Research — GeneOps

rs1050152 Missense variant in SLC22A4 encoding the organic cation/ergothioneine transporter OCTN1; the T allele (503F) increases ergothioneine transport efficiency and forms part of the IBD5 two-locus TC risk haplotype associated with Crohn's disease and other inflammatory conditions; strongly enriched in Europeans

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags IBD, Inflammation, Gut Health, Immune Function, Autoimmune, Gut Barrier

OCTN1( https://pubmed.ncbi.nlm.nih.gov/15795384/) is the product of the SLC22A4 gene on chromosome 5q31. The region around SLC22A4 is one of the earliest and most replicated inflammatory bowel disease susceptibility loci in human genetics — a 250 kb haplotype block called the IBD5...

rs10507391 Intronic ALOX5AP variant in the HapA haplotype; the A allele is associated with elevated leukotriene production and increased leukotriene-mediated vascular inflammation, with population-specific associations with ischemic stroke and systemic sclerosis-related interstitial lung disease

Chromosome 13 Risk Allele A Category Vascular Inflammation & Remodeling Tags Atherosclerosis, Inflammation, Cardiovascular, Cerebrovascular, Heart Disease, Leukotriene

When a blood vessel wall becomes injured or inflamed, one of the body's first responders is the leukotriene pathway(https://pubmed.ncbi.nlm.nih.gov/14770184/). ALOX5AP — arachidonate 5-lipoxygenase activating protein, also called FLAP (5-lipoxygenase activating protein) — is the essential scaffold protein that...

rs10515522 Intronic NR3C1 variant associated with longevity in Polish nonagenarians and centenarians; the C minor allele correlates with better survival rates and altered cholesterol metabolism

Chromosome 5 Risk Allele C Category Longevity & Aging Tags Longevity, Aging, Stress Response, HPA Axis, Cortisol, Cholesterol

The glucocorticoid receptor encoded by NR3C1 is the cell's primary transducer of cortisol signaling — connecting the body's stress response to gene expression programs that regulate inflammation, metabolism, immune function, and cellular aging. Most NR3C1 variants studied to date alter GR sensitivity in ways that...

rs1051730 CHRNA3 synonymous variant in the nicotinic receptor gene cluster strongly associated with heavy smoking, nicotine dependence, lung cancer, and COPD, with independent effects in non-European populations

Chromosome 15 Risk Allele A Category Mood & Behavior Tags Mental Health, Addiction, Smoking, Lung Cancer, Neurotransmitters, Lung Health

Within a narrow region of chromosome 15 sits one of the most replicated genetic signals for smoking behavior ever discovered. The CHRNA3/CHRNA5/CHRNB4 gene cluster encodes three subunits of the nicotinic acetylcholine receptor (nAChR)—the molecular target of nicotine—and variants within it have been identified as...

rs1053049 3'UTR variant in PPARD that acts as the third tag in the elite athlete haplotype (rs2267668/rs2016520/rs1053049); TC carriers show enhanced skeletal muscle glucose uptake and insulin sensitivity; the A/C/C haplotype containing this C allele is dramatically underrepresented in elite athletes

Chromosome 6 Risk Allele C Category Fitness & Body Tags Endurance, Exercise, Fat Metabolism, Cardiovascular, Muscle, Insulin

PPARδ() is encoded by the PPARD gene on chromosome 6. The rs1053049 variant sits in the 3' untranslated region (3'UTR) of exon 9 — a regulatory stretch of RNA that is not translated into protein but profoundly influences how much PPARD mRNA is produced, how long it persists in the cell, and ultimately how much PPARδ...

rs1063537 3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common C allele is associated with lower circulating adiponectin and higher type 2 diabetes and cardiovascular risk, while the minor T allele is protective for metabolic outcomes

Chromosome 3 Risk Allele C Category Fat Storage & Energy Tags Adipogenesis, Insulin Resistance, Metabolic Syndrome, Cardiovascular, Diabetes, Kidney

Adiponectin is the most abundant hormone secreted by fat tissue, yet its effects run counter to what you might expect: despite originating in adipose cells, it works against the pathological consequences of excess fat. It sensitizes muscle and liver to insulin, suppresses inflammatory cytokines, and protects blood...

rs10738445 Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2 expression, elevating susceptibility to adolescent idiopathic scoliosis and predicting brace treatment failure

Chromosome 9 Risk Allele C Category Innate Immunity & Infection Defense Tags Bone & Joint, Connective Tissue, Innate Immunity, Inflammation, Embryo Development

Basonuclin-2 (BNC2) is a zinc finger transcription factor expressed during skeletal development with roles in regulating cell proliferation and differentiation in growth plate cartilage and intervertebral disc tissue. rs10738445 sits in intron 3 of BNC2(https://pubmed.ncbi.nlm.nih.gov/26211971/). Despite its...

rs10766383 Intronic NUCB2 variant associated with type 2 diabetes risk in females and oral cancer progression in older males — the T allele modestly reduces nesfatin-1 signaling efficiency across metabolic and oncological contexts

Chromosome 11 Risk Allele T Category Hormones & Sleep Tags Hormones, Sleep, Appetite, Obesity, Diabetes, Cancer Risk

Nucleobindin-2 (NUCB2) on chromosome 11p15.1 encodes the precursor protein for nesfatin-1(https://pubmed.ncbi.nlm.nih.gov/20682642/), a neuropeptide governing appetite, glucose regulation, blood pressure, and sleep-wake cycling. The rs10766383 variant sits deep within an intron of NUCB2 (GRCh38 chr11:17308251),...

rs10767664 Obesity GWAS locus in a conserved BDNF enhancer - reduces hypothalamic BDNF expression and satiety signaling, increasing caloric intake and BMI

Chromosome 11 Risk Allele A Category Appetite & Obesity Tags Obesity, Satiety, Appetite, Fat Metabolism, Brain Health, Diabetes

Most people who know about BDNF (brain-derived neurotrophic factor) know it as the brain's plasticity hormone — the factor that strengthens memories, supports neuroplasticity, and responds to exercise. That well-known story belongs to rs6265 (Val66Met), a coding variant that affects BDNF secretion in neurons and is...

rs10800309 Intronic upstream variant in FCGR2A that modulates surface expression of the FcγRIIa immune receptor on myeloid cells, altering IgG immune complex clearance efficiency and autoimmune susceptibility

Chromosome 1 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Inflammation, Lupus, Immune Response, Macrophage

Your immune system uses antibodies as molecular flags — tagging pathogens and cellular debris for removal. The actual removal work is done by macrophages, neutrophils, and dendritic cells carrying a surface receptor called FcγRIIa, encoded by FCGR2A. This receptor is the cell's sensor for IgG antibody complexes:...