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Association between genetic variants in the tumour necrosis factor/lymphotoxin alpha/lymphotoxin beta locus and primary Sjogrens syndrome in Scandinavian samples
University of Bergen.
University of Bergen.
Uppsala University.
Uppsala University.
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2012 (English)In: Annals of the Rheumatic Diseases, ISSN 0003-4967, E-ISSN 1468-2060, Vol. 71, no 6, 981-988 p.Article in journal (Refereed) Published
Abstract [en]

Objectives Lymphotoxin beta (LTB) has been found to be upregulated in salivary glands of patients with primary Sjogrens syndrome (pSS). An animal model of pSS also showed ablation of the lymphoid organisation and a marked improvement in salivary gland function on blocking the LTB receptor pathway. This study aimed to investigate whether single-nucleotide polymorphisms (SNP) in the lymphotoxin alpha (LTA)/LTB/tumour necrosis factor (TNF) gene clusters are associated with pSS. less thanbrgreater than less thanbrgreater thanMethods 527 pSS patients and 532 controls participated in the study, all of Caucasian origin from Sweden and Norway. 14 SNP markers were genotyped and after quality control filtering, 12 SNP were analysed for their association with pSS using single marker and haplotype tests, and corrected by permutation testing. less thanbrgreater than less thanbrgreater thanResults Nine markers showed significant association with pSS at the p=0.05 level. Markers rs1800629 and rs909253 showed the strongest genotype association (p=1.64E-11 and p=4.42E-08, respectively, after correcting for sex and country of origin). When the analysis was conditioned for the effect of rs1800629, only the association with rs909253 remained nominally significant (p=0.027). In haplotype analyses the strongest effect was observed for the haplotype rs909253G_rs1800629A (p=9.14E-17). The associations were mainly due to anti-Ro/SSA and anti-La/SSB antibody-positive pSS. less thanbrgreater than less thanbrgreater thanConclusions A strong association was found between several SNP in the LTA/LTB/TNF alpha locus and pSS, some of which led to amino acid changes. These data suggest a role for this locus in the development of pSS. Further studies are needed to examine if the genetic effect described here is independent of the known genetic association between HLA and pSS.

Place, publisher, year, edition, pages
BMJ Publishing Group , 2012. Vol. 71, no 6, 981-988 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-77855DOI: 10.1136/annrheumdis-2011-200446ISI: 000303756400033OAI: diva2:529732
Funding Agencies|Western Norway Regional Health Authority||Research Council of Norway||Strategic Research Program at Helse Bergen||Broegelmann Foundation||University of Bergen||Bergens forskningsstiftelse||Swedish Research Council||Stockholm County Council||Goran Gustafsson Foundation||Torsten and Ragnar Soderberg Foundation||King Gustaf the Vth 80-year Foundation||Anna-Greta Crafoord Foundation||Malmo University Hospital Cancer Research Foundation||Vinnova||Vardalstiftelsen||Swedish Foundation for Strategic Research||Swedish Rheumatism Association||Invest in Sweden Agency||KK-stiftelsen||Available from: 2012-05-31 Created: 2012-05-31 Last updated: 2013-10-25

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Sjöwall, ChristofferEriksson, Per
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RheumatologyFaculty of Health SciencesDepartment of Rheumatology in ÖstergötlandDepartment of Nephrology UHL
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Annals of the Rheumatic Diseases
Medical and Health Sciences

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