in IBM (<italic>P</italic>
 = 3.58 × 10<sup>−33</sup>
). HLA imputation identified 3 independent associations (with HLA–DRB1*03:01, DRB1*01:01, and DRB1*13:01), although the strongest association was with amino acid positions 26 and 11 of the HLA–DRB1 molecule. No association with anti–cytosolic 5′‐nucleotidase 1A–positive status was found independent of HLA–DRB1*03:01. There was no association of HLA genotypes with age at onset of IBM. Three non‐HLA regions reached suggestive significance, including the chromosome 3 p21.31 region, an established risk locus for autoimmune disease, where a frameshift mutation in <italic>CCR5</italic>
 is thought to be the causal variant.</p>
</sec>
<sec id="art40045-sec-0004"><title>Conclusion</title>
<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‐binding groove, allowing it to preferentially bind autoantigenic peptides. A novel suggestive association within the chromosome 3 p21.31 region suggests a role for <italic>CCR5</italic>
.</p>
</sec>
</div>
</front>
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<tree><noCountry><name sortKey="Amos, Christopher I" sort="Amos, Christopher I" uniqKey="Amos C" first="Christopher I." last="Amos">Christopher I. Amos</name>
<name sortKey="Benveniste, Olivier" sort="Benveniste, Olivier" uniqKey="Benveniste O" first="Olivier" last="Benveniste">Olivier Benveniste</name>
<name sortKey="Bowes, John" sort="Bowes, John" uniqKey="Bowes J" first="John" last="Bowes">John Bowes</name>
<name sortKey="Chinoy, Hector" sort="Chinoy, Hector" uniqKey="Chinoy H" first="Hector" last="Chinoy">Hector Chinoy</name>
<name sortKey="Cooper, Robert G" sort="Cooper, Robert G" uniqKey="Cooper R" first="Robert G." last="Cooper">Robert G. Cooper</name>
<name sortKey="Danko, Katalin" sort="Danko, Katalin" uniqKey="Danko K" first="Katalin" last="Danko">Katalin Danko</name>
<name sortKey="De Bleecker, Jan" sort="De Bleecker, Jan" uniqKey="De Bleecker J" first="Jan" last="De Bleecker">Jan De Bleecker</name>
<name sortKey="De Paepe, Boel" sort="De Paepe, Boel" uniqKey="De Paepe B" first="Boel" last="De Paepe">Boel De Paepe</name>
<name sortKey="Doria, Andrea" sort="Doria, Andrea" uniqKey="Doria A" first="Andrea" last="Doria">Andrea Doria</name>
<name sortKey="Gieger, Christian" sort="Gieger, Christian" uniqKey="Gieger C" first="Christian" last="Gieger">Christian Gieger</name>
<name sortKey="Gregersen, Peter K" sort="Gregersen, Peter K" uniqKey="Gregersen P" first="Peter K." last="Gregersen">Peter K. Gregersen</name>
<name sortKey="Hanna, Michael G" sort="Hanna, Michael G" uniqKey="Hanna M" first="Michael G." last="Hanna">Michael G. Hanna</name>
<name sortKey="Herbert, Megan K" sort="Herbert, Megan K" uniqKey="Herbert M" first="Megan K." last="Herbert">Megan K. Herbert</name>
<name sortKey="Lamb, Janine A" sort="Lamb, Janine A" uniqKey="Lamb J" first="Janine A." last="Lamb">Janine A. Lamb</name>
<name sortKey="Lee, Annette T" sort="Lee, Annette T" uniqKey="Lee A" first="Annette T." last="Lee">Annette T. Lee</name>
<name sortKey="Lilleker, James B" sort="Lilleker, James B" uniqKey="Lilleker J" first="James B." last="Lilleker">James B. Lilleker</name>
<name sortKey="Limaye, Vidya" sort="Limaye, Vidya" uniqKey="Limaye V" first="Vidya" last="Limaye">Vidya Limaye</name>
<name sortKey="Lundberg, Ingrid E" sort="Lundberg, Ingrid E" uniqKey="Lundberg I" first="Ingrid E." last="Lundberg">Ingrid E. Lundberg</name>
<name sortKey="Machado, Pedro M" sort="Machado, Pedro M" uniqKey="Machado P" first="Pedro M." last="Machado">Pedro M. Machado</name>
<name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
<name sortKey="Molberg,  Yvind" sort="Molberg,  Yvind" uniqKey="Molberg  " first=" Yvind" last="Molberg"> Yvind Molberg</name>
<name sortKey="Ollier, William E" sort="Ollier, William E" uniqKey="Ollier W" first="William E." last="Ollier">William E. Ollier</name>
<name sortKey="Padyukov, Leonid" sort="Padyukov, Leonid" uniqKey="Padyukov L" first="Leonid" last="Padyukov">Leonid Padyukov</name>
<name sortKey="Platt, Hazel" sort="Platt, Hazel" uniqKey="Platt H" first="Hazel" last="Platt">Hazel Platt</name>
<name sortKey="Pruijn, Ger J M" sort="Pruijn, Ger J M" uniqKey="Pruijn G" first="Ger J. M." last="Pruijn">Ger J. M. Pruijn</name>
<name sortKey="Radstake, Timothy R D J" sort="Radstake, Timothy R D J" uniqKey="Radstake T" first="Timothy R. D. J." last="Radstake">Timothy R. D. J. Radstake</name>
<name sortKey="Roberts, Mark" sort="Roberts, Mark" uniqKey="Roberts M" first="Mark" last="Roberts">Mark Roberts</name>
<name sortKey="Rothwell, Simon" sort="Rothwell, Simon" uniqKey="Rothwell S" first="Simon" last="Rothwell">Simon Rothwell</name>
<name sortKey="Seldin, Michael F" sort="Seldin, Michael F" uniqKey="Seldin M" first="Michael F." last="Seldin">Michael F. Seldin</name>
<name sortKey="Selva Callaghan, Albert" sort="Selva Callaghan, Albert" uniqKey="Selva Callaghan A" first="Albert" last="Selva-O'Callaghan">Albert Selva-O'Callaghan</name>
<name sortKey="Vencovsky, Jiri" sort="Vencovsky, Jiri" uniqKey="Vencovsky J" first="Jiri" last="Vencovsky">Jiri Vencovsky</name>
<name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
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Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

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