rs3752228
This is a regulatory region variant variant in the ABCA7 gene.
▶Research that mentions this SNP (1)
▶Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African AmericansAssociationN=5,896Reitz C. et al.(2013)· JAMA
This GWAS meta-analysis in 5,896 African Americans (1,968 cases, 3,928 controls) identified rs115550680 in ABCA7 as significantly associated with late-onset Alzheimer disease (AD) (OR=1.79, 95% CI 1.47-2.12, P=2.2×10⁻⁹), with effect size comparable to APOE ε4 (rs429358, OR=2.31, P=5.5×10⁻⁴⁷). Additional AD-associated loci identified in African Americans included variants in CR1, BIN1, EPHA1, and CD33, some differing from European ancestry findings.
About ABCA7
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
View all ABCA7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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