rs2305421

This is a regulatory region variant variant in the ADAM10 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
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Research that mentions this SNP (1)

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Cerebrospinal fluid Aβ42 levels and APP processing pathway genes in Parkinson's disease
AssociationN=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.

Traits studied:Cerebrospinal fluid amyloid-beta 42 levelsCognitive impairmentParkinson's disease
PubMedDOIMetascience Observatory

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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