ADAM10, ADAM metallopeptidase domain 10, 102

N. diseases: 224; N. variants: 27
Disease: Central neuroblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs514049
rs514049
Entrez Id: 102
Gene Symbol: ADAM10
ADAM10
CUI: C0700095
Disease:
Central neuroblastoma 		0.010 GeneticVariation BEFREE Results from this investigation suggest that the ADAM10 rs514049-rs653765 C-A promoter haplotype is associated with: (1) higher CSF sAPPα levels in cognitively normal controls compared with Alzheimer's disease (AD) patients, (2) higher postmortem brain hippocampus, but not cerebellum, ADAM10 protein levels in subjects with low plaque scores compared with those with high plaque scores, and (3) higher promoter activity for promoter-only reporter constructs compared with promoter 3' untranslated region (3'UTR) constructs in the human neuroblastoma SHSY5Y cell line, but not in HepG2 or U118 cell lines. 22572541 2012