Title
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Follow-up study of the first genome-wide association scan in alopecia areata : IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance
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Author
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Abstract
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Recently, the first genome-wide association study (GWAS) of alopecia areata (AA) was conducted in a North-American sample, and this identified eight susceptibility loci surpassing genome-wide significance. The aim of the present follow-up association analysis was to confirm five of these eight loci (single-nucleotide polymorphisms (SNPs) from the CTLA4, IL-2RA, and HLA regions were not included due to previous own findings) and test 12 other loci from the GWAS, which did not surpass the threshold for genome-wide significance. Twenty-three SNPs from the 17 loci were investigated using a sample of 1,702 Central European AA patients and 1,723 controls. Of the five loci with previously reported genome-wide significance, association was confirmed for all of these: ULBP3/ULBP6, PRDX5, IL-2/IL-21, STX17, and IKZF4/ERBB3 (P-value <0.05). To detect robust evidence for association among the 12 other loci, a meta-analysis of the present association data and the data of the recent GWAS was performed. Genome-wide significant association was found for rs20541 (Pcomb=7.52 × 10−10; odds ratio (OR)=1.30 (1.231.38)) and rs998592 (Pcomb=1.11 × 10−11; OR=1.28 (1.211.36)), thus establishing IL-13 and KIAA0350/CLEC16A as susceptibility loci for AA. Interestingly, IL-13 and KIAA0350/CLEC16A are susceptibility loci for other autoimmune diseases, supporting the hypothesis of shared pathways of autoimmune susceptibility. |
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Language
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English
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Source (journal)
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The journal of investigative dermatology. - Baltimore, Md
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Publication
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Baltimore, Md
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2012
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ISSN
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0022-202X
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DOI
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10.1038/JID.2012.129
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Volume/pages
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132
:9
(2012)
, p. 2192-2197
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ISI
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000307803800013
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Full text (Publisher's DOI)
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