rs10414043

This is a downstream gene variant variant in the APOC1 gene.

▶

GWAS Catalog Trait Associations (9)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Alzheimer disease, family history of Alzheimer’s disease

Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)

Allele A

OR —

p 8.0e-275

N 404,467

Large GWAS

multi-ancestry

Alzheimer disease

Allele A

OR —

p 4.0e-146

N 27,907

Large GWAS

European, African unspecified, Hispanic or Latin American, Asian unspecified, NR

serum alanine aminotransferase amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.03

p 5.0e-39

N 928,679

Large GWAS

multi-ancestry

cerebral amyloid deposition measurement

Yan Q et al. “Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.” Molecular Psychiatry 26(1):309-321 (2021)

Allele A

OR 0.15

p 2.0e-20

N 983

Small GWAS

European

phospholipid level, high density lipoprotein cholesterol measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele G

OR 0.04

p 6.0e-15

N 115,082

Large GWAS

European

HDL particle size

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele G

OR 0.04

p 9.0e-15

N 115,082

Large GWAS

European

amygdala volume

Mufford MS et al. “The Genetic Architecture of Amygdala Nuclei.” Biological Psychiatry 95(1):72-84 (2024)

Allele A

OR 23.15

p 2.0e-10

N 31,690

Large GWAS

European

metabolic syndrome

Kim YS et al. “Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study.” International Journal of Molecular Sciences 23(19) (2022)

Allele A

OR 1.20

p 4.0e-10

N 50,808

Large GWAS

East Asian

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)

Allele A

OR 0.10

p 6.0e-9

N 107,230

Large GWAS

East Asian

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele A

OR 0.19

p 2.0e-12

N 5,354

Large GWAS

European

About APOC1

This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]

rs10414043

GWAS Catalog Trait Associations (9)

Alzheimer disease, family history of Alzheimer’s disease

Alzheimer disease

serum alanine aminotransferase amount

cerebral amyloid deposition measurement

phospholipid level, high density lipoprotein cholesterol measurement

HDL particle size

amygdala volume

metabolic syndrome

blood protein amount

About APOC1

Community Wiki

Comments