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Sökning: id:"swepub:oai:DiVA.org:uu-205113" > Genetic association...

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FältnamnIndikatorerMetadata
00004865naa a2200541 4500
001oai:DiVA.org:uu-205113
003SwePub
008130814s2014 | |||||||||||000 ||eng|
009oai:lup.lub.lu.se:67b669cf-cf1b-4daf-8cfd-432940567794
009oai:DiVA.org:liu-105186
009oai:prod.swepub.kib.ki.se:128835237
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2051132 URI
0247 a https://doi.org/10.1136/annrheumdis-2012-2025002 DOI
0247 a https://lup.lub.lu.se/record/44823292 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1051862 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1288352372 URI
040 a (SwePub)uud (SwePub)lud (SwePub)liud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Reksten, Tove Ragnau Uppsala universitet,Reumatologi,University of Bergen, Norway / Uppsala University, Sweden4 aut
2451 0a Genetic associations to germinal centre formation in primary Sjögren's syndrome
264 c 2013-04-20
264 1b BMJ,c 2014
338 a print2 rdacarrier
520 a BackgroundPrimary Sjögren's syndrome (pSS) is an autoimmune rheumatic disease mainly characterised by focal mononuclear cell infiltration in the salivary and lacrimal glands, and by the symptoms xerostomia and keratoconjunctivitis sicca. Germinal centre-like structures (GC) are found in the minor salivary glands of approximately 25% of patients. In this study, we aimed to assess genetic variations in pSS patients with GC-like formations (GC+) compared with patients without such formations (GC−).MethodsMinor salivary gland biopsies from Swedish and Norwegian pSS patients (n=320) were evaluated for GC-like formations, identifying 76 GC+ and 244 GC− patients. A panel of 1536 single-nucleotide polymorphisms (SNPs) in 107 genes was genotyped. Minor allele frequencies in GC+ and GC− patients were compared using Fisher's exact test, and associations were considered significant when p<4.7×10−4 and suggestive when p<0.01.ResultsIn this case-only analysis, we identified two SNPs in CCL11 (eotaxin) associated with GC-like structures (p<4.7×10−4, OR 0.45 and 0.41, respectively). A haplotype of the two minor alleles was associated with GC status with p=2.6×10−4, OR 0.40. Suggestive associations (p<0.01) were found in SNPs in the B cell activation and/or GC-formation related genes AICDA, BANK1 and BCL2. Furthermore, SNPs in IL17A, ICA1, PKN1 and SNPs in the NF-κB pathway genes CARD8, IKBKE and TANK were found suggestively associated with GC-like structures.ConclusionsOur findings suggest that genetic variations may explain why ectopic GC-like structures are present in some pSS patients, and support the hypothesis that GC+ and GC− patients represent distinct disease phenotypes.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng
653 a Medicin
653 a Medicine
7001 a Johnsen, Svein Joar Auglændu Stavanger University Hospital, Norway4 aut
7001 a Jonsson, Malin Viktoriau University of Bergen, Norway4 aut
7001 a Omdal, Roaldu Stavanger University Hospital, Norway4 aut
7001 a Brun, Johan Gu University of Bergen, Norway4 aut
7001 a Theander, Elkeu Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups,Skåne University Hospital, Lund University, Malmö, Sweden4 aut0 (Swepub:lu)medf-eth
7001 a Eriksson, Peru Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för inflammationsmedicin,Hälsouniversitetet,Reumatologiska kliniken i Östergötland4 aut0 (Swepub:liu)perer22
7001 a Wahren-Herlenius, Marieu Karolinska Institutet4 aut
7001 a Jonsson, Rolandu University of Bergen, Norway / Haukeland University Hospital, Bergen, Norway4 aut
7001 a Nordmark, Gunnelu Uppsala universitet,Reumatologi,Uppsala University, Sweden4 aut0 (Swepub:uu)gunnnord
7102 a Uppsala universitetb Reumatologi4 org
7730 t Annals of the Rheumatic Diseasesd : BMJg 73:6, s. 1253-1258q 73:6<1253-1258x 0003-4967x 1468-2060
8564 u http://dx.doi.org/10.1136/annrheumdis-2012-202500y FULLTEXT
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-205113
8564 8u https://doi.org/10.1136/annrheumdis-2012-202500
8564 8u https://lup.lub.lu.se/record/4482329
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-105186
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:128835237

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