rs414580
This variant is located in the MSR1 gene.
▶Research that mentions this SNP (1)
▶Focused screening of a panel of cancer‐related genetic polymorphisms reveals new susceptibility loci for pediatric acute lymphoblastic leukemiaAssociationN=1,495Sonja Offenmüller et al.(2014)· Pediatric Blood & Cancer
A candidate gene association study screening 1,421 SNPs in 407 cancer-related genes identified two novel susceptibility loci for childhood B-precursor acute lymphoblastic leukemia: rs6966 in PPP1R13L/ERCC2 region (OR=3.74, 95% CI 2.31-6.04, p=4.55×10⁻⁹) and rs414580 in MSR1 (OR=3.93, 95% CI 2.31-6.69, p=6.09×10⁻⁸). A third SNP, rs11762213 in MET, showed borderline significance (p=2.97×10⁻²).
About MSR1
This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
View all MSR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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