rs514049
This is a regulatory region variant variant in the ADAM10 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Cerebrospinal fluid Aβ42 levels and APP processing pathway genes in Parkinson's diseaseAssociationN=246Lynn M. Bekris et al.(2015)· Movement Disorders
This case-control study examined genetic variation in APP processing pathway genes and their association with cerebrospinal fluid amyloid-beta 42 levels in Parkinson's disease patients (n=85) versus healthy controls (n=161). Two SNPs showed significant correlation with CSF Aβ42 in PD: APP rs466448 (lower levels, p=0.014) and APH1B rs2068143 (higher levels, p=0.002), while three SNPs correlated in controls: APP rs214484 and rs2040273, and PSEN1 rs362344 (all lower levels). Results suggest APP and APH1B genetic variants may modulate CSF Aβ42 levels in PD patients.
About ADAM10
Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]
View all ADAM10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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