Research — GeneOps

rs174535 Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associated with circulating omega-3 PUFA and DHA levels; the C allele is linked to lower serum omega-3 and DHA concentrations, likely through linkage disequilibrium with the nearby FADS1/FADS2 desaturase cluster

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

Chromosome 11's 11q12 region is home to one of the most influential loci for polyunsaturated fatty acid (PUFA) metabolism in the human genome — the FADS gene cluster encoding the delta-5 and delta-6 desaturase enzymes that convert dietary fatty acid precursors into the long-chain omega-3 and omega-6 fatty acids your...

rs17728338 Intergenic regulatory variant near TNIP1 whose A allele reduces ABIN1-mediated NF-kB braking, conferring OR=1.69 for psoriasis per allele and substantially elevated generalized pustular psoriasis risk in homozygous carriers

Chromosome 5 Risk Allele A Category Psoriasis & Spondyloarthropathy Tags Autoimmune, Inflammation, Psoriasis, Skin, Skin Health, Anti-TNF Biologics

The immune system's inflammatory response is governed by a finely tuned off-switch. NF-kB, the master transcription factor driving cytokine production and immune cell activation, must be rapidly shut off once a threat has passed. The primary brake is A20 (encoded by TNFAIP3), a deubiquitinase that strips activating...

rs179247 Intronic regulatory variant in TSHR intron 1; the A allele reduces thymic expression of the TSH receptor, impairing central tolerance to thyroid antigens and increasing susceptibility to Graves' disease — the most common autoimmune cause of hyperthyroidism

Chromosome 14 Risk Allele A Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, Thyroid, Hormones & Thyroid, Immune & Autoimmune, T-Cell Regulation, Inflammation

When researchers set out to systematically fine-map the thyroid stimulating hormone receptor gene for Graves' disease susceptibility, rs179247 was the variant that emerged most strongly. In the landmark 2009 discovery study by Brand et al. in Human Molecular Genetics(https://pubmed.ncbi.nlm.nih.gov/19244275/),...

rs1801020 5' UTR variant that reduces Factor XII translation efficiency, lowering plasma FXII levels and reducing contact activation coagulation

Chromosome 5 Risk Allele A Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Thrombosis, Heart Disease, Inflammation, Thrombophilia

Coagulation Factor XII (FXII), also called Hageman factor, is the initiating enzyme of the contact activation pathway(https://pubmed.ncbi.nlm.nih.gov/29563193/) of coagulation. When activated, FXII sets off a cascade that ultimately generates thrombin and produces a fibrin clot. FXII also activates the...

rs1801198 Transcobalamin II variant affecting cellular delivery of vitamin B12 via holotranscobalamin binding efficiency

Chromosome 22 Risk Allele G Category Vitamins & Nutrient Absorption Tags Vitamin B12, B Vitamins, Methylation, Homocysteine, Neuropathy

Vitamin B12 travels through your bloodstream bound to two different proteins. About 75-80% binds to haptocorrin(), which is metabolically inert. The remaining 20-25% binds to transcobalamin II() (encoded by the TCN2 gene), forming holotranscobalamin(https://pubmed.ncbi.nlm.nih.gov/21593512/) (holoTC) -- the only...

rs1805007 Strongest "R" allele in the melanocortin-1 receptor, shifting pigment from photoprotective eumelanin to pro-oxidant pheomelanin; doubles melanoma risk and triples non-melanoma skin cancer risk per allele

Chromosome 16 Risk Allele T Category Skin & Eyes Tags Pain Sensitivity, Skin Health, Anesthesia, Melanoma Risk, Red Hair, Skin Cancer, Pigmentation, Sun Sensitivity, UV Protection, Vitamin D, Oxidative Stress

The melanocortin-1 receptor (MC1R) is the master switch on the surface of melanocytes that decides which type of pigment your skin produces. When UV light hits the skin, the hormone alpha-MSH (α-MSH) binds to MC1R and activates a signaling cascade that shifts pigment production toward...

rs1898830 Intronic TLR2 variant that modulates innate immune signaling intensity; G allele reduces TLR2 pathway activity and is protective against tuberculosis and periodontitis, while the common A allele sustains higher TLR2 activation linked to cardiovascular risk markers and autoimmune inflammation

Chromosome 4 Risk Allele A Category Innate Immunity & Infection Defense Tags TLR Signaling, Autoimmune, Inflammation, Bacterial Sensing, Cardiovascular, Infectious Disease

Toll-like receptor 2 (TLR2)(https://www.ncbi.nlm.nih.gov/gene/7097) occupies a pivotal position in innate immunity: it sounds the alarm when bacteria arrive, but also mediates chronic inflammation when tissue damage keeps feeding it self-derived signals. The rs1898830 variant sits within the first intron of TLR2 on...

rs201038679 Pathogenic missense variant in the copper transporter ATP7B; heterozygous carriers are asymptomatic but can pass Wilson disease to children if their partner also carries an ATP7B pathogenic variant

Chromosome 13 Risk Allele A Category Iron & Mineral Transport Tags Metal Metabolism, Liver Disease, Carrier Status, Genetic Counseling, Minerals, Liver

Every cell that makes proteins must also manage copper — an essential mineral that acts as a cofactor for dozens of enzymes yet becomes toxic when it accumulates. The ATP7B protein is the liver's primary copper disposal system: it pumps excess copper into bile for excretion and loads copper onto...

rs2018643 Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4; the T allele tags a haplotype associated with reduced renal urate clearance and higher serum uric acid, while the C allele is protective; the variant contributes to the multi-signal genetic architecture of the SLC2A9 locus — the single largest genetic determinant of serum urate in humans

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Kidney Function, Cardiovascular, Diet, Minerals

Serum uric acid (urate) is one of the most heritable metabolic traits in humans, and a single genomic region on chromosome 4 — spanning the SLC2A9 gene — accounts for more of that heritability than any other locus in the genome. The rs2018643 variant sits within an intron of SLC2A9 and tags a haplotype associated...

rs2043211 Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's caspase-1 inhibitory function, elevating IL-1β and IL-18 production and modifying susceptibility to autoimmune and inflammatory conditions

Chromosome 19 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Tags Inflammation, Autoimmune, Innate Immunity, Inflammatory Bowel Disease, Arthritis, Immune Response

The NLRP3 inflammasome is a powerful intracellular alarm system that triggers fever, neutrophil recruitment, and systemic inflammation in response to infections and cellular damage. To prevent runaway activation, the cell maintains several internal brakes. CARD8 (caspase recruitment domain family member 8) is one of...