In:
The Journal of Dermatology, Wiley, Vol. 43, No. 11 ( 2016-11), p. 1307-1313
Kurzfassung:
Dermatomyositis ( DM ) is a polygenic disorder characterized by inflammation of skeletal muscle and skin. To date, the exact etiopathogenesis of DM remains elusive. To explore the genetic basis of DM , we conducted genome‐wide genotyping analysis of 127 patients and 1566 healthy controls by Illumina Human OmniZhongHua‐8 BeadChips in the Chinese Han population. We investigated whether the three SNP ( rs7750458 , rs9501251 and rs9500928 ) at 6p21.32 in the HLA ‐ DPB 1 gene were significantly associated with DM ( P 〈 5 × 10 −8 ) and identified two susceptibility loci at 7q34 ( PIP , rs9986765 , P = 7.45 × 10 −7 , odds ratio [ OR ] = 2.71) and 10q24.2 ( CPN 1 , rs3750716 , P = 9.04 × 10 −7 , OR = 4.39) with suggestive evidence. We imputed 6674 classical human leukocyte antigen ( HLA ) alleles, amino acids and SNP from the discovery dataset, and stepwise analysis revealed that HLA ‐ DPB 1*17 in class II HLA genes were significantly associated with DM susceptibility. This study represents the first genome‐wide association study ( GWAS ) of DM in the Chinese Han population. For the first time, HLA ‐ DPB 1 was found to be associated with DM in this population. Moreover, we identified two novel suggestive susceptibility loci ( PIP and CPN 1 ) and confirmed four previously reported genes ( DMB , DQA 1 , DQB 1 and DRB 1 ) having potential associations with DM in the Chinese Han population. Our GWAS results in this population should provide important information regarding the genetic etiopathogenesis of DM and facilitate the development of new therapies for the treatment of DM and the prevention of DM progression.
Materialart:
Online-Ressource
ISSN:
0385-2407
,
1346-8138
DOI:
10.1111/jde.2016.43.issue-11
DOI:
10.1111/1346-8138.13397
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2016
ZDB Id:
2222121-9
Permalink