rs1074532 - EPHA5-AS1 - RNU2-40P

Magnitude 4.5 · 1 study on file

Reported associations

• Investigation of the predisposing factor of pemphigus and its clinical subtype through a genome-wide association and next generation sequence analysis. - Journal of the European Academy of Dermatology and Venereology : JEADV (2019) · Sun Y, Liu H, Yang B, Wang C, Foo JN, Bao F, Irwanto A, Yu G, Fu X, Wang Z, You J, Liu J, Zhou G, Liu J, Zhang F · PubMed 30169916

  Pemphigus is an autoimmune blistering disease with pemphigus vulgaris (PV) and foliaceus (PF) as the two major histological subtypes. Associations with HLA molecules have been suggested, but specific HLA risk variants as well as non-HLA risk variants remain to be discovered. We performed a two-stage genome-wide association study in the Chinese Han population through a genome-wide discovery analysis and follow-up validation analysis in a total number of 210 PV, 159 PF and 2493 healthy controls. HLA imputation as well as high coverage next generation sequencing based HLA genotyping was employed to investigate the association of classical HLA alleles and amino acid change. We have discovered independent novel associations with PF at rs2178077 on 12q24.33, located next to RAN (P = 1.57 × 10 )

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