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Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.

Mayes, Maureen D (author)
Bossini-Castillo, Lara (author)
Gorlova, Olga (author)
show more...
Martin, José Ezequiel (author)
Zhou, Xiaodong (author)
Chen, Wei V (author)
Assassi, Shervin (author)
Ying, Jun (author)
Tan, Filemon K (author)
Arnett, Frank C (author)
Reveille, John D (author)
Guerra, Sandra (author)
Teruel, María (author)
Carmona, Francisco David (author)
Gregersen, Peter K (author)
Lee, Annette T (author)
López-Isac, Elena (author)
Ochoa, Eguzkine (author)
Carreira, Patricia (author)
Simeón, Carmen Pilar (author)
Castellví, Iván (author)
González-Gay, Miguel Ángel (author)
Zhernakova, Alexandra (author)
Padyukov, Leonid (author)
Karolinska Institutet
Alarcón-Riquelme, Marta (author)
Wijmenga, Cisca (author)
Brown, Matthew (author)
Beretta, Lorenzo (author)
Riemekasten, Gabriela (author)
Witte, Torsten (author)
Hunzelmann, Nicolas (author)
Kreuter, Alexander (author)
Distler, Jörg H W (author)
Voskuyl, Alexandre E (author)
Schuerwegh, Annemie J (author)
Hesselstrand, Roger (author)
Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
Nordin, Annika (author)
Karolinska Institutet
Airó, Paolo (author)
Lunardi, Claudio (author)
Shiels, Paul (author)
van Laar, Jacob M (author)
Herrick, Ariane (author)
Worthington, Jane (author)
Denton, Christopher (author)
Wigley, Fredrick M (author)
Hummers, Laura K (author)
Varga, John (author)
Hinchcliff, Monique E (author)
Baron, Murray (author)
Hudson, Marie (author)
Pope, Janet E (author)
Furst, Daniel E (author)
Khanna, Dinesh (author)
Phillips, Kristin (author)
Schiopu, Elena (author)
Segal, Barbara M (author)
Molitor, Jerry A (author)
Silver, Richard M (author)
Steen, Virginia D (author)
Simms, Robert W (author)
Lafyatis, Robert A (author)
Fessler, Barri J (author)
Frech, Tracy M (author)
Alkassab, Firas (author)
Docherty, Peter (author)
Kaminska, Elzbieta (author)
Khalidi, Nader (author)
Jones, Henry Niall (author)
Markland, Janet (author)
Robinson, David (author)
Broen, Jasper (author)
Radstake, Timothy R D J (author)
Fonseca, Carmen (author)
Koeleman, Bobby P (author)
Martin, Javier (author)
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 (creator_code:org_t)
Elsevier BV, 2014
2014
English.
In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 94:1, s. 47-61
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic amino acid positions and seven SNPs that explained the observed significant associations in the region. In addition, a replication step comprising 4,017 SSc cases and 5,935 controls was carried out for several selected non-HLA variants, reaching a total of 5,850 cases and 9,401 controls of European ancestry. Following this strategy, we identified and validated three SSc risk loci, including DNASE1L3 at 3p14, the SCHIP1-IL12A locus at 3q25, and ATG5 at 6q21, as well as a suggested association of the TREH-DDX6 locus at 11q23. The associations of several previously reported SSc risk loci were validated and further refined, and the observed peak of association in PXK was related to DNASE1L3. Our study has increased the number of known genetic associations with SSc, provided further insight into the pleiotropic effects of shared autoimmune risk factors, and highlighted the power of dense mapping for detecting previously overlooked susceptibility loci.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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By the author/editor
Mayes, Maureen D
Bossini-Castillo ...
Gorlova, Olga
Martin, José Eze ...
Zhou, Xiaodong
Chen, Wei V
show more...
Assassi, Shervin
Ying, Jun
Tan, Filemon K
Arnett, Frank C
Reveille, John D
Guerra, Sandra
Teruel, María
Carmona, Francis ...
Gregersen, Peter ...
Lee, Annette T
López-Isac, Elen ...
Ochoa, Eguzkine
Carreira, Patric ...
Simeón, Carmen P ...
Castellví, Iván
González-Gay, Mi ...
Zhernakova, Alex ...
Padyukov, Leonid
Alarcón-Riquelme ...
Wijmenga, Cisca
Brown, Matthew
Beretta, Lorenzo
Riemekasten, Gab ...
Witte, Torsten
Hunzelmann, Nico ...
Kreuter, Alexand ...
Distler, Jörg H ...
Voskuyl, Alexand ...
Schuerwegh, Anne ...
Hesselstrand, Ro ...
Nordin, Annika
Airó, Paolo
Lunardi, Claudio
Shiels, Paul
van Laar, Jacob ...
Herrick, Ariane
Worthington, Jan ...
Denton, Christop ...
Wigley, Fredrick ...
Hummers, Laura K
Varga, John
Hinchcliff, Moni ...
Baron, Murray
Hudson, Marie
Pope, Janet E
Furst, Daniel E
Khanna, Dinesh
Phillips, Kristi ...
Schiopu, Elena
Segal, Barbara M
Molitor, Jerry A
Silver, Richard ...
Steen, Virginia ...
Simms, Robert W
Lafyatis, Robert ...
Fessler, Barri J
Frech, Tracy M
Alkassab, Firas
Docherty, Peter
Kaminska, Elzbie ...
Khalidi, Nader
Jones, Henry Nia ...
Markland, Janet
Robinson, David
Broen, Jasper
Radstake, Timoth ...
Fonseca, Carmen
Koeleman, Bobby ...
Martin, Javier
show less...
About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
Articles in the publication
American Journal ...
By the university
Lund University
Karolinska Institutet

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