|(C;C)||2||straighter, thicker hair, and increased odds of having shovel-shaped incisors|
|(C;T)||1||increased odds of straighter, thicker hair as well as shovel-shaped incisors|
|(T;T)||0||common in clinvar|
The rs3827760(C) allele is far more prevalent in East Asians than in any other population, and it is used as such in ancestry tests [PMID 22749789]. There are at least three physical characteristics that have been linked to this allele, and pretty much all in a copy-dependent manner as well (inheriting both alleles leads to a stronger expression than inheriting one):
- Hair follicle thickness [PMID 18065779]
- Hair straightness (i.e. lack of curliness) [PMID 23793515]
- Shovel shaped incisors (teeth) [PMID 19804850]
10.1038/ncomms10815 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
gnxp hair thickness for asians
gnxp blog tooth shape among asians
A picture of shovel shaped incisors is at http://www.flickr.com/photos/39602184@N02/3747590190/[PMID 19804850] A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors [PMID 22648185] Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits
|Disease||Hair morphology 1 not specified Hypohidrotic Ectodermal Dysplasia|
|CLNDBN||Hair morphology 1, hair thickness not specified Hypohidrotic Ectodermal Dysplasia, Dominant|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000006216.3, RCV000174399.2, RCV000382959.1,|
[PMID 16255080] A haplotype map of the human genome.
[PMID 18561327] Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.
[PMID 18817904] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.
[PMID 19737746] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific.|
[PMID 22749789] Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies.