rs11986414 - CLN8, KBTBD11-OT1

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide Association Study of N370S Homozygous Gaucher Disease Reveals the Candidacy of CLN8 gene as a Genetic Modifier Contributing to Extreme Phenotypic Variation - Unknown journal (n.d.) · Unknown authors · PubMed 22388998

  ABSTRACT: 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 hypothesized that modifier gene(s) underlie phenotypic diversity in GD and performed a GWAS study in Ashkenazi Jewish patients with type 1 GD (GD1), homozygous for N370S mutation. Patients were assigned to mild, moderate or severe disease category using composite disease severity scoring systems. Whole-genome genotyping for >500,000 SNPs was performed to search for associations using OQLS algorithm in 139 eligible patients. Several SNPs in linkage disequilibrium within the CLN8 gene locus were associated with the

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