Table 1.
MR associations
| Protein | Function | Association |
|---|---|---|
| ANGPTL7 | Angiopoietin-related protein 7: formation and organization of extracellular matrix. Negative regulator of angiogenesis in cornea. Plays role in maintaining corneal avascularity and transparency | ↓Age at menopause, ↓BMI, ↓HDL, ↑Type II diabetes, ↑WHR |
| SEMA3F | Semaphorin-3F: involved in cell signaling | ↓Alcohol use disorder, ↓BMI, ↓Problematic alcohol use, ↑WHR, ↑Inflammatory bowel disease, ↑Type II diabetes |
| ARG1 | Arginase-1: enzyme in urea cycle converting L-arginine to urea and L-ornithine | ↓BMI, ↑GFR, ↓Type II Diabetes |
| NTPROBNP | Natriuretic peptides B: hormone plays a role in mediating extracellular fluid volume and cardio-renal homeostasis | ↑BMI, ↑VTE |
| NECTIN2 | Nectin-2: modulator of T-cell signaling | ↓CAD, ↓LDL, ↓Total cholesterol, ↑HDL |
| CD79B | B-cell antigen receptor complex-associated protein beta chain: involved in signal cascade activated by B-cell antigen receptor complex | ↑HDL, ↑Rheumatoid arthritis, ↑WHR |
| RTN4R | Reticulon-4 receptor: receptor for several ligands | ↓Pulse pressure, ↓Systolic blood pressure |
| DDC | Aromatic-l-amino-acid decarboxylase: enzyme that catalyzes the conversion of l-3,4-dihydroxyphenylalanine (DOPA) to dopamine, l-5-hydroxytryptophan to serotonin and l-tryptophan to tryptamine | ↓Type I diabetes |
| TYRO3 | Tyrosine-protein kinase receptor: receptor tyrosine kinase that transduces signal from extracellular matrix to cytoplasm, binds several different ligands | ↑Type II diabetes |
| FAM3C | Family with sequence similarity 3 member C: possible involvement in retinal laminar formation. Promotes epithelial to mesenchymal transition | ↓WHR |
| TSHB | Thyrotropin subunit beta: subunit of hormone mediating thyroid function | ↓Atrial fibrillation |
| ENTPD5 | Ectonucleoside triphosphate diphosphohydrolase 5: a Uridine diphosphatase involved in protein N-glycosylation and ATP regulation | ↓Type 1 diabetes, ↑Inflammatory bowel disease |
| CD1C | T-cell surface glycoprotein CD1c: protein presents to antigens to T-cell receptors on natural killer T-cells | ↑Inflammatory bowel disease |
| TYMP | Thymidine phosphorylase: catalyzes the reversible phosphorolysis of thymidine | ↑Inflammatory bowel disease, ↑Total cholesterol, ↓Prostate cancer |
| ITGB7 | Integrin beta-7: adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue | ↓Total cholesterol |
| NOMO1 | Nodal modulator 1: involved in membrane protein transport into the endoplasmic reticulum | ↑LDL, ↑Total cholesterol |
| ADGRE2 | Adhesion G protein-coupled receptor E2: cell surface receptor, promotes cell attachment, granulocyte chemotaxis, degranulation, and adhesion | ↓Total cholesterol |
| COMT | Catechol O-methyltransferase: enzyme that catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones | ↓Type II diabetes |
Each protein and the significant associations through Mendelian randomization. Up arrow indicates that an increased amount of the protein is associated with an increased or higher value of the outcome (e.g. increasing ANGPTL7 is associated with a decreased BMI). All instruments are cis except for those associations indicated by bold font
BMI body mass index, HDL high density lipoprotein, LDL low density lipoprotein, VTE venous thrombus embolism, WHR waist hip ratio