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Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific.
Other variants in this gene are associated with effect on hair thickness. Polyphen gives possible functional effect.
Lower activity of NF-kappaB.
No familial information.
Low clinical importance, Likely benign
(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
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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).
Mou C, Thomason HA, Willan PM, Clowes C, Harris WE, Drew CF, Dixon J, Dixon
MJ, Headon DJ. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple
fiber characteristics to produce the East Asian hair form. Hum Mutat. 2008
Dec;29(12):1405-11. PubMed PMID: 18561327.
Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, Kimura R,
Tokunaga K. A replication study confirmed the EDAR gene to be a major contributor
to population differentiation regarding head hair thickness in Asia. Hum Genet.
2008 Sep;124(2):179-85. Epub 2008 Aug 13. PubMed PMID: 18704500.
Kimura R, Yamaguchi T, Takeda M, Kondo O, Toma T, Haneji K, Hanihara T,
Matsukusa H, Kawamura S, Maki K, Osawa M, Ishida H, Oota H. A common variation in
EDAR is a genetic determinant of shovel-shaped incisors. Am J Hum Genet. 2009
Oct;85(4):528-35. PubMed PMID: 19804850; PubMed Central PMCID: PMC2756549.
huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr2:109513601