Research — GeneOps

rs78060698 Intronic regulatory variant in FUT6 that alters HNF4α binding and fucosyltransferase expression, influencing intestinal fucosylation and circulating vitamin B12 levels — especially relevant in South Asian populations

Chromosome 19 Risk Allele G Category Vitamins & Nutrient Absorption Tags B Vitamins, Vitamin B12, Microbiome, Gut Microbiome, Methylation

Deep in the cells lining your small intestine, a family of enzymes called fucosyltransferases are quietly sculpting the sugar coat on your cell surfaces. These glycan structures — chains of modified sugars attached to proteins — determine which microbes can colonize your gut, how nutrients move across the intestinal...

rs9594759 Regulatory variant in the RANKL gene affecting bone mineral density and osteoporotic fracture risk

Chromosome 13 Risk Allele T Category Fitness & Body Tags Bone & Joint, Cardiovascular, Calcium, Vitamin D

Your TNFSF11 gene encodes RANKL (receptor activator of nuclear factor kappa-B ligand(https://pubmed.ncbi.nlm.nih.gov/26332516/)), a cytokine that tells your body when to break down old bone through osteoclast activation. This particular variant lies in a regulatory region upstream of the RANKL...

rs2069705 Upstream regulatory variant ~1,616 bp before the IFNG transcription start site that modulates IFN-gamma expression; the G allele (coding C) is associated with reduced Th1-mediated IFN-gamma output, favouring a Th2-skewed immune balance that increases susceptibility to atopic disease, while the A allele (coding T) supports robust STAT4-driven IFN-gamma transcription and a more Th1-balanced immune response.

Chromosome 12 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, T-Cell Regulation, Immune Response, Inflammation, Interferon, Autoimmune

IFN-gamma(https://pubmed.ncbi.nlm.nih.gov/19639725/) is the cornerstone of type 1 adaptive immunity. When IFN-gamma production is robust, T cells preferentially differentiate into the Th1 lineage, suppressing the IgE-producing, eosinophil-recruiting Th2 responses that underlie atopic dermatitis, allergic rhinitis,...

rs2236225 Folate processing enzyme — reduced stability increases choline need

Chromosome 14 Risk Allele A Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Diet

MTHFD1 (methylenetetrahydrofolate dehydrogenase 1) is a trifunctional enzyme that processes dietary folates through three sequential reactions. It plays a central role in one-carbon metabolism | One-carbon metabolism: a network of folate-dependent reactions that shuttle single carbon units for DNA synthesis and...

rs2523506 Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) that reduces DDX39B translation, impairing IL7R exon 6 inclusion and increasing soluble IL7R — the strongest known epistatic interaction in MS genetics

Chromosome 6 Risk Allele T Category Neurology & Cognition Tags Immune & Autoimmune, Multiple Sclerosis, RNA Splicing, T-Cell Regulation, Autoimmunity

Deep in the MHC class III region on chromosome 6, the gene DDX39B (also known as BAT1) encodes an RNA helicase with a central role in mRNA export, pre-mRNA splicing, and nuclear export of immune transcripts. A 2017 landmark study in Cell established that a regulatory variant at rs2523506 reduces DDX39B protein...

rs28399444 CYP2A6*7 missense variant that nearly abolishes nicotine C-oxidase activity; prevalent in East Asian populations and affects nicotine metabolism, smoking behavior, and several drug clearance pathways

Chromosome 19 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Smoking, Smoking Related, Ancestry-Specific, Cancer Treatment

CYP2A6(https://pubmed.ncbi.nlm.nih.gov/19169923/) is responsible for approximately 80–90% of nicotine's metabolic clearance. The CYP2A67 allele carries a missense mutation — isoleucine to threonine at codon 471 — that produces a dramatically unstable enzyme with near-zero nicotine-metabolizing activity. While this...

rs367643250 Rare gain-of-function variant causing autosomal dominant metabolic syndrome (AOMS3) — early-onset central obesity, insulin resistance, hypertriglyceridemia, and type 2 diabetes

Chromosome 19 Risk Allele A Category Blood Sugar & Diabetes Tags Metabolic Syndrome, Obesity, Insulin Resistance, Adipogenesis, Diabetes, Cardiovascular

DYRK1B| Dual-specificity tyrosine-phosphorylation-regulated kinase 1B — a serine/threonine kinase that regulates cell cycle exit, quiescence, and differentiation sits at a cellular crossroads: it puts dividing cells to sleep and shepherds them toward differentiated fates. In fat tissue, this means steering precursor...

rs3816183 Missense variant in the kynurenine pathway enzyme HAAO that shifts tryptophan flux toward quinolinic acid, a neurotoxic NMDA agonist, increasing insomnia risk

Chromosome 2 Risk Allele T Category Hormones & Sleep Tags Sleep, NAD+ Metabolism, Neuroinflammation, Serotonin, Melatonin, Inflammation

Your body uses the amino acid tryptophan three ways: to make serotonin and melatonin (the sleep hormones), to fuel energy metabolism as NAD+, and — when inflammation is present — to produce quinolinic acid, a potent excitotoxin that keeps the brain in a state of heightened arousal. The enzyme HAAO...

rs4148102 Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifies how dietary polyunsaturated fat intake affects LDL and total cholesterol; AA homozygotes consuming high-PUFA diets show markedly elevated LDL-cholesterol.

Chromosome 21 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, Triglycerides, Omega-3, Diet, Cardiovascular, Cholesterol

ABCG1 (ATP-binding cassette transporter G1(https://pubmed.ncbi.nlm.nih.gov/35575923/)) encodes one of the body's principal cholesterol efflux transporters. Located on chromosome 21q22.3, ABCG1 is expressed in macrophages, liver, and many other tissues, where it loads mature HDL particles with surplus cellular...

rs4810424 Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carriers show reduced pancreatic beta-cell HNF4A expression and modestly elevated type 2 diabetes risk

Chromosome 20 Risk Allele C Category Fat Storage & Energy Tags Diabetes, Pancreatic Beta Cell, Insulin, Fasting Glucose, Metabolic Health, Ancestry-Specific

The R3HDML gene on chromosome 20q13 sits immediately adjacent to a well-characterized regulatory landmark: the P2 promoter of HNF4A (| Hepatocyte Nuclear Factor 4-alpha, a transcription factor critical for pancreatic islet development and insulin secretion). rs4810424 falls within an R3HDML intron, but its...