rs3812316

This is a protein-altering variant in the MLXIPL gene.

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GWAS Catalog Trait Associations (70)

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

triglyceride 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 0.12

p —

N 1,320,016

Large GWAS

European

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

Allele C

OR 0.12

p 2.0e-97

N 115,082

Large GWAS

European

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.11

p 1.0e-23

N 107,786

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)

Allele C

OR 0.15

p 2.0e-10

N 13,814

Large GWAS

European

Kooner JS et al. “Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.” Nature Genetics 40(2):149-51 (2008)

Allele C

OR 10.50

p 1.0e-10

N 2,011

Large GWAS

multi-ancestry

triglycerides in medium VLDL measurement

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 0.12

p —

N 450,015

Large GWAS

multi-ancestry

polyunsaturated fatty acids to monounsaturated fatty acids ratio

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 0.11

p 1.0e-275

N 450,015

Large GWAS

multi-ancestry

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele G

OR —

p 2.0e-145

N 239,268

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 0.10

p 4.0e-51

N 88,268

Large GWAS

European

total lipids in large LDL

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 0.09

p 6.0e-196

N 450,015

Large GWAS

multi-ancestry

polyunsaturated fatty acids to total fatty acids 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 0.09

p 2.0e-182

N 450,015

Large GWAS

multi-ancestry

cholesteryl esters to total lipids in large LDL 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 0.09

p 2.0e-175

N 450,015

Large GWAS

multi-ancestry

saturated fatty acids measurement

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 0.08

p 3.0e-147

N 450,015

Large GWAS

multi-ancestry

low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio

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

Allele C

OR 0.14

p 5.0e-133

N 115,082

Large GWAS

European

triglyceride measurement, blood VLDL cholesterol amount

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

Allele C

OR 0.14

p 1.0e-127

N 115,082

Large GWAS

European

triglycerides in very large HDL measurement

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 0.07

p 2.0e-124

N 450,015

Large GWAS

multi-ancestry

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Research that mentions this SNP (2)

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Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke

ReviewGretarsdottir S. et al.(2008)· Annals of Neurology

This review examines 15 years of ischemic stroke susceptibility gene research, organized into three periods: early candidate gene studies (1985-1995) testing variants in hemostasis and homocysteine metabolism genes; expansion period with functional variants discovered from other diseases tested on larger stroke cohorts; and current GWAS-driven large-scale genotyping studies. Key findings include identification of susceptibility loci in CELSR1 (rs6007897, rs4044210 in Japanese populations), PITX2 (rs2200733, rs10033464), and other genes involved in lipid metabolism (APOA5, APOCIII, MLXIPL) and signal transduction (PDE4D, ALOX5AP), with evidence that alleles are often shared across diseases and that careful clinical stratification is critical.

Traits studied:Atrial fibrillationCardioembolic strokeCerebral artery diseaseIschemic strokeLarge-vessel atherosclerotic strokeMyocardial infarctionSmall-vessel occlusion strokeThromboembolismVenous thrombosis

PubMed DOI Metascience Observatory

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MLXIPL variant in individuals with low and high triglyceridemia in white population in Central Europe

AssociationN=2,471Michal Vrablik et al.(2008)· Human Genetics

This study examined the association between the MLXIPL rs3812316 variant (C771G, His241Gln) and plasma triglyceride (TG) levels in a Central European population. Comparing 162 individuals with high TG (>10 mmol/L), 266 with low TG (<0.65 mmol/L), and 2,043 population controls, the authors found a significant association between Gln allele carriers and lower TG levels (P=0.033), but no association with elevated TG or in the general population sample.

Traits studied:Triglyceride levels

PubMed DOI Metascience Observatory

About MLXIPL

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

rs3812316

GWAS Catalog Trait Associations (70)

triglyceride measurement

triglycerides in medium VLDL measurement

polyunsaturated fatty acids to monounsaturated fatty acids ratio

total lipids in large LDL

polyunsaturated fatty acids to total fatty acids percentage

cholesteryl esters to total lipids in large LDL percentage

saturated fatty acids measurement

low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio

triglyceride measurement, blood VLDL cholesterol amount

triglycerides in very large HDL measurement

Research that mentions this SNP (2)

About MLXIPL

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