Mayes, Maureen D., Bossini-Castillo, Lara ORCID: 0000-0002-5471-5824, Gorlova, Olga, Martin, Jose Ezequiel ORCID: 0000-0002-0051-8868, Zhou, Xiaodong, Chen, Wei V., Assassi, Shervin, Ying, Jun, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Guerra, Sandra, Terue, Maria, Carmona, Francisco David, Gregersen, Peter K., Lee, Annette T., Lopez-Isac, Elena ORCID: 0000-0001-8806-5148, Ochoa, Eguzkine ORCID: 0000-0002-1506-9065, Carreira, Patricia, Simeon, Carmen Pilar, Castellvi, Ivan ORCID: 0000-0002-5410-5807, Angel Gonzalez-Gay, Miguel, Zhernakova, Alexandra ORCID: 0000-0002-4574-0841, Padyukov, Leonid ORCID: 0000-0003-2950-5670, Aarcon-Riquelme, Marta, Wijmenga, Cisca ORCID: 0000-0002-5635-1614, Brown, Matthew, Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jorg H. W., Voskuy, Alexandre E., Schuerwegh, Annemie J., Hesselstrand, Roger, Nordin, Annika ORCID: 0000-0003-1976-4679, Airo, Paolo, Lunardi, Claudio, Shiels, Paul ORCID: 0000-0002-7577-9843, van Laar, Jacob M., Herrick, Ariane ORCID: 0000-0003-4941-7926, Worthington, Jane ORCID: 0000-0003-0544-042X, Denton, Christopher, Wigley, Fredrick M., Hummers, Laura K., Varga, John, Hinchcliff, Monique E., Baron, Murray, Hudson, Marie, Pope, Janet E., Furst, Daniel E., Khanna, Dinesh, Phillips, Kristin, Schiopu, Elena, Segal, Barbara M., Molitor, Jerry A., Silver, Richard M., Steen, Virginia D., Simms, Robert W., Lafyatis, Robert A., Fessler, Barn I. J., Frech, Tracy M., AlKassab, Firas, Docherty, Peter, Kaminska, Elzbieta, Khalidi, Nader, Jones, Henry Niall, Markland, Janet, Robinson, David, Broen, Jasper, Radstake, Timothy R. D. J., Fonseca, Carmen, Koeleman, Bobby P. and Martin, Javier ORCID: 0000-0002-2202-0622 (2014). Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis. Am. J. Hum. Genet., 94 (1). S. 47 - 62. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Full text not available from this repository.

Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Mayes, Maureen D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bossini-Castillo, LaraUNSPECIFIEDorcid.org/0000-0002-5471-5824UNSPECIFIED
Gorlova, OlgaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, Jose EzequielUNSPECIFIEDorcid.org/0000-0002-0051-8868UNSPECIFIED
Zhou, XiaodongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chen, Wei V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Assassi, ShervinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ying, JunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tan, Filemon K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnett, Frank C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reveille, John D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guerra, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Terue, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carmona, Francisco DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gregersen, Peter K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, Annette T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopez-Isac, ElenaUNSPECIFIEDorcid.org/0000-0001-8806-5148UNSPECIFIED
Ochoa, EguzkineUNSPECIFIEDorcid.org/0000-0002-1506-9065UNSPECIFIED
Carreira, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simeon, Carmen PilarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Castellvi, IvanUNSPECIFIEDorcid.org/0000-0002-5410-5807UNSPECIFIED
Angel Gonzalez-Gay, MiguelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhernakova, AlexandraUNSPECIFIEDorcid.org/0000-0002-4574-0841UNSPECIFIED
Padyukov, LeonidUNSPECIFIEDorcid.org/0000-0003-2950-5670UNSPECIFIED
Aarcon-Riquelme, MartaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wijmenga, CiscaUNSPECIFIEDorcid.org/0000-0002-5635-1614UNSPECIFIED
Brown, MatthewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beretta, LorenzoUNSPECIFIEDorcid.org/0000-0002-6529-6258UNSPECIFIED
Riemekasten, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witte, TorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Distler, Jorg H. W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voskuy, Alexandre E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuerwegh, Annemie J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hesselstrand, RogerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nordin, AnnikaUNSPECIFIEDorcid.org/0000-0003-1976-4679UNSPECIFIED
Airo, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lunardi, ClaudioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shiels, PaulUNSPECIFIEDorcid.org/0000-0002-7577-9843UNSPECIFIED
van Laar, Jacob M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrick, ArianeUNSPECIFIEDorcid.org/0000-0003-4941-7926UNSPECIFIED
Worthington, JaneUNSPECIFIEDorcid.org/0000-0003-0544-042XUNSPECIFIED
Denton, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wigley, Fredrick M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hummers, Laura K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varga, JohnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hinchcliff, Monique E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baron, MurrayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hudson, MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pope, Janet E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Furst, Daniel E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khanna, DineshUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Phillips, KristinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schiopu, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Segal, Barbara M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Molitor, Jerry A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Silver, Richard M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steen, Virginia D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simms, Robert W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lafyatis, Robert A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fessler, Barn I. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Frech, Tracy M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
AlKassab, FirasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Docherty, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaminska, ElzbietaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khalidi, NaderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jones, Henry NiallUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Markland, JanetUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robinson, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Broen, JasperUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radstake, Timothy R. D. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fonseca, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koeleman, Bobby P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, JavierUNSPECIFIEDorcid.org/0000-0002-2202-0622UNSPECIFIED
URN: urn:nbn:de:hbz:38-448786
DOI: 10.1016/j.ajhg.2013.12.002
Journal or Publication Title: Am. J. Hum. Genet.
Volume: 94
Number: 1
Page Range: S. 47 - 62
Date: 2014
Publisher: CELL PRESS
Place of Publication: CAMBRIDGE
ISSN: 1537-6605
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
WHOLE-GENOME ASSOCIATION; GENETIC RISK-FACTOR; FUNCTIONAL POLYMORPHISM; WIDE ASSOCIATION; DNASE-GAMMA; DISEASE; STAT4; IRF5; VARIANTS; PRDM1Multiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/44878

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item