Research — GeneOps

rs6949152 Intronic variant in the master mitochondrial biogenesis transcription factor — the G allele is associated with lower slow-twitch muscle fiber proportion and reduced aerobic training adaptability

Chromosome 7 Risk Allele G Category Longevity & Aging Tags Mitochondria, Longevity, Aging, Aerobic Capacity, Endurance, Fitness

Nuclear respiratory factor 1 (NRF1) sits at the heart of mitochondrial biogenesis, one step downstream from the master regulator PGC-1alpha. While PGC-1alpha (encoded by PPARGC1A) senses metabolic stress and initiates the biogenesis cascade, NRF1 translates that signal into action — binding directly to the promoters...

rs897453 PEMT missense variant (Val95Ile) reducing endogenous phosphatidylcholine synthesis and elevating dietary choline requirements, with strongest impact in premenopausal women and during pregnancy

Chromosome 17 Risk Allele T Category Vitamins & Nutrient Absorption Tags Methylation, Liver Health, Women's Health, B Vitamins, Fertility

Choline(https://pubmed.ncbi.nlm.nih.gov/17613168/) is called "essential" for a reason: your body cannot make enough of it on its own. Almost all of it must come from food — unless you're a premenopausal woman with a working copy of PEMT(https://pubmed.ncbi.nlm.nih.gov/21059658/) doing its job. The PEMT enzyme...

rs2158177 Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD50/IL13 atopy susceptibility locus; the G allele is associated with elevated blood eosinophil counts, atopic dermatitis susceptibility in Chinese Han populations (OR 1.15), and asthma risk through amplified Th2 locus control region activity

Chromosome 5 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, Inflammation, Autoimmune, Skin Health, Lung Health, Immune Response

Tucked within TH2LCRR — T helper type 2 locus control region associated RNA — a long noncoding RNA(https://pubmed.ncbi.nlm.nih.gov/34851809/) that sits at the genomic address where some of the most replicated allergy genetics live — chromosome 5q31.1, position 132,648,366 (GRCh38). This locus is flanked upstream by...

rs234706 Common synonymous variant in the CBS gene associated with reduced cardiovascular disease risk and enhanced response to folate supplementation

Chromosome 21 Risk Allele A Category Methylation & Detox Tags Methylation, Cardiovascular, Folate, B Vitamins, Homocysteine, Detoxification

The CBS (cystathionine beta-synthase) gene encodes a critical enzyme that sits at the crossroads of methylation and transsulfuration metabolism. CBS catalyzes the first step of the transsulfuration pathway, converting homocysteine(https://pubmed.ncbi.nlm.nih.gov/) into cystathionine, which ultimately becomes...

rs2653349 Missense variant at position 308 of the orexin receptor 2 protein; the minor Ile308 allele (A) reduces receptor activity, increasing daytime napping tendency and evening chronotype, while placing the variant directly at a drug target for orexin antagonist sleep medications

Chromosome 6 Risk Allele A Category Neurology & Cognition Tags Sleep, Arousal, Chronotype, Pharmacogenomics, Neurotransmitters, Brain Health

The orexin system is your brain's primary wakefulness engine. Two neuropeptides — orexin A and orexin B — are released by a small cluster of hypothalamic neurons and broadcast across the brainstem to maintain alert wakefulness. They bind two receptors: HCRTR1 (orexin receptor 1) and HCRTR2 (orexin receptor...

rs316019 Reduces OCT2 organic cation transporter function in the kidney, lowering metformin renal clearance and conferring partial protection against cisplatin ototoxicity and nephrotoxicity

Chromosome 6 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Diabetes, Metformin, Kidney

SLC22A2 encodes organic cation transporter 2 (OCT2), the dominant transporter on the basolateral membrane of kidney proximal tubule cells. OCT2 is responsible for the first and rate-limiting step in renal secretion of metformin: uptake from the bloodstream into tubular epithelial cells. Without efficient OCT2...

rs3787348 Intronic PTPN1 tag SNP within the 100-kb insulin-resistance haplotype block; carriers of the T allele show reduced weight loss response to lifestyle intervention and blunted leptin reduction, consistent with elevated PTP1B activity dampening insulin and leptin signaling

Chromosome 20 Risk Allele T Category Blood Sugar & Diabetes Tags Insulin Resistance, Leptin, Obesity, Diabetes, Metabolic Health, Fat Distribution

When you try to lose weight, two hormones drive most of the work: insulin directs your cells to take up glucose, and leptin tells your hypothalamus to suppress appetite and ramp up energy expenditure. Both signals are time-limited — an enzyme called PTP1B, encoded by the PTPN1 gene on chromosome 20, dephosphorylates...

rs4307059 Intergenic variant at 5p14.1 between neuronal cell-adhesion genes CDH9 and CDH10, associated with autism spectrum disorder risk and related social-communication and sleep phenotypes

Chromosome 5 Risk Allele C Category Hormones & Sleep Tags Sleep, Neurological Risk, Cognition, Sensory Processing, Brain Health, Mental Health

Between the two type-II classical cadherin genes CDH9 and CDH10 on chromosome 5p14.1 lies one of the most replicated common variant associations with autism spectrum disorder (ASD). The rs4307059 C allele was the lead signal from the first genome-wide significant common variant discovery in...

rs4783244 Intronic CDH13 variant altering T-cadherin expression; T allele carriers have lower circulating adiponectin but improved adiponectin signalling efficiency and better cardiometabolic outcomes

Chromosome 16 Risk Allele T Category Triglycerides & Fatty Acids Tags Fat Metabolism, Cardiovascular, Insulin Resistance, Adipogenesis, Metabolic Syndrome

T-cadherin (also called H-cadherin) is encoded by the CDH13 gene and is one of the body's most abundant adipokine receptors. Unlike other cadherin proteins, T-cadherin lacks the intracellular signalling domain and is anchored to the cell surface by a GPI anchor(https://www.ncbi.nlm.nih.gov/gene/1012). On vascular...

rs5181 Rare missense variant in the ApoE receptor 2 (LRP8) ligand-binding domain, disrupting a conserved tryptophan involved in apolipoprotein E-mediated lipid uptake and cholesterol homeostasis in adipocytes and macrophages

Chromosome 1 Risk Allele G Category Fat Storage & Energy Tags Lipid Metabolism, Fat Metabolism, Cardiovascular, Cholesterol, Atherosclerosis, Obesity

The LRP8 gene(https://omim.org/entry/602600) that binds apolipoprotein E-enriched lipoproteins and mediates their endocytosis into cells. While LRP8 is best known for its role in neuronal Reelin signaling, it is also prominently expressed in adipocytes and macrophages, where it participates in apoE-directed lipid...