Nutrition & Metabolism

Main type 2 diabetes risk variant - strongly modulated by dietary fat

Second TCF7L2 diabetes variant - compounds risk with rs7903146

Insulin sensitivity - affects how well your cells respond to insulin

Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high saturated fat

APOE E2 variant - generally protective for cardiovascular health

Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA from plant sources

Triglyceride metabolism - affects fasting triglyceride levels and cardiovascular risk

Intestinal fat absorption - affects how efficiently you absorb dietary fat

Reduces beta-carotene conversion to vitamin A (retinol) by ~32% per T allele, contributing to "poor converter" status for plant-based vitamin A

Reduces beta-carotene to retinol (vitamin A) conversion efficiency, contributing to the "poor converter" phenotype

Alters vitamin D binding protein affinity, affecting total and bioavailable 25-hydroxyvitamin D levels

Vitamin D binding protein variant that determines VDBP isoform, affecting vitamin D transport, bioavailability, and supplementation response

Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is available for conversion to vitamin D3 in the skin

Vitamin D receptor start codon variant — determines receptor protein length and transcriptional activity

Determines secretor status — whether ABO blood group antigens are secreted into bodily fluids, affecting gut microbiome, vitamin B12 levels, and infection susceptibility

Transcobalamin II variant affecting cellular delivery of vitamin B12 via holotranscobalamin binding efficiency

Primary intestinal and renal vitamin C transporter — variant reduces ascorbate absorption and reabsorption efficiency

Regulates expression of the alpha-tocopherol transfer protein, the key determinant of circulating vitamin E levels

Master regulator of iron absorption via hepcidin control — the strongest common genetic determinant of iron status

Primary variant causing hereditary hemochromatosis type 1, disrupting iron regulation and hepcidin signaling

Second most common hereditary hemochromatosis variant, mildly increasing iron absorption and modestly raising iron stores

Zinc transporter 8 variant affecting zinc loading into insulin granules, influencing insulin crystallization, secretion, and type 2 diabetes risk

The most strongly replicated obesity-associated variant, affecting body weight through reduced adipocyte thermogenesis

Intergenic variant 188kb downstream of MC4R affecting appetite regulation, meal size, and obesity risk

Strongest genetic risk factor for non-alcoholic fatty liver disease, progression to cirrhosis, and hepatocellular carcinoma

Lipid transport variant that impairs VLDL secretion, creating a paradoxical trade-off between liver and heart health

Controls the pancreatic beta-cell potassium channel that regulates insulin secretion and determines sulfonylurea drug response

Regulates insulin signaling efficiency and cellular glucose uptake

Most common alpha-1 antitrypsin deficiency variant causing protein misfolding, lung disease, and liver disease

Intronic variant in SIRT1 affecting NAD-dependent deacetylase expression and oxidative stress protection

Promoter variant affecting adiponectin secretion and metabolic syndrome risk

Common leptin receptor variant affecting satiety signaling and metabolic health