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Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations
Uppsala University, Sweden.
Uppsala University, Sweden.
University of Helsinki, Finland.
Uppsala University, Sweden.
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2013 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 21, no 9, 994-999 p.Article in journal (Refereed) Published
Abstract [en]

Recent genome-wide association studies (GWASs) conducted in Asian populations have identified novel risk loci for systemic lupus erythematosus (SLE). Here, we genotyped 10 single-nucleotide polymorphisms (SNPs) in eight such loci and investigated their disease associations in three independent Caucasian SLE case–control cohorts recruited from Sweden, Finland and the United States. The disease associations of the SNPs in ETS1, IKZF1, LRRC18-WDFY4, RASGRP3, SLC15A4, TNIP1 and 16p11.2 were replicated, whereas no solid evidence of association was observed for the 7q11.23 locus in the Caucasian cohorts. SLC15A4 was significantly associated with renal involvement in SLE. The association of TNIP1 was more pronounced in SLE patients with renal and immunological disorder, which is corroborated by two previous studies in Asian cohorts. The effects of all the associated SNPs, either conferring risk for or being protective against SLE, were in the same direction in Caucasians and Asians. The magnitudes of the allelic effects for most of the SNPs were also comparable across different ethnic groups. On the contrary, remarkable differences in allele frequencies between Caucasian and Asian populations were observed for all associated SNPs. In conclusion, most of the novel SLE risk loci identified by GWASs in Asian populations were also associated with SLE in Caucasian populations. We observed both similarities and differences with respect to the effect sizes and risk allele frequencies across ethnicities.

Place, publisher, year, edition, pages
Nature Publishing Group: Open Access Hybrid Model Option B , 2013. Vol. 21, no 9, 994-999 p.
Keyword [en]
systemic lupus erythematosus, genetic-association study, Asian, Caucasian
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-97435DOI: 10.1038/ejhg.2012.277ISI: 000323281400016OAI: diva2:647894

Funding Agencies|Knut and Alice Wallenberg Foundation|2011.0073|Swedish Research Council for Medicine and Health|A0280001A0258801A80741201|Swedish Research Council for Science and Technology|90559401|Swedish Rheumatism Association||Ragnar Soderbergs Foundation||King Gustaf V 80-year Foundation||COMBINE, the Swedish Heart-Lung Foundation||Stockholm County Council||Karolinska Institutet (ALF)||Foundation in memory of Clas Groschinsky||Swedish Society of Medicine||Alliance for Lupus Research||Kirkland Scholar Award||NIH|AR044804AR02175AR052300M01 RR-000079|Uppsala University, Uppsala University Hospital||Swedish Council for Research Infrastructures|8057680170374401|

Available from: 2013-09-12 Created: 2013-09-12 Last updated: 2013-11-27

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Sjöwall, Christoffer
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RheumatologyFaculty of Health SciencesDepartment of Rheumatology
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