rs2338104

This is a downstream gene variant variant in the KCTD10 gene.

▶

GWAS Catalog Trait Associations (5)

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

high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.03
p 2.0e-55
N 1,320,016
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 1.0e-13
N 136,016
Large GWAS
multi-ancestry
Kathiresan S et al. “Common variants at 30 loci contribute to polygenic dyslipidemia.” Nature Genetics 41(1):56-65 (2009)
Allele C
OR 0.07
p 1.0e-10
N 19,840
Large GWAS
European
Willer CJ et al. “Newly identified loci that influence lipid concentrations and risk of coronary artery disease.” Nature Genetics 40(2):161-9 (2008)
Allele C
OR 0.48
p 3.0e-8
N 8,656
Large GWAS
European

free cholesterol to total lipids in large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 7.0e-21
N 450,015
Large GWAS
multi-ancestry

total lipids in large HDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 2.0e-13
N 136,016
Large GWAS
multi-ancestry

phospholipids in large HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 7.0e-13
N 136,016
Large GWAS
multi-ancestry

total cholesterol measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 2.0e-12
N 136,016
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
AssociationN=5,576Logan Dumitrescu et al.(2012)· Human Genetics

This study investigated gene-environment interactions between 23 GWAS-identified lipid-associated SNPs and serum vitamins A and E in the National Health and Nutrition Examination Surveys (NHANES), including 5,576 participants across three racial/ethnic groups. Nine significant interactions were identified, with the most significant being APOB rs693×vitamin E associated with LDL-C in Mexican Americans (p=8.94×10⁻⁷). These nine interactions explained only 0.35-1.28% of variation in lipid traits, suggesting that gene-environment interactions account for modest proportions of the missing heritability in lipid metabolism.

Traits studied:HDL-C (High-Density Lipoprotein Cholesterol)LDL-C (Low-Density Lipoprotein Cholesterol)Triglycerides
PubMedDOIMetascience Observatory

About KCTD10

The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

View all KCTD10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…