Sökning: onr:"swepub:oai:lup.lub.lu.se:66896325-ff51-4492-bbad-7c5d785acae9" > Immunochip analysis...
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000 | 06049naa a2201225 4500 | |
001 | oai:lup.lub.lu.se:66896325-ff51-4492-bbad-7c5d785acae9 | |
003 | SwePub | |
008 | 160401s2014 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:128105742 | |
024 | 7 | a https://lup.lub.lu.se/record/42920552 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2013.12.0022 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1281057422 URI |
040 | a (SwePub)lud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Mayes, Maureen D4 aut |
245 | 1 0 | a Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis. |
264 | 1 | b Elsevier BV,c 2014 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Bossini-Castillo, Lara4 aut |
700 | 1 | a Gorlova, Olga4 aut |
700 | 1 | a Martin, José Ezequiel4 aut |
700 | 1 | a Zhou, Xiaodong4 aut |
700 | 1 | a Chen, Wei V4 aut |
700 | 1 | a Assassi, Shervin4 aut |
700 | 1 | a Ying, Jun4 aut |
700 | 1 | a Tan, Filemon K4 aut |
700 | 1 | a Arnett, Frank C4 aut |
700 | 1 | a Reveille, John D4 aut |
700 | 1 | a Guerra, Sandra4 aut |
700 | 1 | a Teruel, María4 aut |
700 | 1 | a Carmona, Francisco David4 aut |
700 | 1 | a Gregersen, Peter K4 aut |
700 | 1 | a Lee, Annette T4 aut |
700 | 1 | a López-Isac, Elena4 aut |
700 | 1 | a Ochoa, Eguzkine4 aut |
700 | 1 | a Carreira, Patricia4 aut |
700 | 1 | a Simeón, Carmen Pilar4 aut |
700 | 1 | a Castellví, Iván4 aut |
700 | 1 | a González-Gay, Miguel Ángel4 aut |
700 | 1 | a Zhernakova, Alexandra4 aut |
700 | 1 | a Padyukov, Leonidu Karolinska Institutet4 aut |
700 | 1 | a Alarcón-Riquelme, Marta4 aut |
700 | 1 | a Wijmenga, Cisca4 aut |
700 | 1 | a Brown, Matthew4 aut |
700 | 1 | a Beretta, Lorenzo4 aut |
700 | 1 | a Riemekasten, Gabriela4 aut |
700 | 1 | a Witte, Torsten4 aut |
700 | 1 | a Hunzelmann, Nicolas4 aut |
700 | 1 | a Kreuter, Alexander4 aut |
700 | 1 | a Distler, Jörg H W4 aut |
700 | 1 | a Voskuyl, Alexandre E4 aut |
700 | 1 | a Schuerwegh, Annemie J4 aut |
700 | 1 | a Hesselstrand, Rogeru 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 Medicine4 aut0 (Swepub:lu)reum-rhe |
700 | 1 | a Nordin, Annikau Karolinska Institutet4 aut |
700 | 1 | a Airó, Paolo4 aut |
700 | 1 | a Lunardi, Claudio4 aut |
700 | 1 | a Shiels, Paul4 aut |
700 | 1 | a van Laar, Jacob M4 aut |
700 | 1 | a Herrick, Ariane4 aut |
700 | 1 | a Worthington, Jane4 aut |
700 | 1 | a Denton, Christopher4 aut |
700 | 1 | a Wigley, Fredrick M4 aut |
700 | 1 | a Hummers, Laura K4 aut |
700 | 1 | a Varga, John4 aut |
700 | 1 | a Hinchcliff, Monique E4 aut |
700 | 1 | a Baron, Murray4 aut |
700 | 1 | a Hudson, Marie4 aut |
700 | 1 | a Pope, Janet E4 aut |
700 | 1 | a Furst, Daniel E4 aut |
700 | 1 | a Khanna, Dinesh4 aut |
700 | 1 | a Phillips, Kristin4 aut |
700 | 1 | a Schiopu, Elena4 aut |
700 | 1 | a Segal, Barbara M4 aut |
700 | 1 | a Molitor, Jerry A4 aut |
700 | 1 | a Silver, Richard M4 aut |
700 | 1 | a Steen, Virginia D4 aut |
700 | 1 | a Simms, Robert W4 aut |
700 | 1 | a Lafyatis, Robert A4 aut |
700 | 1 | a Fessler, Barri J4 aut |
700 | 1 | a Frech, Tracy M4 aut |
700 | 1 | a Alkassab, Firas4 aut |
700 | 1 | a Docherty, Peter4 aut |
700 | 1 | a Kaminska, Elzbieta4 aut |
700 | 1 | a Khalidi, Nader4 aut |
700 | 1 | a Jones, Henry Niall4 aut |
700 | 1 | a Markland, Janet4 aut |
700 | 1 | a Robinson, David4 aut |
700 | 1 | a Broen, Jasper4 aut |
700 | 1 | a Radstake, Timothy R D J4 aut |
700 | 1 | a Fonseca, Carmen4 aut |
700 | 1 | a Koeleman, Bobby P4 aut |
700 | 1 | a Martin, Javier4 aut |
710 | 2 | a Karolinska Institutetb Reumatologi och molekylär skelettbiologi4 org |
773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 94:1, s. 47-61q 94:1<47-61x 0002-9297x 1537-6605 |
856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/24387989?dopt=Abstracty FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1016/j.ajhg.2013.12.002y FULLTEXT |
856 | 4 | u http://www.cell.com/article/S0002929713005715/pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/4292055 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2013.12.002 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:128105742 |
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