Research — GeneOps

rs4240624 Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevating liver enzymes and raising the risk of non-alcoholic fatty liver disease and gallstones

Chromosome 8 Risk Allele G Category Liver Fat Tags Fat Metabolism, Liver Health, Triglycerides, Diet, Insulin, Metabolic Syndrome

Most people have never heard of glycogen as a liver health problem. Fat — specifically NAFLD() — gets all the attention. But for carriers of the rs4240624 G allele, the issue begins one step earlier in liver metabolism: the regulation of glycogen() synthesis. PPP1R3B encodes a regulatory subunit of protein...

rs10741657 Vitamin D activation — converts D3 to 25(OH)D in the liver

Chromosome 11 Risk Allele A Category Methylation & Detox Tags B Vitamins, Methylation, Diet, Vitamin D, Bone Health

CYP2R1 is a cytochrome P450 enzyme in the liver that performs the first hydroxylation step in vitamin D activation. It converts vitamin D3 | Cholecalciferol: the form of vitamin D produced in the skin from sunlight or taken as a supplement (cholecalciferol, from sun exposure or supplements) into 25-hydroxyvitamin D...

rs10954640 Intergenic variant near ENPP1-associated regulatory loci; T allele is associated with altered ENPP1 expression and modest modulation of insulin receptor signaling tone through regulatory network effects.

Chromosome 7 Risk Allele T Category Blood Sugar & Diabetes Tags Insulin Resistance, Diabetes, Metabolic Health, Energy Metabolism, Insulin, Fasting Glucose

The insulin system is not just controlled by receptors and hormones — it is also governed by the levels of the proteins that modulate those receptors. ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) is a well-established negative regulator of insulin receptor signaling: it physically binds the receptor's...

rs113809142 Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing haploinsufficiency of a key amyloid-clearance lipid transporter; one of the strongest non-APOE genetic risk factors for late-onset Alzheimer's disease

Chromosome 19 Risk Allele G Category Neurology & Cognition Tags Alzheimer's, Neurodegeneration, Lipid Metabolism, Cognitive Decline, Brain Health, RNA Splicing

ABCA7 (ATP-binding cassette sub-family A member 7) is a membrane-spanning lipid transporter expressed at its highest levels in neurons and microglia — exactly the cells responsible for managing amyloid-beta (Aβ) accumulation in the aging brain. The protein ferries phospholipids and cholesterol across cell membranes,...

rs11650354 Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T allele is associated with increased susceptibility to allergic asthma through reduced T-bet-driven Th1 immune tone and excess Th2 polarization

Chromosome 17 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Autoimmune, Inflammation, T-Cell Regulation, Immune Function, Lung Health

Inside every naive T cell, the T-bet transcription factor(https://pubmed.ncbi.nlm.nih.gov/12938094/) sets the immune system's allergic thermostat. When T-bet activity is high, CD4+ T cells commit to the Th1 path — mounting antiviral and antibacterial responses that suppress IgE production and eosinophil activation....

rs1175540 Intronic PPARG variant associated with differential weight loss response to caloric restriction and circulating vitamin D levels

Chromosome 3 Risk Allele A Category Fat Storage & Energy Tags Diabetes, Insulin, Fat Metabolism, Obesity, Vitamin D, Diet

Deep within an intron of the PPARG| Peroxisome Proliferator-Activated Receptor Gamma — the master transcription factor controlling adipocyte differentiation, lipid storage, and insulin sensitization gene sits a variant that quietly influences how well your body responds to caloric restriction and how efficiently it...

rs117648444 Missense variant in IFNL4 exon 2 that reduces IFN-λ4 protein activity; the Ser70 form (A allele) produces weaker antiviral signalling and is associated with better hepatitis C clearance among ΔG carriers

Chromosome 19 Risk Allele G Category Pharmacogenomics Tags Immune & Antiviral, Hepatitis C, Interferon, Viral Clearance, HCV Treatment, Innate Immunity

Within the IFNL4 gene on chromosome 19, the major functional switch for hepatitis C risk is the rs368234815 ΔG frameshift polymorphism(https://pubmed.ncbi.nlm.nih.gov/23291588/). But not all ΔG carriers face the same risk. A second coding variant in exon 2 — rs117648444, which swaps a proline for a serine at...

rs121918389 Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) that cannot be secreted as VLDL or LDL, causing familial hypobetalipoproteinemia with very low LDL cholesterol and hepatic steatosis

Chromosome 2 Risk Allele A Category Cholesterol & Lipoproteins Tags Cholesterol, Fat Metabolism, Cardiovascular, Diet, Triglycerides

Apolipoprotein B (apoB) is the indispensable structural protein of atherogenic lipoproteins — LDL, VLDL, and IDL. Every LDL particle contains exactly one molecule of apoB-100, a 4,536-amino-acid protein that serves both as the scaffolding for lipoprotein assembly in the liver and as the docking ligand for LDL...

rs12736689 Intronic/regulatory variant near RGS16 that is the strongest single-locus morningness GWAS hit (P=7.0×10⁻¹⁸); the C allele (~4% global frequency) is associated with earlier chronotype via RGS16-mediated cAMP gating in the suprachiasmatic nucleus

Chromosome 1 Risk Allele C Category Hormones & Sleep Tags Chronotype, Circadian, Sleep, Hormones, Brain Health

Inside the hypothalamus, a cluster of roughly 20,000 neurons called the suprachiasmatic nucleus (SCN)() fires in near-perfect 24-hour cycles, orchestrating sleep timing, hormone release, and metabolism. Keeping those neurons synchronized — not just cycling individually but entraining as a coherent population —...

rs128627256 Nonsense variant in dystrophin that eliminates full-length protein, causing X-linked dilated cardiomyopathy in males and significant carrier risk in females

Chromosome X Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Carrier Status, Genetic Counseling, Muscle, Inflammation

Dystrophin(https://pubmed.ncbi.nlm.nih.gov/26066469/) is the protein that keeps muscle fibres from tearing apart during every contraction. When full-length dystrophin is lost, the sarcolemma becomes fragile, membrane micro-ruptures accumulate with each heartbeat, and cardiomyocytes die faster than they can be...