Research — GeneOps

rs121908677 Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; homozygosity abolishes intestinal and renal transport of lysine, arginine, and ornithine, causing lysinuric protein intolerance

Chromosome 14 Risk Allele A Category Metabolic Enzymes & Rare Disorders Tags Micronutrients, Carrier Status, Genetic Counseling, Bone Health, Lung Health, Metabolism

Three amino acids — lysine, arginine, and ornithine — share a specialized transport system for crossing the intestinal wall and for reabsorption in the kidney tubule. That system is y+LAT1, encoded by the SLC7A7 gene. When both copies of SLC7A7 carry loss-of-function variants, cationic amino acids cannot exit the...

rs121918387 Single-nucleotide deletion in APOB creating a truncated apolipoprotein B (ApoB-67) — carriers have dramatically reduced LDL and total cholesterol with strong cardiovascular protection, but face risk of hepatic steatosis and fat-soluble vitamin deficiency

Chromosome 2 Risk Allele D Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, Liver Health, Vitamin D, Vitamin E

Apolipoprotein B (ApoB) is the structural backbone of every VLDL and LDL particle(https://pubmed.ncbi.nlm.nih.gov/12639976/). Without functional ApoB, the liver cannot export triglycerides, and without efficient VLDL secretion, fat accumulates within hepatocytes. The rs121918387 variant introduces a single thymine...

rs12696304 Regulatory variant near the telomerase RNA gene associated with shorter telomeres and accelerated cellular aging

Chromosome 3 Risk Allele G Category Longevity & Aging Tags Mental Health, Cardiovascular, Diet

Telomeres are protective caps on the ends of your chromosomes, like the plastic tips on shoelaces that prevent them from fraying. Each time your cells divide, your telomeres get slightly shorter — a natural part of aging. TERC (telomerase RNA component) is a critical non-coding RNA that forms the template for...

rs12704795 Intronic PON2 haplotype tag; the A allele is associated with reduced intracellular antioxidant protection in vascular and renal cells, with the CC genotype conferring 32% lower risk of diabetic microalbuminuria versus AA homozygotes

Chromosome 7 Risk Allele A Category Vascular Inflammation & Remodeling Tags Oxidative Stress, Cardiovascular, Atherosclerosis, Mitochondria, Antioxidants, Renal Function

Every cell lining your arteries and every macrophage that patrols your vessel walls faces a continuous threat from oxidative stress — the accumulation of reactive oxygen species that damage lipids, proteins, and DNA. Paraoxonase 2 (PON2) is one of the primary defenses operating from within these cells. Unlike its...

rs12970134 Near-gene variant ~188kb downstream of MC4R associated with increased waist circumference, insulin resistance, and obesity risk through the same regulatory block as rs17782313

Chromosome 18 Risk Allele A Category Appetite & Obesity Tags Appetite, Obesity, Metabolic, Insulin Resistance, Cardiovascular, Hormones

The melanocortin-4 receptor (MC4R) is the brain's central appetite brake, translating signals from leptin and melanocortin hormones into "stop eating" commands. rs12970134 lies in the same regulatory region() as the better-known rs17782313, and the two variants are in moderate-to-high linkage disequilibrium() in...

rs13394619 Intronic variant in GREB1, an estrogen-responsive gene; the G allele is associated with increased risk of endometriosis, particularly moderate-to-severe disease, across European and East Asian populations

Chromosome 2 Risk Allele G Category Endometriosis & Uterine Health Tags Endometriosis, Fertility, Reproductive Health, Estrogen, Hormones, Women's Health

Endometriosis — tissue similar to the uterine lining growing outside the uterus — affects an estimated 10% of women of reproductive age and accounts for a substantial share of chronic pelvic pain and infertility. The condition is driven by estrogen(https://pubmed.ncbi.nlm.nih.gov/22884659/) and sustained by immune...

rs13407913 Intronic variant in the adenylyl cyclase 3 gene, which encodes a cAMP-producing enzyme essential for hypothalamic ciliary signaling that regulates appetite and body weight

Chromosome 2 Risk Allele G Category Fitness & Body Tags Obesity, Appetite, Fat Metabolism, Metabolic, Diabetes, Insulin

Inside the neurons that govern hunger and body weight in the hypothalamus, a tiny hair-like structure called the primary cilium(https://pubmed.ncbi.nlm.nih.gov/30101502/) serves as the master receiver for satiety hormones. The ADCY3 gene encodes adenylyl cyclase 3(https://pubmed.ncbi.nlm.nih.gov/29311636/), a...

rs1360590 Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility region for coronary artery disease and periodontitis; the C allele elevates inflammatory signaling through ANRIL dysregulation and increases susceptibility to aggressive and chronic periodontitis

Chromosome 9 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Atherosclerosis, Inflammation, Periodontal Disease, Heart Disease, Inflammaging

The 9p21.3 locus on chromosome 9 is the most replicated common genetic risk region for coronary artery disease (CAD) ever identified — and it doubles as a susceptibility locus for periodontitis. rs1360590 sits within an intron of CDKN2B-AS1 (ANRIL)(https://pubmed.ncbi.nlm.nih.gov/29868613/), one of several tag SNPs...

rs137852689 Pathogenic STAR variant that abolishes steroidogenic acute regulatory protein activity, causing lipoid congenital adrenal hyperplasia — the most severe form of CAH, with absent cortisol, aldosterone, and sex steroid production

Chromosome 8 Risk Allele G Category Reproductive Hormones Tags Reproductive Health, Hormones, Steroid Hormones, Fertility, Cortisol, Stress Response

The steroidogenic acute regulatory protein (StAR) performs one of the most consequential jobs in human physiology: it shuttles cholesterol across the outer mitochondrial membrane into the matrix, where the enzyme P450scc converts it into pregnenolone — the universal precursor for every steroid hormone in the body....

rs148234606 Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishes cellular vitamin B2 uptake, causing Brown-Vialetto-Van Laere syndrome type 2; high-dose riboflavin supplementation can dramatically reverse neurological decline when started early.

Chromosome 8 Risk Allele C Category Vitamins & Nutrient Absorption Tags B Vitamins, Vitamins, Carrier Status, Neurological Risk, Micronutrients, Sensorineural

Inside the blood-brain barrier, a protein called RFVT2 (encoded by SLC52A2) works as the primary gate that moves riboflavin — vitamin B2 — from the bloodstream into neurons. Without it, brain and brainstem cells starve for the vitamin that powers FAD- and FMN-dependent enzymes at the core of cellular energy...