rs11803731

This is a synonymous variant in the TCHH gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (3)

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

strand of hair shape

Liu F et al. “Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.” Human Molecular Genetics 27(3):559-575 (2018)

Allele T

OR 0.23

p 2.0e-82

N 16,763

Meta-analysisLarge GWAS

multi-ancestry

hair morphology

Medland SE et al. “Common variants in the trichohyalin gene are associated with straight hair in Europeans.” American Journal of Human Genetics 85(5):750-5 (2009)

Allele A

OR 6.11

p 3.0e-31

N 23,877

Large GWAS

European

coat/hair morphology trait

Ho YYW et al. “Comparison of Genome-Wide Association Scans for Quantitative and Observational Measures of Human Hair Curvature.” Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies 23(5):271-277 (2020)

Allele A

OR 0.24

p 2.0e-17

N 2,225

Large GWAS

European

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Research that mentions this SNP (1)

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Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations

AssociationN=3,608Sijie Wu et al.(2016)· Human Genetics

Genome-wide association study of hair straightness in 2899 Han Chinese and 709 Uyghurs identifies EDAR (rs3827760) as the predominant gene affecting this phenotype in East Asians (P = 4.67 × 10⁻¹⁶ in Han Chinese, P = 1.75 × 10⁻¹² in Uyghurs), explaining 3.66-5.51% of variance. In Uyghurs, both EDAR (OR 0.415) and TCHH (rs11803731, OR 0.575) are associated with hair straightness, but EDAR has a greater effect and shows no significant interaction with TCHH (P = 0.645).

Traits studied:Hair straightnessHair texture

PubMed DOI Metascience Observatory

About TCHH

The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]