rs4938369
This is a upstream gene variant variant in the BACE1 gene.
▶Research that mentions this SNP (1)
▶Promoter polymorphisms which modulate BACE1 expression are associated with sporadic Alzheimer's diseaseAssociationN=775Shan Wang et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A case-control study of 429 Han Chinese Alzheimer's disease patients and 346 controls identified two BACE1 promoter polymorphisms (rs4938369 and rs3017608). The -918G allele (rs4938369) was significantly associated with sporadic AD risk (OR=1.667, P=0.019), with GG carriers having a 1.67-fold higher risk. The -918G/-2014T haplotype was also identified as a risk factor (P=0.016). Functional assays demonstrated that the -918G allele and the risk haplotype showed increased BACE1 transcriptional activity, particularly under hypoxia.
About BACE1
This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]
View all BACE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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