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Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

APOB

Apolipoprotein B

CHR 2
2p24.1

Overview

APOB encodes apolipoprotein B, the main protein of LDL particles (Low-Density Lipoprotein). It is crucial for transporting cholesterol to cells but is considered a primary cause of vascular calcification at high levels.

📍 Chromosomal Position

2p24.1 (Chromosome 2)

🧬 Gene Category

Metabolism

🔬 Inheritance

Complex

📊 Prevalence

T allele ~25-35%

Function & Significance

APOB is the ‘identity card’ of LDL particles:

  • Lipid Transport: It enables particles to move through the blood and distribute cholesterol.
  • Receptor Binding: Cells recognize APOB and take up the LDL particle to utilize the cholesterol.
  • Atherogenicity: If too many APOB particles are in the blood (especially ‘small dense LDL’), they can penetrate vessel walls, triggering inflammation and plaque formation (atherosclerosis).

⚠️ Why APOB is more informative than LDL

An LDL laboratory value only measures the *amount* of cholesterol. APOB measures the *number* of dangerous particles. Since each LDL particle carries exactly one APOB molecule, the APOB value is often a more precise indicator of true cardiovascular risk.

🧬 Relevant SNPs

The XbaI polymorphism (rs693):

rs693
2:21044037
Allele 1

C

/

Allele 2

T

Significance: rs693 (C>T) – A variant associated with the efficiency of LDL clearance from the blood.

CC (Wild type): Normal APOB and LDL values.

TT / CT: T-allele carriers statistically tend to have higher APOB and LDL cholesterol levels.

🛑 Cardiovascular Risk

Studies have shown that carriers of the T allele may have a moderately increased risk of coronary heart disease if blood lipid levels are not kept under control through diet or medication.

📚 Data Sources

  • OMIM: #107730 – Online Mendelian Inheritance in Man
  • dbSNP: rs693 – SNP Database (NCBI)
  • Arteriosclerosis, Thrombosis, and Vascular Biology: APOB and Atherosclerosis
  • European Heart Journal: Lipid management guidelines

Last Update: February 2026

Biological Function

Apolipoprotein B is the primary protein component of chylomicrons, VLDL, and LDL particles. It acts as a ligand for the LDL receptor, enabling cholesterol uptake into cells. High levels of APOB-containing particles (especially LDL) are a major risk factor for atherosclerosis.

Associated Conditions

Familial Hypercholesterolemia Abetalipoproteinemia Coronary Heart Disease Stroke
Molecular Analysis

Analyzed Markers

rs693 Risk Factor
Pos: 2:21044037 | Alleles: C/T

XbaI Polymorphism - T-allele: Associated with higher APOB levels, higher LDL values, and increased risk for cardiovascular diseases.