rs1800433
This is a variant in the A2M gene that changes a cysteine to an tyrosine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3AssociationN=5,270Todd L. Edwards et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Association analysis of Alzheimer disease candidate genes in 738 families (4704 individuals) and 296 cases/566 controls detected significant haplotype effects in ACE gene (p=0.0004 family, p=0.029 case-control) and putative multilocus associations between ACE, A2M, and LRRTM3 (p<0.001 MDR-PDT). ACE ancestral haplotypes show consistent replication across independent samples with attributable risk explaining ~8-16% of LOAD cases.
About A2M
The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]
View all A2M variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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