Genetic Archaeology

GENETIC ARCHAEOLOGY // PROFILE

LDLR

Low-Density Lipoprotein Receptor

CHR 19

Overview

LDLR removes LDL particles from the blood. Defects lead to extremely high cholesterol levels and premature heart attack.

📍 Chromosome

19p13.2 (Chromosome 19)

🧬 Category

Metabolism

🔬 Inheritance

Autosomal dominant

📊 Prevalence

1:250 (Heterozygous)

Associated Diseases

❤️ Familial Hypercholesterolemia

Greatly increased risk for premature CHD and heart attack.
❤️ Xanthomas

Cholesterol deposits on tendons and skin.

🧬 Relevant SNPs

rs28942080
19:11091630

Ref

G

/

Alt

A

Significance: Common FH mutation (p.Asp206Glu). Reduces receptor activity.

rs137929307
19:11105308

Ref

G

/

Alt

C

Significance: FH North Karelia variant. Leads to severe clinical courses.

⚕️ Clinical Management

Early use of statins and ezetimibe. PCSK9 inhibitors for high-risk patients.

📚 Data Sources

Source: OMIM: #606945
Source: dbSNP: rs28942080
Source: ESC/EAS Guidelines

← Back to Overview

Biological Function

LDLR binds and internalizes LDL cholesterol in liver cells. Defects lead to severely elevated LDL cholesterol levels in the blood.

Associated Conditions

Familial Hypercholesterolemia (FH) Homozygous Familial Hypercholesterolemia Premature Coronary Heart Disease Xanthomas

Molecular Analysis

Analyzed Markers

ID Unknown Pathogenic

                                Pos: chr19:11091630 |
                                Alleles: -/-                            

Asp206Glu - Pathogenic for FH. Reduced LDL receptor activity (~50%).

ID Unknown Pathogenic

                                Pos: chr19:11105308 |
                                Alleles: -/-                            

Trp556Ser (FH North Karelia) - Pathogenic for FH. Founder mutation in Finland. Severe hypercholesterolemia.