rs10246939

badMag 6.5

This is a variant in the TAS2R38 gene that changes a isoleucine to an valine.

Key Literature Trait Associations

Bitter Taste Perception (PROP/PTC)

TAS2R38 encodes a bitter taste receptor for compounds in vegetables like Brussels sprouts, broccoli, and kale. Three SNPs — rs713598, rs1726866, and rs10246939 — define the PAV (taster) and AVI (non-taster) haplotypes. This SNP determines position 296 (Ile vs Val). People with at least one PAV copy perceive bitter flavors more intensely. Non-tasters (AVI/AVI) may eat more bitter vegetables overall. This SNP must be interpreted alongside rs713598 and rs1726866 for full haplotype assignment.

“Bivariate genome-wide association analysis strengthens the role of bitter receptor clusters on chromosomes 7 and 12 in human bitter taste”

Allele C

OR —

β 0.390 ±0.023

p 2.0e-62

N 1,999

Large GWAS

European (Australian twins)

Kim UK et al. “Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide.” Science (new York, N.y.) 299(5610):1221-1225 (2003)

Allele C

OR —

p 1.0e-20

Large GWAS

“Phenome-wide investigation of dietary and health outcomes associated with bitter taste receptor gene TAS2R38”

Allele C

OR —

p —

N 445,779

Preliminary work

European (UK Biobank)

“GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics”

Allele C

OR —

p 2.0e-62

N 608

Small GWAS

Brazilian ancestry

Food liking

PAV tasters (A allele at rs10246939) show reduced liking for bitter, pungent, and alcoholic foods and beverages compared to AVI non-tasters. A large GWAS of food-liking in 159,571 UK Biobank participants (p=7×10⁻¹¹ to 1×10⁻¹⁵) identified rs10246939 as a significant locus for salty food and wine liking. A PheWAS in ~446K UK Biobank participants further showed bitter-sensitive alleles associate with lower consumption of horseradish, alcohol, and grapefruit. These findings indicate that TAS2R38 genotype shapes dietary patterns through altered sensory hedonic response.

May-Wilson S et al. “Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits.” Nature Communications 13(1):2743 (2022)

Allele A

OR —

β 0.028 ±0.004

p 1.0e-15

N 159,571

Large GWAS

European (UK Biobank)

“Phenome-wide investigation of dietary and health outcomes associated with bitter taste receptor gene TAS2R38”

Allele A

OR —

p —

N 445,779

Preliminary work

European (UK Biobank)

“Bitter Taste Receptor TAS2R38 Genetic Variation (rs10246939), Dietary Nutrient Intake, and Bio-Clinical Parameters in Koreans”

Allele A

OR —

p 7.0e-3

N 3,502

Preliminary work

East Asian (Korean)

Chronic rhinosinusitis

TAS2R38 is expressed in airway epithelium where it mediates innate immune responses via nitric oxide production and enhanced mucociliary clearance. AVI non-tasters (G allele at rs10246939) lack functional TAS2R38 signaling, impairing defense against gram-negative sinonasal bacteria. A Polish case-control study found AVI haplotypes 1.5× more frequent in chronic rhinosinusitis with nasal polyps patients versus controls (OR=1.43, p=0.02). The effect was haplotype-level rather than SNP-specific, but rs10246939 is a primary determinant of AVI status.

“TAS2R38 Bitter Taste Receptor Polymorphisms in Patients with Chronic Rhinosinusitis with Nasal Polyps: Preliminary Data in Polish Population”

Allele G

OR 1.43

p 2.0e-2

N 544

Preliminary work

European (Polish)

Smoking initiation

A genome-wide significant association between rs10246939-C (AVI/non-taster allele) and smoking initiation was identified in a landmark multi-ancestry GWAS of 2.66 million individuals (p=4×10⁻¹⁰, beta=0.00545). The non-taster allele is linked to reduced bitterness perception of tobacco smoke, potentially lowering the aversive sensory barrier to initiating smoking. This association is consistent with broader evidence that TAS2R38 non-tasters show lower sensory aversion to chemically bitter stimuli including nicotine and alcohol.

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)

Allele C

OR —

β 0.005 ±0.001

p 4.0e-10

N 2,669,029

Large GWAS

multi-ancestry

▶

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

▶

ClinVar annotation

Drug Response

1 submitter1 publication

Phenylthiocarbamide tasting

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…