Research — GeneOps

rs12144344 Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circulating vitamin D-binding protein levels through altered glycosylation of DBP

Chromosome 1 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Vitamin D, Micronutrients, Bone Health, Immune Function

Vitamin D does not travel through the bloodstream on its own. Around 85–90% of circulating vitamin D is bound to a carrier protein called vitamin D-binding protein(https://pubmed.ncbi.nlm.nih.gov/24740207/). (VDBP). The rs12144344 variant in the ST6GALNAC3 gene represents an emerging link between the biology of...

rs121918386 Nonsense mutation in APOB creating a premature stop codon at position 2085, producing a truncated apolipoprotein B fragment (ApoB-46) that reduces LDL and VLDL secretion; pathogenic for familial hypobetalipoproteinemia type 1

Chromosome 2 Risk Allele A Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, Liver Health, Vitamins, Carrier Status

Apolipoprotein B-100 (ApoB-100)(https://pubmed.ncbi.nlm.nih.gov/1619387/) is among the largest proteins in the human body. The rs121918386 variant introduces a premature stop codon at amino acid 2085, producing a truncated protein roughly 46% the length of normal ApoB-100. In the lipoprotein assembly pathway, this...

rs12212067 Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription factor binding site that limits monocyte inflammation via a TGFβ1 pathway, dampening pro-inflammatory cytokines and conferring mortality resilience

Chromosome 6 Risk Allele T Category Longevity & Aging Tags Longevity, Aging, Inflammation, Oxidative Stress, Cardiovascular, Autoimmune, Ovarian Reserve, Menopause

Most FOXO3 longevity variants are statistical associations — interesting signals in large cohort studies without a known molecular mechanism. rs12212067 is different. This intronic variant has been mechanistically characterized: the minor G allele creates a binding site for myeloid zinc finger 1 (MZF1), a...

rs12272669 Intergenic variant on chromosome 11q13.4 associated with circulating vitamin B12 levels in genome-wide association studies; the A allele is linked to higher serum B12 concentrations

Chromosome 11 Risk Allele G Category Appetite & Obesity Tags Vitamin B12, B Vitamins, Micronutrients, Methylation, Homocysteine

Vitamin B12 (cobalamin) levels in circulation are controlled by a cascade of transport, absorption, and processing steps — each influenced by genetic variation at multiple points. From gut absorption (FUT2) to cellular delivery (TCN2) to intracellular activation (MMACHC), genome-wide association studies have now...

rs1238574 Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with altered SULT1E1-related outcomes; the C allele, enriched in East Asian populations, has been linked to worse colorectal cancer survival and may influence local estrogen bioavailability through effects on SULT1E1 expression regulation

Chromosome 4 Risk Allele C Category Reproductive Hormones Tags Estrogen Metabolism, Fertility, Endometriosis, Reproductive Health, Women's Health, Cancer Risk

Estrogens do not simply circulate and act — they are continuously inactivated and reactivated in tissues through a biochemical toggle controlled by sulfotransferases and sulfatases. SULT1E1(https://pubmed.ncbi.nlm.nih.gov/33799763/) is the primary enzyme responsible for this inactivation step, with particularly high...

rs12722 Collagen fibril assembly variant linked to soft tissue injury risk and tendon flexibility

Chromosome 9 Risk Allele T Category Fitness & Body Tags Fitness, Injury Risk, Collagen, Tendon Health

Your tendons and ligaments are built from collagen fibrils — rope-like protein structures that give connective tissue its strength and elasticity. Type V collagen, encoded by the COL5A1 gene, acts as a master regulator of this construction process. It controls how thick individual collagen fibrils() grow by...

rs13164856 PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with elevated testosterone levels and modestly increased PCOS risk in women of European ancestry

Chromosome 5 Risk Allele T Category Endometriosis & Uterine Health Tags PCOS, Fertility, Reproductive Health, Gonadotropins, Testosterone, Hormones

On chromosome 5, within a gene-dense region at 5q31.1, lies rs13164856 — a regulatory variant in the vicinity of two notable genes: IRF1 and RAD50. This variant was identified in one of the first large-scale genome-wide association studies of polycystic ovary syndrome (PCOS) in women of European ancestry, and has...

rs1333049 Strongest GWAS signal for coronary artery disease; risk C allele accelerates vascular senescence by dysregulating ANRIL-mediated repression of the p16/p15 cell-cycle-inhibitor cluster at 9p21.3

Chromosome 9 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Diet, Lifestyle, Aging, Longevity, Cholesterol, Atherosclerosis

A single region on chromosome 9 — the 9p21.3 locus — carries the most robustly replicated genetic association with coronary artery disease ever discovered. The rs1333049 variant sits within CDKN2B-AS1, the gene encoding ANRIL(https://pubmed.ncbi.nlm.nih.gov/32293292/), positioned directly adjacent to the...

rs145946881 African lactase persistence variant — MCM6 enhancer SNP that controls LCT expression in East and southern African populations

Chromosome 2 Risk Allele G Category Vitamins & Nutrient Absorption Tags Lactose, Food Sensitivity, Diet, Ancestry-Specific, Micronutrients, Gut Health

Lactase persistence — the ability to digest milk sugar into adulthood — is one of the most dramatic examples of recent human evolution. While the European variant rs4988235 is the most studied, at least five independent mutations arose on separate continents to produce the same outcome. The -14010GC variant...

rs1532423 Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 associated with blood zinc levels in genome-wide association studies; CA1 is a zinc-binding metalloenzyme expressed at very high levels in erythrocytes

Chromosome 8 Risk Allele A Category Uric Acid & Kidney Function Tags Zinc, Minerals, Micronutrients, Immune Function, Vitamins

Most serum zinc tests measure what's circulating in your plasma, but your body's largest zinc reservoir sits inside your red blood cells. The CA1 gene encodes carbonic anhydrase 1( https://www.ncbi.nlm.nih.gov/gene/759), an enzyme whose catalytic core is built around a single tightly-bound zinc ion. This puts CA1 at...