Sökning: WFRF:(Carreira C.) > A combined large-sc...
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000 | 03561naa a2200493 4500 | |
001 | oai:prod.swepub.kib.ki.se:135013478 | |
003 | SwePub | |
008 | 240701s2017 | |||||||||||000 ||eng| | |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1350134782 URI |
024 | 7 | a https://doi.org/10.1136/annrheumdis-2016-2094362 DOI |
040 | a (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Marquez, A4 aut |
245 | 1 0 | a A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus |
264 | c 2016-05-18 | |
264 | 1 | b BMJ,c 2017 |
520 | a During the last years, genome-wide association studies (GWASs) have identified a number of common genetic risk factors for rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). However, the genetic overlap between these two immune-mediated diseases has not been thoroughly examined so far. The aim of the present study was to identify additional risk loci shared between RA and SLE.MethodsWe performed a large-scale meta-analysis of GWAS data from RA (3911 cases and 4083 controls) and SLE (2237 cases and 6315 controls). The top-associated polymorphisms in the discovery phase were selected for replication in additional datasets comprising 13 641 RA cases and 31 921 controls and 1957 patients with SLE and 4588 controls.ResultsThe rs9603612 genetic variant, located nearby the COG6 gene, an established susceptibility locus for RA, reached genome-wide significance in the combined analysis including both discovery and replication sets (p value=2.95E−13). In silico expression quantitative trait locus analysis revealed that the associated polymorphism acts as a regulatory variant influencing COG6 expression. Moreover, protein–protein interaction and gene ontology enrichment analyses suggested the existence of overlap with specific biological processes, specially the type I interferon signalling pathway. Finally, genetic correlation and polygenic risk score analyses showed cross-phenotype associations between RA and SLE.ConclusionsIn conclusion, we have identified a new risk locus shared between RA and SLE through a meta-analysis including GWAS datasets of both diseases. This study represents the first comprehensive large-scale analysis on the genetic overlap between these two complex disorders. | |
700 | 1 | a Vidal-Bralo, L4 aut |
700 | 1 | a Rodriguez-Rodriguez, L4 aut |
700 | 1 | a Gonzalez-Gay, MA4 aut |
700 | 1 | a Balsa, A4 aut |
700 | 1 | a Gonzalez-Alvaro, I4 aut |
700 | 1 | a Carreira, P4 aut |
700 | 1 | a Ortego-Centeno, N4 aut |
700 | 1 | a Ayala-Gutierrez, MM4 aut |
700 | 1 | a Garcia-Hernandez, FJ4 aut |
700 | 1 | a Gonzalez-Escribano, MF4 aut |
700 | 1 | a Sabio, JM4 aut |
700 | 1 | a Tolosa, C4 aut |
700 | 1 | a Suarez, A4 aut |
700 | 1 | a Gonzalez, A4 aut |
700 | 1 | a Padyukov, Lu Karolinska Institutet4 aut |
700 | 1 | a Worthington, J4 aut |
700 | 1 | a Vyse, T4 aut |
700 | 1 | a Alarcon-Riquelme, ME4 aut |
700 | 1 | a Martin, J4 aut |
710 | 2 | a Karolinska Institutet4 org |
773 | 0 | t Annals of the rheumatic diseasesd : BMJg 76:1, s. 286-294q 76:1<286-294x 1468-2060x 0003-4967 |
856 | 4 | u https://www.research.manchester.ac.uk/portal/files/46113450/SLE_RA_MG_ARD_CLEAN_2_.pdf |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:135013478 |
856 | 4 8 | u https://doi.org/10.1136/annrheumdis-2016-209436 |
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