Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Mayes, Maureen D; Bossini-Castillo ...; Gorlova, Olga; Martin, José Eze ...; Zhou, Xiaodong; Chen, Wei V; visa fler...; 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; visa färre...

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