APOB
Apolipoprotein B-100
Gene Number: 338
Location: 2p24.1
Key Functions: Cholesterol transport, lipid metabolism, LDL particle assembly, triglyceride export, cardiovascular regulation
APOB (apolipoprotein B) encodes the principal structural and functional protein component of low-density lipoproteins (LDL) and very-low-density lipoproteins (VLDL)—the main lipoprotein particles responsible for transporting cholesterol, triglycerides, and other lipids throughout the bloodstream. As such, APOB plays an indispensable role in lipid metabolism, cardiovascular health, and energy homeostasis.
There are two major isoforms of apolipoprotein B, produced through tissue-specific mRNA editing:
ApoB-100, synthesized in the liver, is the full-length form responsible for the assembly and secretion of VLDL, which later converts to LDL in the plasma. ApoB-100 contains the binding domain necessary for interaction with the LDL receptor (LDLR), facilitating cholesterol uptake by peripheral tissues.
ApoB-48, expressed in the intestine, is a truncated form that constitutes a key structural component of chylomicrons, the lipoproteins that transport dietary lipids from the gut to the bloodstream. ApoB-48 lacks the LDL receptor–binding domain and therefore functions solely in lipid absorption and delivery.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs693 | Analyze your DNA to see your genotype | A | Analyze your DNA to see a personalized result. |
rs1042031 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs693
AA – Associated with higher blood lipids; may slightly increase LDL cholesterol (R).
AG – Intermediate to higher blood lipids (R).
GG – Common genotype, typical lipid metabolism (R).
Functional effect: The A allele has been linked to small but significant changes in LDL cholesterol, and blood lipids levels.
rs1042031
TT – Associated with reduced LDL cholesterol levels in some populations (R).
TC – Intermediate cholesterol profile (R).
CC – Typical lipid levels (R).
Functional effect: The T allele may improve LDL receptor binding efficiency.
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