rs1042034
This is a variant in the APOB gene that changes a serine to an asparagine.
▶GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
triglycerides:total lipids ratio, blood VLDL cholesterol amount
cholesterol:total lipids ratio, blood VLDL cholesterol amount
cholesteryl esters:total lipids ratio, blood VLDL cholesterol amount
non-alcoholic fatty liver disease
phospholipids in very large HDL measurement
triglycerides in medium HDL measurement
triglycerides in small HDL measurement
free cholesterol:total lipids ratio, blood VLDL cholesterol amount
concentration of very large HDL particles measurement
▶ClinVar annotation
Cardiovascular phenotype; Familial hypercholesterolemia; Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, type B (FHCL2); Hypercholesterolemia, familial, 1; Warfarin response; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell diseaseAssociationN=856Xu Zhang et al.(2015)· Human Genetics
This GWAS meta-analysis of 856 sickle cell disease (SCD) adults identified rs59014890 in APOB as associated with diabetes risk (P=3.2×10−8, OR=17-18), where the C allele paradoxically decreased APOB expression in peripheral blood mononuclear cells but increased diabetes risk. The association was validated in adolescent SCD patients for overweight status and in African Americans ≥45 years with BMI >25 kg/m² for diabetes risk, demonstrating a gene-by-environment interaction. Lower APOB expression also correlated with elevated hemoglobin A1C and serum lipids in Chuvash polycythemia patients.
About APOB
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]
View all APOB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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