rs429358(APOE)

This is a variant in the APOE gene that changes a cysteine to an arginine.

Trait Associations

Trait	Risk Allele	OR	p-value	Evidence	Source
Alzheimer's Disease The C allele at rs429358 defines the APOE ε4 isoform, the strongest common genetic risk factor for late-onset Alzheimer's disease. Each copy of ε4 increases risk roughly 3-fold, with homozygous carriers facing up to 12-fold elevated risk. The ε4 isoform impairs amyloid-β clearance and promotes neuroinflammation.	C	3.20	1.0e-100	high	PubMed
Cardiovascular Disease Risk APOE ε4 carriers have elevated LDL cholesterol levels, increasing coronary artery disease risk by approximately 6% per allele.	C	1.06	5.0e-12	high	PubMed

Trait

Risk Allele

p-value

Evidence

Source

Alzheimer's Disease

The C allele at rs429358 defines the APOE ε4 isoform, the strongest common genetic risk factor for late-onset Alzheimer's disease. Each copy of ε4 increases risk roughly 3-fold, with homozygous carriers facing up to 12-fold elevated risk. The ε4 isoform impairs amyloid-β clearance and promotes neuroinflammation.

3.20

1.0e-100

high

PubMed

Cardiovascular Disease Risk

APOE ε4 carriers have elevated LDL cholesterol levels, increasing coronary artery disease risk by approximately 6% per allele.

1.06

5.0e-12

high

PubMed

ClinVar

Risk Factor

16 submitters

Alzheimer disease 2; not provided; Primary degenerative dementia of the Alzheimer type, presenile onset; Warfarin response; Alzheimer disease; Lipoprotein glomerulopathy; Alzheimer disease 4; not specified

View on ClinVar →

Included in Polygenic Scores

PGS000018—Coronary artery disease
PGS004228—Alzheimer's disease
PGS000039—Ischemic stroke

Gene information from NCBI Gene. Variant classifications from ClinVar.