Research — GeneOps

rs3129934 Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically near HLA-DRB5 in the MHC region and in near-complete LD with rs3135388; the DRB5*01:01 allele contributes independently to multiple sclerosis and narcolepsy risk by presenting myelin and viral peptides to autoreactive CD4+ T cells

Chromosome 6 Risk Allele T Category Neurology & Cognition Tags Immune & Gut, Immune & Autoimmune, HLA, Neuroinflammation, Autoimmunity, Sleep

The major histocompatibility complex (MHC) on chromosome 6p21 is the most gene-dense and clinically consequential region of the human genome, and rs3129934 sits within it as an intronic variant in TSBP1/C6orf10(https://www.ncbi.nlm.nih.gov/snp/rs3129934) that efficiently tags HLA-DRB501:01 on the DR15 susceptibility...

rs366631 Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomic variant worldwide, eliminating a Phase II detoxification enzyme that conjugates glutathione to environmental carcinogens

Chromosome 1 Risk Allele A Category Methylation & Detox Tags Detoxification, Glutathione, Phase II, Oxidative Stress, Xenobiotics, Diet, Carcinogen Metabolism, NRF2 Target

Glutathione S-transferase Mu 1 (GSTM1) is a Phase II detoxification enzyme() that plays a critical role in neutralizing environmental carcinogens, pollutants, and reactive oxygen species. It works by conjugating glutathione() to electrophilic compounds — essentially tagging dangerous molecules for safe elimination...

rs373489637 Near-complete loss-of-function CYP2B6 variant causing severely impaired metabolism of efavirenz, bupropion, methadone, and other CYP2B6 substrates

Chromosome 19 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, HIV Treatment, Pain Medication, Antidepressants

CYP2B6 is one of the most polymorphic drug-metabolizing enzymes in the human genome, responsible for the metabolism of approximately 8% of prescription medications including critical drugs for HIV treatment, pain management, depression, and cancer therapy. The V183G variant (c.548TG, p.Val183Gly) is a rare missense...

rs4607517 Common intronic variant near glucokinase that raises fasting glucose by impairing the pancreatic glucose-sensing threshold; each A allele adds ~0.062 mmol/L to fasting glucose and modestly reduces beta-cell function

Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Tags Fasting Glucose, Pancreatic Beta Cell, Diabetes, Insulin, Energy Metabolism, Metabolic Health

Glucokinase() (GCK) occupies a unique position in metabolic biology: it is simultaneously the glucose sensor of the pancreatic beta cell and a regulator of hepatic glucose uptake. Unlike most enzymes, glucokinase is not inhibited by its own product, which means insulin secretion scales continuously with rising blood...

rs4746 Missense variant in glyoxalase 1 reducing enzyme activity, allowing methylglyoxal to accumulate — a GABA-A receptor modulator that influences anxiety and sleep quality

Chromosome 6 Risk Allele G Category Hormones & Sleep Tags Sleep, Anxiety, Neurotransmitters, Oxidative Stress, Mood

Your cells constantly generate methylglyoxal (MG)(https://pubmed.ncbi.nlm.nih.gov/22585572/), a byproduct of burning glucose. Left unchecked, MG damages proteins and DNA by forming advanced glycation end-products (AGEs)(https://pubmed.ncbi.nlm.nih.gov/39408249/). The enzyme glyoxalase 1 (GLO1) is the primary...

rs5085 Intronic APOA2 tag SNP that captures the saturated fat-weight gain interaction — G allele carriers gain more weight on high saturated fat diets due to reduced APOA2-mediated satiety signaling

Chromosome 1 Risk Allele G Category Triglycerides & Fatty Acids Tags Fat Metabolism, Diet, Obesity, Cardiovascular, Satiety, Metabolic

Apolipoprotein A-II (APOA2) is the second most abundant protein on HDL cholesterol particles. Beyond its role in lipid transport, research over the past two decades has revealed a surprising function: APOA2 appears to act as a satiety signal(), particularly in the context of saturated fat ingestion. The rs5085...

rs6954668 Intergenic variant near the SFRP5 adipokine locus; the A allele is strongly enriched in African ancestry (~19% MAF) and absent in East Asian populations, tagging a regulatory region that may influence SFRP5 expression — the anti-inflammatory adipokine that suppresses pro-inflammatory Wnt5a signaling in adipose tissue

Chromosome 7 Risk Allele A Category Fat Storage & Energy Tags Adipogenesis, Obesity, Inflammation, Cardiovascular, Metabolic Health

Your adipose tissue is more than a fuel depot — it is an active endocrine organ secreting dozens of signaling proteins that regulate metabolism, inflammation, and cardiovascular risk. Among these, secreted frizzled-related protein 5 (SFRP5)(https://pubmed.ncbi.nlm.nih.gov/20558665/) stands out as a protective...

rs9420907 Intronic variant in the CST complex component STN1/OBFC1 that influences telomere length; the C allele drives longer telomeres and elevated cancer risk while the A allele predisposes to shorter telomeres and accelerated cellular aging

Chromosome 10 Risk Allele A Category Longevity & Aging Tags Telomere Biology, Aging, Longevity, Cancer Risk, Cardiovascular, DNA Repair

Your chromosomes end in telomeres — repetitive DNA caps that protect genetic information from fraying like the plastic tips on shoelaces. Every time a cell divides, telomeres shorten slightly, acting as a molecular clock that limits how many times a cell can replicate. When telomeres reach a critical short length,...

rs2243250 Promoter polymorphism 589 bases upstream of the IL-4 transcription start site; the T allele enhances NFAT-1 binding, elevates IL-4 transcription, raises serum IgE, and amplifies Th2-skewed immune responses underlying allergic asthma, atopic dermatitis, and allergic rhinitis

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Autoimmune, Inflammation, Immune Response, Immune System, Immune & Autoimmune

Your immune system must balance two broad modes of response: the Th1 mode, geared toward intracellular pathogens and inflammatory control, and the Th2 mode, oriented toward parasite defence, wound healing, and — in the modern environment — allergic reactions. The cytokine interleukin-4 (IL-4) is the master regulator...

rs3135388 Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest genetic risk factor for multiple sclerosis, with implications for vitamin D optimization and EBV immune control

Chromosome 6 Risk Allele A Category Neurology & Cognition Tags Immune & Gut, Immune & Autoimmune, HLA, Vitamin D, Neuroinflammation, Autoimmunity, Multiple Sclerosis, MHC Antigen Presentation

The HLA region on chromosome 6 is the most gene-dense and clinically significant stretch of the human genome, and rs3135388 sits within it as a highly efficient tag SNP(https://pubmed.ncbi.nlm.nih.gov/19433080/) for the HLA-DRB115:01 allele. HLA-DRB1 encodes one chain of the HLA class II protein complex, which sits...