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Exome-wide rare loss-of-function variant enrichment study of 21,347 Han Chinese individuals identifies four susceptibility genes for psoriasis.
J Invest Dermatol ; 2019 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-31376382
ABSTRACT
Most psoriasis-related genes or loci identified by genome-wide association studies (GWASs) represent common clusters and are located in noncoding regions of the human genome, providing only limited evidence for the roles of rare coding variants in psoriasis. Two exome-wide case-control genotyping data sets (11,245 cases and 11,177 controls) were obtained from our previous study. Quality controls were established for each data set, and the markers remaining in each set were annotated using ANNOVAR. Gene-based analysis was performed on the annotation results. A total of 250 and 35 genes in the Exome_Fine and Exome_Asian array cohorts, respectively, exceeded the threshold (P < 4.43 × 10-6). Merged gene-based analysis was then conducted on the same set of SNPs from seven genes common to both arrays, and the chi-square test was used to confirm all gene-based results. Ultimately, four susceptibility genes were identified: BBS7 (Pcombine = 1.38 × 10-29), GSTCD (Pcombine = 8.35 × 10-47), LIPK (Pcombine = 1.02 × 10-19) and PPP4R3B (Pcombine = 1.79 × 10-33). To our knowledge, this study identified four previously unreported susceptibility genes for psoriasis via a gene-based method using rare variants, contributing to our understanding of the pathogenesis of psoriasis.

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Idioma: Inglês Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: China