rs3827760

badMag 5.5

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

Key Literature Trait Associations

Hair Thickness

rs3827760 encodes the Val370Ala substitution in the intracellular death domain of EDAR (ectodysplasin A receptor). The 370A variant has gain-of-function properties, producing stronger NF-kB signalling. This leads to enlarged hair follicle placodes during embryogenesis, resulting in thicker, rounder cross-section hair shafts characteristic of East Asian hair morphology. The C allele is found at ~70-90% frequency in East Asian and Native American populations but is essentially absent from Europeans and Africans. It is also the primary genetic determinant of shovel-shaped incisors.

Mou C. et al. “Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form” Human Mutation (2008)

Allele C

OR —

p —

Candidate gene study

East Asian (transgenic mouse model)

Fujimoto A et al. “A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.” Human Genetics 124(2):179-185 (2008)

Allele C

OR —

p 7.7e-10

Large GWAS

Endo C et al. “Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.” Scientific Reports 8(1):8974 (2018)

Allele C

OR —

p 1.7e-9

N 11,311

Large GWAS

East Asian (Japanese)

Sijie Wu et al. “Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations” Human Genetics (2016)

Allele C

OR —

p 4.7e-16

N 3,608

Large GWAS

East Asian (Han Chinese, Uyghur)

Shovel-shaped incisors

The EDAR 370A (C) allele is strongly associated with shovel-shaped incisors, a defining dental characteristic of East Asian and Native American populations. In Japanese subjects, each additional copy of the 1540C allele corresponded to higher shoveling grade (P = 7.7×10⁻¹⁰), explaining ~18.9% of total phenotypic variance — approximately one-quarter of estimated heritability. A meta-analysis combining Korean and Japanese samples further confirmed associations with double-shoveling, increased mesiodistal crown dimensions in anterior teeth, and hypoconulid presence in lower second molars, consistent with EDAR's pleiotropic role in ectodermal patterning.

Kimura R et al. “A common variation in EDAR is a genetic determinant of shovel-shaped incisors.” American Journal of Human Genetics (2009)

Allele C

OR —

p 7.7e-10

Large GWAS

East Asian (Japanese)

Park JH et al. “Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits.” Journal of Human Genetics (2012)

Allele C

OR —

p —

Candidate gene study

East Asian (Korean and Japanese)

Androgenetic alopecia

The EDAR 370A (C) allele has been associated with increased risk of androgenetic alopecia in GWAS studies, with an odds ratio of approximately 2.24 (95% CI 1.68–2.99, P = 1×10⁻⁸) and a separate beta-coefficient association at P = 1×10⁻¹⁴. The biological basis may relate to EDAR's role in hair follicle development and maintenance, though the mechanism by which a gain-of-function ectodermal variant increases alopecia risk is not fully established. These associations are primarily observed in East Asian population samples where the C allele is common.

Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)

Allele C

OR 2.24

p 1.0e-8

N 52,000

Meta-analysisLarge GWAS

European (UK Biobank)

Ear morphology

GWAS data from the GWAS Catalog show that rs3827760-G is associated with reduced ear protrusion (beta = −0.108, P = 1×10⁻¹⁰), reduced helix rolling (beta = −0.103, P = 1×10⁻¹²), altered lobe size (beta = −0.117, P = 1×10⁻¹²), and broader facial morphology variation (P = 2×10⁻¹³). These findings extend EDAR's known pleiotropic effects beyond hair and teeth to external ear architecture, consistent with EDAR's embryonic role in patterning surface ectodermal appendages. The G allele (encoding ancestral 370V) is associated with reduced values on these morphological measures.

Endo C et al. “Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.” Scientific Reports 8(1):8974 (2018)

Allele G

OR —

β -0.108

p 1.0e-10

N 11,311

Large GWAS

East Asian (Japanese)

Li Y et al. “EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population.” Human Genetics (2019)

Allele G

OR —

p 2.4e-5

N 612

Preliminary work

Eurasian (European-Asian admixed)

▶

GWAS Catalog Trait Associations (11)

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

▶

ClinVar annotation

Benign★★★☆

10 submitters5 publications

Hair morphology 1, hair thickness; not specified; Hypohidrotic Ectodermal Dysplasia, Dominant; Non-syndromic oligodontia; Hypohidrotic ectodermal dysplasia; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; not provided; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

View on ClinVar →

▶

Research that mentions this SNP (4)

▶

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

▶

The adaptive variant EDARV370A is associated with straight hair in East Asians

AssociationN=1,718Jingze Tan et al.(2013)· Human Genetics

This study examines the association between the EDAR V370A variant (rs3827760) and straight hair phenotype in East Asian populations. Using 1,718 individuals from four East Asian populations (Han, Tibetan, Mongolian, Li), the researchers found significant associations between the 370A allele and straight hair in Han (p = 2.90 × 10⁻⁶, OR = 2.567), Tibetan (p = 3.07 × 10⁻², OR = 1.616), and Mongolian (p = 1.03 × 10⁻⁵, OR = 4.767) populations. Combined analysis across all populations showed very strong association (p = 5.18 × 10⁻¹⁰, OR = 2.05), supporting an additive genetic model. The findings suggest distinct biological mechanisms for straight hair in East Asia versus Europe.

Traits studied:Hair straightnessStraight hair

PubMed DOI Metascience Observatory

▶

Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancer

AssociationN=1,651Shama C. Buch et al.(2012)· Molecular Carcinogenesis

This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.

Traits studied:AdenocarcinomaLung cancerNon-small cell lung cancerSmall cell lung cancerSmoking-related lung cancerSquamous cell carcinoma

PubMed DOI Metascience Observatory

▶

Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

FunctionalMou C. et al.(2008)· Human Mutation

This functional study demonstrates that EDAR rs3827760 (p.Val370Ala) enhances EDAR signaling output approximately 2-fold in vitro and, when overexpressed in transgenic mice via increased gene copy number, converts hair morphology to the East Asian phenotype including increased thickness (10-25% diameter increase), straightness, and circular cross-section. The work explains how a single positive-selected variant in East Asians alters multiple hair fiber characteristics through elevated embryonic and postnatal EDAR signaling.

Traits studied:Hair fiber cross-sectional shapeHair morphologyHair straightnessHair thickness

rs3827760

Key Literature Trait Associations

Hair Thickness

Shovel-shaped incisors

Androgenetic alopecia

Ear morphology

GWAS Catalog Trait Associations (11)

ClinVar annotation

Research that mentions this SNP (4)

Community Wiki

Comments