Research — GeneOps

rs137853097 Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein; biallelic inheritance causes peroxisomal fatty acid oxidation failure with severe neonatal neurological disease; heterozygous carriers are clinically unaffected but carry reproductive risk

Chromosome 5 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Carrier Status, Fat Metabolism, Neurological Risk, Reproductive Health, Genetic Counseling, Hearing Loss

D-bifunctional protein (DBP), encoded by HSD17B4, is the enzymatic workhorse of peroxisomal beta-oxidation — the cellular pathway that shortens very long-chain fatty acids (VLCFAs), branched-chain fatty acids, and bile acid precursors that mitochondria cannot handle alone. The protein contains three sequentially...

rs140597 Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating aspartate at position 1113 with glycine in an EGF-like calcium-binding domain, disrupting microfibril assembly and predisposing heterozygous carriers to familial thoracic aortic aneurysm and dissection (FTAAD) and Marfan syndrome

Chromosome 15 Risk Allele C Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Connective Tissue, Genetic Counseling, Carrier Status, Extracellular Matrix

The aorta tolerates tens of millions of pressure pulses over a lifetime because its wall is reinforced by an elastic scaffold made of microfibrils(https://pubmed.ncbi.nlm.nih.gov/8406497/). Fibrillin-1 is a 2,871-amino-acid glycoprotein encoded by FBN1 on chromosome 15. It contains 47 epidermal growth factor-like...

rs140926439 Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk in APOE ε4 carriers by limiting pathological fibronectin accumulation at the blood-brain barrier

Chromosome 2 Risk Allele T Category Longevity & Aging Tags Alzheimer's, Neurological Risk, Extracellular Matrix, Neurodegeneration, Longevity, Brain Health

Fibronectin 1 (FN1) encodes a large glycoprotein that forms the scaffold of the extracellular matrix around blood vessels. In the brain, fibronectin plays a structural role in the neurovascular unit(https://pubmed.ncbi.nlm.nih.gov/38598053/), helping maintain blood-brain barrier integrity and coordinating the local...

rs143383 Regulatory variant in GDF5 affecting cartilage development and osteoarthritis risk in knees, hips, and spine

Chromosome 20 Risk Allele A Category Fitness & Body Tags Bone & Joint, Cartilage, Inflammation, Aging, Back Pain

The GDF5 gene encodes growth differentiation factor 5(https://pubmed.ncbi.nlm.nih.gov/33522652/), particularly in forming and maintaining cartilage in synovial joints. rs143383 is a C to T transition SNP located in the 5'untranslated region (5'UTR) of the GDF5 gene . This regulatory region controls how much GDF5...

rs1537377 Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the C allele independently increases endometriosis susceptibility, with stronger effects in moderate-to-severe disease stages

Chromosome 9 Risk Allele C Category Endometriosis & Uterine Health Tags Endometriosis, Fertility, Women's Health, Cancer Risk, Tumor Suppressor, Inflammation

The 9p21.3 region of chromosome 9 is one of the most functionally complex loci in the human genome. It encodes three tumor suppressors — p16INK4a, p14ARF (encoded by CDKN2A) and p15INK4b (encoded by CDKN2B)(https://pubmed.ncbi.nlm.nih.gov/23306151/) — and is also home to ANRIL (Antisense Non-coding RNA in the INK4...

rs16944 Promoter variant affecting IL-1 beta production, influencing inflammatory response and cardiovascular disease risk

Chromosome 2 Risk Allele A Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Sepsis, Atherosclerosis, Immune Response

The IL1B gene encodes interleukin-1 beta (IL-1β), one of the most potent pro-inflammatory cytokines in the human body(https://pubmed.ncbi.nlm.nih.gov/29073957/). The rs16944 variant sits in the promoter region at position -511, where it functions as a genetic dimmer switch controlling how much IL-1β your cells...

rs16969968 Nicotinic receptor variant strongly associated with heavy smoking, nicotine dependence, and increased lung cancer risk

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

The CHRNA5 gene encodes the alpha-5 subunit of the nicotinic acetylcholine receptor (nAChR), a critical component of the brain's response to nicotine. The rs16969968 variant(https://pubmed.ncbi.nlm.nih.gov/18385739/) replaces aspartic acid with asparagine at position 398 of the alpha-5 subunit, fundamentally...

rs174541 Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expression and activity, impairing conversion of dietary omega-6 and omega-3 precursors to arachidonic acid and EPA respectively; independently associated with plasma triglyceride levels and omega-3/omega-6 fatty acid ratios.

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

Your body's ability to build long-chain omega-3 and omega-6 fatty acids from dietary precursors hinges on a single enzyme: delta-5 desaturase(https://pubmed.ncbi.nlm.nih.gov/22701466/). rs174541 is an intronic variant in the FADS gene cluster on chromosome 11q12.2 that acts as an independent regulator of how much...

rs1746048 Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T allele reduces circulating CXCL12 chemokine levels and confers protection against coronary artery disease

Chromosome 10 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Atherosclerosis, Heart Disease, Inflammation, Angiogenesis

Beneath the surface of every coronary artery, a biochemical signaling system continuously directs immune cells to sites of injury and repair. At the center of this system is CXCL12(https://www.ncbi.nlm.nih.gov/gene/6387), a chemokine that acts as a powerful attractant for progenitor cells, natural killer cells, and...

rs1800544 Promoter variant that alters alpha-2A adrenergic receptor expression, affecting adrenergic suppression of insulin secretion and lipolysis; C allele carriers show greater susceptibility to antipsychotic- and antidepressant-induced weight gain

Chromosome 10 Risk Allele C Category Appetite & Obesity Tags Appetite, Obesity, Insulin, Metabolic, Antidepressants, Drug Response

Your nervous system uses adrenaline as a metabolic switch — flooding tissues with it during stress to mobilize energy. In two critical tissues, this signal travels through the alpha-2A adrenergic receptor(https://www.ncbi.nlm.nih.gov/snp/rs1800544): pancreatic beta cells, where it suppresses insulin secretion, and...