rs34062580

This is a intron variant variant in the MLXIPL gene.

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GWAS Catalog Trait Associations (29)

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

cholesterol:total lipids ratio, 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 G

OR 0.11

p 7.0e-79

N 114,160

Large GWAS

European

free cholesterol measurement, 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 0.10

p 4.0e-71

N 115,082

Large GWAS

European

free cholesterol:total lipids ratio, 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 G

OR 0.10

p 7.0e-70

N 114,160

Large GWAS

European

triglycerides:total lipids ratio, 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 G

OR 0.10

p 3.0e-67

N 114,160

Large GWAS

European

free cholesterol in very large HDL measurement

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 0.10

p 3.0e-53

N 88,329

Large GWAS

European

lipid measurement, 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 0.08

p 5.0e-48

N 115,082

Large 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 0.08

p 7.0e-48

N 115,082

Large GWAS

European

free cholesterol to total lipids in large HDL percentage

Allele A

OR 0.09

p 2.0e-43

N 88,329

Large GWAS

European

cholesterol in very large HDL measurement

Allele A

OR 0.09

p 4.0e-42

N 88,329

Large GWAS

European

cholesteryl ester measurement

Allele A

OR 0.08

p 4.0e-38

N 88,329

Large GWAS

European

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]

rs34062580

GWAS Catalog Trait Associations (29)

cholesterol:total lipids ratio, blood VLDL cholesterol amount

free cholesterol measurement, high density lipoprotein cholesterol measurement

free cholesterol:total lipids ratio, blood VLDL cholesterol amount

triglycerides:total lipids ratio, blood VLDL cholesterol amount

free cholesterol in very large HDL measurement

lipid measurement, high density lipoprotein cholesterol measurement

phospholipid level, high density lipoprotein cholesterol measurement

free cholesterol to total lipids in large HDL percentage

cholesterol in very large HDL measurement

cholesteryl ester measurement

About MLXIPL

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