rs713598

mixedMag 5.5

This is a protein-altering variant in the TAS2R38 gene.

Key Literature Trait Associations

Bitter Taste Perception (PTC/PROP)

rs713598 encodes the amino acid at position 49 of TAS2R38. The G allele creates proline (Pro49, part of the PAV super-taster haplotype), while the C allele creates alanine (Ala49, part of the AVI non-taster haplotype). Together with rs1726866 and rs10246939, this trio determines whether you perceive bitter flavors intensely or barely notice them.

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-50

Large GWAS

Barragán R et al. “Bitter, Sweet, Salty, Sour and Umami Taste Perception Decreases with Age: Sex-Specific Analysis, Modulation by Genetic Variants and Taste-Preference Associations in 18 to 80 Year-Old Subjects.” Nutrients (2018)

Allele C

OR —

p 1.4e-50

N 1,020

Large GWAS

European

Deshaware S et al. “Genetic variation in bitter taste receptor gene TAS2R38, PROP taster status and their association with body mass index and food preferences in Indian population.” Gene (2017)

Allele C

OR —

p —

N 393

Candidate gene study

South Asian

Perna S et al. “Association of the bitter taste receptor gene TAS2R38 (polymorphism RS713598) with sensory responsiveness, food preferences, biochemical parameters and body-composition markers. A cross-sectional study in Italy.” International Journal of Food Sciences and Nutrition (2018)

Allele C

OR —

p 5.0e-2

N 118

Candidate gene study

European

Dental caries

The G allele (AVI/non-taster haplotype) of rs713598 is associated with higher caries experience. A systematic review and meta-analysis of 4,032 individuals found that heterozygous CG genotype carriers had significantly lower caries risk compared to GG homozygotes (OR = 0.35, 95% CI 0.17–0.75). The proposed mechanism involves reduced bitter taste sensitivity leading to higher sugar and fermentable carbohydrate intake among non-tasters. Evidence is preliminary and requires replication in diverse populations.

Chisini LA et al. “Single nucleotide polymorphisms of taste genes and caries: a systematic review and meta-analysis.” Acta Odontologica Scandinavica (2021)

Allele G

OR 0.35

p —

N 4,032

Meta-analysis

multi-ancestry

Body mass index

Non-taster status (GG genotype, AVI haplotype) has been hypothesized to promote higher BMI through reduced bitter taste sensitivity and consequently higher intake of calorie-dense foods. A Mendelian randomization study using rs713598 as an instrumental variable in 3,778 children found a causal association between non-taster status and higher BMI and body fat in girls aged 6, but no effect in boys. Studies in adults have generally not confirmed this association, and a large Indian cohort found no significant correlation between rs713598 genotype and BMI.

Bouthoorn SH et al. “Genetic taste blindness to bitter and body composition in childhood: a Mendelian randomization design.” International Journal of Obesity (2005) (2014)

Allele G

OR —

p —

N 3,778

Preliminary work

European

Allele G

OR —

p —

N 393

Candidate gene study

South Asian

Alcohol consumption

The C allele (taster/PAV haplotype) of rs713598 has been associated with reduced alcohol consumption and preference, plausibly because PAV tasters perceive ethanol as more bitter. A large phenome-wide study in up to 445,779 UK Biobank participants found bitter-sensitive TAS2R38 alleles linked to reduced preference for whiskey, red wine, and spirits. A systematic review of 17 studies concluded findings remain inconclusive, and a study of 402 college students found no significant association after adjusting for ethnicity and sex. The association is biologically plausible but evidence is not yet consistent.

Kurshed AAM et al. “The Impact of Taste Preference-Related Gene Polymorphisms on Alcohol Consumption Behavior: A Systematic Review.” International Journal of Molecular Sciences (2022)

Allele C

OR —

p —

Candidate gene study

multi-ancestry

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

Allele C

OR —

β 0.041 ±0.004

p 5.0e-29

N 445,779

Large GWAS

European

Kurshed AAM et al. “Taste Preference-Related Genetic Polymorphisms Modify Alcohol Consumption Behavior of the Hungarian General and Roma Populations.” Genes (2023)

Allele C

OR —

β -0.136

p 2.8e-2

N 797

Preliminary work

European

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GWAS Catalog Trait Associations (3)

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

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ClinVar annotation

Drug Response

1 submitter1 publication

Phenylthiocarbamide tasting

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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