APOB
Apolipoprotein B-100
Gene Number: 338
Location: 2p24.1
Key Functions: Cholesterol transport, lipid metabolism, LDL particle formation, cardiovascular health
APOB encodes apolipoprotein B, the primary structural protein of low-density lipoproteins (LDL) that carry cholesterol and other lipids through the bloodstream. It plays a central role in lipid metabolism, LDL receptor binding, and the regulation of plasma cholesterol levels.
Mutations or dysfunction in APOB can lead to elevated LDL cholesterol levels and increased risk of atherosclerosis and cardiovascular disease. Proper APOB function is critical for maintaining lipid balance and vascular health.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs693 | No matching variant or no valid DNA data | A | No interpretation available |
rs1042031 | No matching variant or no valid DNA data | T | No interpretation available |
rs1367117 | No matching variant or no valid DNA data | A | No interpretation available |
rs5742904 | No matching variant or no valid DNA data | T | No interpretation available |
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.
rs1367117
AA – Linked to slightly higher LDL cholesterol and increased cardiovascular risk (R).
AG – Intermediate profile (R).
GG – Normal lipid metabolism (R).
Functional effect: A allele associated with altered lipid metabolism.
rs5742904
TT – Pathogenic variant linked to familial hypobetalipoproteinemia (R).
TC – Carrier; may have reduced LDL cholesterol (R).
CC – Normal LDL metabolism (R).
Functional effect: T allele carriers have low LDL cholesterol but may have fat malabsorption issues.
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