EDAR V370A

(EDAR Val370Ala)

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Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific.

Variant evidence
Computational	1	Other variants in this gene are associated with effect on hair thickness. Polyphen gives possible functional effect.

Functional	1	Lower activity of NF-kappaB. See Fujimoto A et al. 2008 (18065779).

Case/Control	4	See Fujimoto A et al. 2008 (18065779).
		See Fujimoto A et al. 2008 (18065779).
Familial		No familial information.
		No familial information.

Clinical importance
Severity	-

Treatability	-

Penetrance	-

Low clinical importance, Likely benign

(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

G @ chr2:109513601: 1.1% (114/10758) in EVS
G @ chr2:108880032: 12.5% (16/128) in GET-Evidence
Frequency shown in summary reports: 1.1% (114/10758)

Publications

C allele (Ala) is associated with larger cross-sectional area in Indonesian sample (p = 5.5 * 10^-3) and Thai-Mai sample (9.5 * 10^-4).

Functional analysis examining the interaction between EDAR and the EDAR-binding death domain adapter protein, EDARADD, which results in activation of NF-kappaB. The C allele showed lower NF-kappaB induced activation of a luciferase reporter, indicating this variant causes lower activity of NF-kappaB.

Genomes

Added in this revision:

Other external references

dbSNP

rs3827760
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the EDAR gene
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic Ectodermal Dysplasia, Autosomal
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDAR

OMIM

Hair morphology 1, hair thickness
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095

PolyPhen-2

Score: 0.485 (possibly damaging)

Web search results (17 hits -- see all)

Positive Selection in East Asians for an EDAR Allele that ...
Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation ... V370A is located in the death domain, a protein interaction module, of EDAR. ...
www.ncbi.nlm.nih.gov/pmc/articles/PMC2374902
PLoS ONE: Positive Selection in East Asians for an EDAR ...
PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF SCIENCE. ... V370A is located in the death domain, a protein interaction module, of EDAR. ...
plosone.org/article/info:doi/10.1371/journal.pone.0002209
Figure 2 : Genome-wide detection and characterization of ...
FIGURE 2. Global distribution of SLC24A5 A111T and EDAR V370A. ... b, EDAR V370A is common in Asia and the Americas, but absent in Europe and Africa. Next figure | Previous ...
nature.com/nature/journal/.../fig_tab/nature06250_F2.html
Figures and Tables : Genome-wide detection and ...
Nature is the international weekly journal of science: a magazine style journal that publishes full-length research papers in all disciplines of science, as well as ...
nature.com/nature/journal/.../fig_tab/nature06250_ft.html
untitled
A mutation encoding a V370A substi- tution in EDAR is near fixation in Asia and absent in ... V370A is common in Asia and the Americas, but absent in Europe and ...
dceg.cancer.gov/files/genomicscourse/sabeti-102007.pdf
OMIM: 604095
By embryonic days 16 and 17, EDAR was expressed in large amounts in the maturing follicles. ... the EDAR gene, resulting in a val370-to-ala (V370A) substitution in ...
www.genome.jp/dbget-bin/www_bget?omim+604095
USACO 日本人論文紹介 2009年9月-12月
Ectodysplasin A receptor (EDAR )は、歯、毛髪、汗腺など外胚葉由来器官の発生に関わる遺伝子であり、近年、非同義多型であるEDAR T1540C(V370A)が毛髪の太さと関連することが示された。また、1540Cの分布は、モンゴロイド特有の形態形質であるシャベル型切歯の分布ともよく一致する。 ...
www.usaco.co.jp/article/past.html
Type III 95%
Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... gruop(s) Added kinase family(s) Removed kinase gruop(s) Removed kinase family(s) ...
www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt

Other in silico analyses

NBLOSUM100 score = 2
GET-Evidence autoscore = 5

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18558-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Sep 23 2010 Madeleine Ball edited article 18065779 summary view
Sep 23 2010 Madeleine Ball edited variant summary view
Sep 23 2010 Madeleine Ball edited article 18065779 summary view
Sep 23 2010 Madeleine Ball edited variant summary view
Jun 23 2010 Madeleine Ball edited article 18704500 summary view
Jun 23 2010 Madeleine Ball edited article 18065779 summary view
Jun 23 2010 Madeleine Ball edited article 18561327 summary view
Jun 23 2010 Madeleine Ball edited article 19804850 summary view
Jun 23 2010 Madeleine Ball edited variant summary view
Jun 23 2010 Madeleine Ball added article 18704500 view
Jun 23 2010 Madeleine Ball added article 18065779 view
Jun 23 2010 Madeleine Ball added article 18561327 view
Jun 23 2010 Madeleine Ball added article 19804850 view
Jun 6 2010 Madeleine Ball edited variant summary view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 18 2010 Madeleine Ball edited variant summary view
Jan 12 2010 Abraham Rosenbaum edited variant summary view
Jan 5 2010 OMIM Importing Robot edited variant summary view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

EDAR V370A - GET-Evidence