Research — GeneOps

rs564398 Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS1); the T risk allele impairs glucose-stimulated pancreatic beta-cell proliferation, conferring a modest but independently replicated ~8% increased type 2 diabetes risk per allele

Chromosome 9 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Pancreatic Beta Cell, Insulin, Metabolic, Cardiovascular, Cancer Risk

The region of chromosome 9 known as 9p21 harbors one of the most consistently replicated type 2 diabetes risk signals in the human genome. rs564398 sits within CDKN2B-AS1 (ANRIL)() — a long non-coding RNA that modulates expression of the adjacent tumor suppressor genes CDKN2A (p16) and CDKN2B (p15). These inhibitors...

rs6166 Affects FSH receptor sensitivity, determining ovarian response to FSH stimulation and influencing fertility treatment dosing in both women and men

Chromosome 2 Risk Allele C Category Hormones & Sleep Tags Reproductive Health, Hormones, Fertility, PCOS, Pharmacogenomics

The follicle-stimulating hormone receptor (FSHR) sits on the surface of granulosa cells in the ovary and Sertoli cells in the testes, where it receives FSH signals that drive follicle development, oocyte maturation, and sperm production. The N680S variant — a single amino acid change at position 680 from asparagine...

rs968567 Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression via ELK1 transcription factor binding; the minor T allele elevates D6D activity, accelerating conversion of dietary omega-6 and omega-3 precursors to long-chain PUFAs with downstream effects on arachidonic acid production and inflammatory mediator balance.

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

Most genetic variants in the FADS gene cluster reduce enzyme activity. rs968567 works differently: the minor T allele turns up delta-6 desaturase (D6D(https://pubmed.ncbi.nlm.nih.gov/19546342/)). Instead of blocking PUFA synthesis, T allele carriers push the omega-6 and omega-3 pathways faster — generating more...

rs2851301 Upstream promoter variant in ADH5 at a potential NF-kB binding site; the minor T allele is proposed to disrupt NF-kB-driven GSNOR transcription, reducing S-nitrosoglutathione catabolism and providing protection against childhood asthma

Chromosome 4 Risk Allele C Category Allergy & Atopic Disease Tags Asthma, Inflammation, Nitric Oxide, Lung Health, Oxidative Stress, Detoxification

Two adjacent promoter variants in the ADH5 gene sit within a potential NF-κB binding site(https://pubmed.ncbi.nlm.nih.gov/17543375/). rs2851301 is one of these two sites. The hypothesis is that the minor T allele disrupts this binding site — preventing NF-κB from switching on GSNOR transcription during inflammatory...

rs3785883 Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a configuration distinct from H1c — independently associated with non-tremor dominant Parkinson's disease at OR 2.9 after Bonferroni correction, and sharing no meaningful linkage disequilibrium with the H1c-defining markers rs242557 or rs2471738 (r² ≈ 0.01)

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

The MAPT gene encodes tau, a microtubule-stabilising protein central to several neurodegenerative diseases. The gene sits within a large chromosomal inversion on 17q21 that divides all humans into two broad haplotype clades: H1 (no inversion) and H2 (inverted). H1 carriers face elevated tau-related disease risk —...

rs4149056 Statin transport - affects muscle side effect risk with statins

Chromosome 12 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Statins, Cardiovascular, Liver

SLCO1B1 encodes the organic anion transporting polypeptide 1B1 (OATP1B1), a liver uptake transporter that moves statins from the blood into liver cells where they exert their cholesterol-lowering effect. When this transporter does not work properly, statins accumulate in the blood and muscle tissue instead of...

rs4680 Dopamine/catecholamine breakdown — affects stress response and methyl donor tolerance

Chromosome 22 Risk Allele A Category Methylation & Detox Tags Methylation, Neurotransmitters, Detoxification, Dopamine, Mood, Mental Health, Pain

COMT (catechol-O-methyltransferase) | COMT methylates and inactivates catechol-containing compounds including dopamine, estrogens, and certain drugs is an enzyme that breaks down catecholamines — dopamine, norepinephrine, and epinephrine — by adding a methyl group from SAM. The Val158Met variant (rs4680) is one of...

rs587777380 Multi-allelic pathogenic locus — both H90P (T>G) and H90R (T>C) disrupt the DYRK1B DH box, causing AOMS3 (early-onset central obesity, type 2 diabetes, hypertension, coronary artery disease) via impaired kinase maturation

Chromosome 19 Risk Allele G Category Blood Sugar & Diabetes Tags Diabetes, Obesity, Metabolic Syndrome, Cardiovascular, Insulin Resistance, Fat Distribution

DYRK1B (Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1B) is a serine/threonine kinase that plays a pivotal role in adipogenesis, glucose homeostasis, and hedgehog/Wnt signaling pathways. When functioning normally, DYRK1B helps restrain fat cell differentiation and maintain metabolic balance. The H90P...

rs6885099 Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele raises the thyroid set-point, increasing hypothyroidism risk and potentially affecting levothyroxine dose requirements

Chromosome 5 Risk Allele G Category Hormones & Sleep Tags Thyroid, Hormones & Thyroid, Hormones, Metabolism, Cardiovascular

Your thyroid gland operates like a thermostat: the pituitary hormone TSH (thyroid-stimulating hormone)(https://pubmed.ncbi.nlm.nih.gov/23408906/) signals the thyroid to produce more or less hormone. But the gain on that thermostat varies between individuals — and PDE8B is a key control knob. PDE8B encodes...

rs9951026 Intronic LIPG variant that tags a haplotype associated with higher LDL cholesterol and apolipoprotein B, with effects on lipid profiles that are substantially modified by physical activity

Chromosome 18 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, Cholesterol, Cardiovascular, Triglycerides, HDL Cholesterol

Endothelial lipase (EL), encoded by the LIPG gene on chromosome 18, is the primary enzyme responsible for breaking down the phospholipid surface of HDL particles(https://www.ncbi.nlm.nih.gov/gene/9388). Unlike lipoprotein lipase (which targets triglyceride-rich VLDL and chylomicrons), EL preferentially hydrolyzes...