rs116843064

This is a variant in the ANGPTL4 gene that changes a glutamate to an lysine.

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GWAS Catalog Trait Associations (207)

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

triglyceride:HDL cholesterol ratio

DeForest N et al. “Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy.” Nature Communications 15(1):8068 (2024)
Allele A
OR 0.25
p 1.0e-189
N 382,129
Large GWAS
European, African unspecified, East Asian, Asian unspecified, NR, Other
Oliveri A et al. “Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank.” Nature Genetics 56(2):212-221 (2024)
Allele A
OR 0.29
p 2.0e-100
N 185,749
Major Consortium StudyLarge GWAS
European

hematocrit

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.18
p 4.0e-178
N 394,642
Large GWAS
European

triglycerides to phosphoglycerides ratio

Yuan F et al. “Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses.” British Journal of Cancer 133(1):94-103 (2025)
Allele A
OR 0.26
p 3.0e-132
N 199,732
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.28
p 4.0e-69
N 88,268
Large GWAS
European

triglycerides in IDL measurement

Yuan F et al. “Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses.” British Journal of Cancer 133(1):94-103 (2025)
Allele A
OR 0.25
p 8.0e-108
N 199,732
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.15
p 2.0e-23
N 136,016
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.17
p 1.0e-25
N 88,329
Large GWAS
European

triglyceride measurement, phospholipid level

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 0.27
p 4.0e-87
N 115,006
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele G
OR 0.26
p 2.0e-62
N 136,016
Large GWAS
multi-ancestry

cholesterol:total lipids ratio, 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 0.28
p 1.0e-86
N 115,082
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele G
OR 0.12
p 4.0e-14
N 136,016
Large GWAS
multi-ancestry

triglycerides in small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.30
p 2.0e-80
N 136,016
Large GWAS
multi-ancestry
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.27
p 2.0e-60
N 88,329
Large GWAS
European

apolipoprotein A 1 measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele G
OR 0.13
p 7.0e-78
N 393,193
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.12
p 6.0e-70
N 394,642
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.15
p 6.0e-61
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele G
OR 0.15
p 6.0e-24
N 136,016
Large GWAS
multi-ancestry
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 0.16
p 2.0e-30
N 115,082
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.17
p 1.0e-26
N 88,329
Large GWAS
European
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ClinVar annotation

Association
1 submitter4 publications

Plasma triglyceride level quantitative trait locus (TGQTL)

View on ClinVar →

About ANGPTL4

This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]

View all ANGPTL4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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