Research — GeneOps

rs17612852 Intronic tag SNP in HLA-DQA1 in strong LD with HLA-DQA1*01:02; the G allele increases peanut allergy susceptibility by tagging the DQA1*01:02 haplotype, raises HLA-DQB1 expression in CD4+ T cells, and drives protective peanut-specific IgG4 responses when peanut is consumed early in life

Chromosome 6 Risk Allele G Category Allergy & Atopic Disease Tags HLA, Food Sensitivity, Autoimmune, Immune Response, MHC Antigen Presentation, Inflammation

Buried in the most complex region of the human genome — the HLA class II locus(https://pubmed.ncbi.nlm.nih.gov/25710614/) — lies a variant with a paradoxical property: the same genetic signal that increases peanut allergy risk when peanut is avoided promotes powerful immune protection when peanut is consumed early....

rs1800547 Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q binding, distinguishing H1 (risk) from H2 (protective) haplotypes for Parkinson's disease, PSP, corticobasal degeneration, and Alzheimer's disease

Chromosome 17 Risk Allele A Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Dementia, Alzheimer's, Brain Health, Aging

Within the microtubule-associated protein tau (MAPT) gene on chromosome 17q21, a single nucleotide difference at rs1800547 marks one of the most consequential forks in human neurological risk: the ancient H1/H2 haplotype boundary. While the broader H1/H2 distinction spans a 900-kilobase chromosomal inversion,...

rs1801133 Key enzyme for converting folate to its active methylfolate form

Chromosome 1 Risk Allele A Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Homocysteine, Cardiovascular, Thrombophilia

MTHFR (methylenetetrahydrofolate reductase) is arguably the most talked-about gene in nutritional genomics, and for good reason. It encodes the enzyme that converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate | The active form of folate that enters the methylation cycle (methylfolate), the...

rs1884613 Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele strongly elevates type 2 diabetes risk in Ashkenazi Jewish populations (OR ~1.70) and modestly in Scandinavians (OR ~1.14) by reducing beta-cell-specific HNF4A isoform expression

Chromosome 20 Risk Allele G Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Pancreatic Beta Cell, Metabolic Health, Ancestry-Specific, Energy Metabolism

HNF4A(https://www.ncbi.nlm.nih.gov/gene/3172) is one of the master regulators of glucose and lipid homeostasis. It has a unique dual-promoter architecture: P1 drives the adult-liver isoform, while the P2 promoter() drives the "beta-cell-specific" isoform (HNF4A7–12). rs1884613 is an intronic variant that falls...

rs2108622 Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anticoagulation

Chromosome 19 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Warfarin, Blood Thinners, Cardiovascular

CYP4F2 encodes a cytochrome P450 enzyme(https://pubmed.ncbi.nlm.nih.gov/19297519/) that metabolizes vitamin K1 to hydroxyvitamin K1, effectively removing it from the vitamin K cycle. This serves as a counterbalance to VKORC1 (vitamin K epoxide reductase), preventing excessive accumulation of vitamin K. The V433M...

rs228697 Core clock gene variant that shifts circadian period length and influences morning vs evening chronotype

Chromosome 1 Risk Allele G Category Hormones & Sleep Tags Sleep, Circadian, Chronotype, Anxiety

The PER3 gene encodes Period Circadian Regulator 3(), a protein at the heart of the molecular clock that governs your ~24-hour sleep-wake cycle. Every cell in your body runs a version of this clock, and PER3 helps set its tempo. The rs228697 variant swaps a proline for an alanine at position 864, subtly changing how...

rs2605100 Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat distribution, with sex-dimorphic effects strongest in women

Chromosome 1 Risk Allele G Category Fat Storage & Energy Tags Fat Metabolism, Obesity, Diet, Cardiovascular, Triglycerides, Insulin

Where you store fat matters as much as how much fat you carry. Two people with identical BMIs can have very different metabolic and health profiles depending on whether fat accumulates centrally (around the abdomen) or peripherally (in the hips, buttocks, and legs). The LYPLAL1 locus on chromosome 1q41 is one of the...

rs2727271 Intronic variant in FADS2 (delta-6 desaturase) associated with reduced enzyme activity and impaired conversion of plant-based omega-3 (ALA) and omega-6 (LA) precursors into long-chain PUFAs, with the T allele linked to lower circulating EPA and arachidonic acid

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Tags Omega-3, Fat Metabolism, Vitamins, Cardiovascular, Diet, Nutrition & Metabolism

FADS2(https://pubmed.ncbi.nlm.nih.gov/19148276/) is one of the most consequential enzymes in human lipid metabolism. It processes both the omega-3 pathway (ALA → stearidonic acid → EPA) and the omega-6 pathway (linoleic acid → gamma-linolenic acid → DGLA → arachidonic acid). Without adequate FADS2 activity, the...

rs2811712 Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus that influences CDKN2B expression and functional aging; the G allele is protective against physical impairment with age

Chromosome 9 Risk Allele A Category Longevity & Aging Tags Longevity, Aging, Cardiovascular, Cancer Risk, Inflammaging, Inflammation

A single stretch of chromosome 9 — the 9p21.3 locus — is the most consistently replicated region in genome-wide association studies for age-related disease. Coronary artery disease, type 2 diabetes, glioma, melanoma, and now physical aging have all been linked to variation here. At the heart of the locus sits ANRIL...

rs35767 Promoter variant affecting circulating IGF-1 levels and athletic performance potential

Chromosome 12 Risk Allele G Category Fitness & Body Tags Muscle Development, Strength, Power, Endurance, Recovery, Protein Synthesis

Insulin-like growth factor 1 (IGF-1) is one of the most powerful anabolic hormones in the human body. It activates the PI3K/Akt/mTOR pathway(https://pubmed.ncbi.nlm.nih.gov/32858949/), stimulates satellite cell activation(https://pubmed.ncbi.nlm.nih.gov/10632630/), and drives skeletal muscle hypertrophy in response...