Article
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
American journal of hematology - 1 Apr 2012
Zhang Clarence K, Stein Philip B, Liu Jun, Wang Zuoheng, Yang Ruhua, Cho Judy H, Gregersen Peter K, Aerts Johannes M F G, Zhao Hongyu, Pastores Gregory M, Mistry Pramod K
Abstract excerpt
Mutations in GBA1 gene result in defective acid β-glucosidase and the complex phenotype of Gaucher disease (GD) related to the accumulation of glucosylceramide-laden macrophages. The phenotype is highly variable even among patients harboring identical GBA1 mutations. We hypothesize that modifier gene(s) underlie phenotypic diversity in GD and performed a GWAS study in Ashkenazi Jewish patients with type 1 GD...
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