rs1292037
This is a regulatory region variant variant in the VMP1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
phospholipids in very large HDL measurement
cholesterol in large HDL measurement
cholesteryl esters in large HDL measurement
▶Research that mentions this SNP (3)
▶A functional polymorphism in MIR196A2 is associated with risk and prognosis of gastric cancerReviewShizhi Wang et al.(2013)· Molecular Carcinogenesis
This comprehensive review analyzes microRNA-related single nucleotide polymorphisms (SNPs) in gastric cancer, focusing on the most commonly studied variants including pre-miR-146a rs2910164, pre-miR-196a2 rs11614913, pre-miR-149 rs2292832, and pre-miR-499 rs3746444. The paper reviews 45 studies examining associations between miRNA polymorphisms and gastric cancer risk, including 18 studies on rs2910164 showing conflicting results (OR range 0.81-1.58), 13 studies on rs11614913 with no overall significant association, and analysis of pri-miRNA, pre-miRNA, promoter, and 3'-UTR variants. Additional variants identified include rs712 in let-7 (OR = 3.05; 95% CI = 1.53-6.08), rs12904 in miR-200c (OR = 0.65; 95% CI = 0.50-0.85), and rs12537 in miR-181a (OR = 1.72; 95% CI = 1.36-2.16).
▶Evaluation of SNPs inmiR-146a,miR196a2andmiR-499as low-penetrance alleles in German and Italian familial breast cancer casesAssociationN=1,800Irene Catucci et al.(2010)· Human Mutation
This PhD thesis presents a comprehensive study of microRNA (miRNA) SNPs and their association with breast cancer risk in Australian Caucasian populations. The study identified three key findings: rs2910164 in MIR146A showed significant association (p=0.03 and p=0.00013 in two populations); rs353291 in MIR145 showed significant differences in allele frequencies (p=0.041 and p=0.023); and rs4284505/rs7336610 in the MIR17HG cluster showed significant association with protective effect (OR=0.75, 95% CI: 0.60-0.94, p=0.012).
▶Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high‐risk womenAssociationN=1,425Tair Kontorovich et al.(2010)· International Journal of Cancer
This PhD thesis presents three case-control association studies of microRNA SNPs in Australian Caucasian breast cancer populations. Study 1 found rs2910164 (MIR146A) significantly associated with sporadic breast cancer risk (OR: 1.774; 95% CI: 1.402-2.237; p=0.000001 combined). Study 2 identified rs353291 (MIR145) as associated with breast cancer (allelic p=0.041 GRC-BC, p=0.023 GU-CCQ BB; OR: 1.37 and 1.25 respectively). Study 3 found rs4284505 (MIR17HG) associated with reduced breast cancer risk (p=0.01 GRC-BC, p=0.03 GU-CCQ BB; OR: 0.70 and 0.79), with the rs4284505/rs7336610 haplotype AC conferring 25% reduced risk (OR: 0.75; 95% CI: 0.60-0.94; p=0.012).
About VMP1
This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]
View all VMP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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