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    EDAR ectodysplasin A receptor [ Homo sapiens (human) ]

    Gene ID: 10913, updated on 15-Apr-2019

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The analysis identified significant association (P<0.05 after multiple testing correction) between EDAR V370A mutation and eight facial phenotypes, one chin phenotype and three ear morphology phenotypes.

    [The effect of EDARV370A on facial and ear morphologies in Uyghur population].
    Li Y, Zhao WT, Li D, Tao XM, Xiong ZY, Liu J, Zhang W, Liu HB, Ji AQ, Tang K, Liu F, Li CX.

    10 and five quantitative trait-associated mutations for oxygen saturation (SaO2) and blood platelet count, respectively, are identified at the Edar Receptor (EDAR) locus. rs10865026 and rs3749110 (associated with SaO2 and platelet count, respectively) are functional candidate targets. EDAR has undergone natural selection in recent human history and EDAR variants has an important role in Tibetan high-altitude adaptations.

    Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations.
    Shao J, Raza MS, Zhuoma B, Zeng C.

    Results suggested that SNPs in EDAR could be a pathogenic factor for non-syndromic tooth agenesis. Furthermore, EDAR can be regarded as a marker gene for the risk of tooth agenesis.

    Association between EDAR Polymorphisms and Non-Syndromic Tooth Agenesis in the Chinese Han Population.
    Chen YT, Liu HC, Han D, Liu Y, Feng HL.

    To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 x 10(-12)) and TCHH (rs11803731: P = 1.46 x 10(-3)) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575).

    Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations.
    Wu S, Tan J, Yang Y, Peng Q, Zhang M, Li J, Lu D, Liu Y, Lou H, Feng Q, Lu Y, Guan Y, Zhang Z, Jiao Y, Sabeti P, Krutmann J, Tang K, Jin L, Xu S, Wang S.

    Partial least square path model confirms EDARV370A systematically affect these weakly related ectodermal-derived characteristics, suggesting the pleiotropic effect of EDARV370A mainly plays roles in early embryo development

    EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects.
    Peng Q, Li J, Tan J, Yang Y, Zhang M, Wu S, Liu Y, Zhang J, Qin P, Guan Y, Jiao Y, Zhang Z, Sabeti PC, Tang K, Xu S, Jin L, Wang S.

    Four traits of ear pinna anatomic variation are associated with a functional variant in the EDAR gene, a key regulator of embryonic skin appendage development.

    A genome-wide association study identifies multiple loci for variation in human ear morphology.
    Adhikari K, Reales G, Smith AJ, Konka E, Palmen J, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Fuentes M, Pizarro M, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Calderón R, Rosique J, Cheeseman M, Bhutta MF, Humphries SE, Gonzalez-José R, Headon D, Balding D, Ruiz-Linares A., Free PMC Article

    we have identi fi ed a novel frameshift mutation in an Italian family with autosomal dominant hypohidrotic ectodermal dysplasia resulting in a mild clinical phenotype.

    Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
    Callea M, Willoughby CE, Nieminen P, Di Stazio M, Bellacchio E, Giglio S, Sani I, Vinciguerra A, Maglione M, Tadini G, Clarich G.

    Individuals with a c.1072C > T mutation in the EDAR-gene displayed more hair shaft deformations confirming the role of EDAR for human hair follicle development and postnatal hair follicle cycling.

    Hair shaft structures in EDAR induced ectodermal dysplasia.
    Stecksén-Blicks C, Falk Kieri C, Hägg D, Schmitt-Egenolf M., Free PMC Article

    Confirmed that EDARV370A, a variant that first originated in East Asia about 30000 years ago, played an important role in incisor shoveling in East Asia. This suggests that incisor shoveling in modern East Asians appeared after the late Pleistocene.

    Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant.
    Tan J, Peng Q, Li J, Guan Y, Zhang L, Jiao Y, Yang Y, Wang S, Jin L.

    Individuals with a c.1072C > T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences.

    EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C &gt; T mutation.
    Kieri CF, Bergendal B, Lind LK, Schmitt-Egenolf M, Stecksén-Blicks C., Free PMC Article

    Using whole-exome sequencing we describe a novel homozygous missense mutation in EDAR causing autosomal recessive HED associated with palmoplantar hyperkeratosis and the absence of breasts.

    Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.
    Haghighi A, Nikuei P, Haghighi-Kakhki H, Saleh-Gohari N, Baghestani S, Krawitz PM, Hecht J, Mundlos S.

    Study generated a knockin mouse model and found that, as in humans, hair thickness is increased in EDAR370A mice; new biological targets affected by the mutation were identified, including mammary and eccrine glands. Building on these results EDAR370A was found to be associated with an increased number of active eccrine glands in the Han Chinese.

    Modeling recent human evolution in mice by expression of a selected EDAR variant.
    Kamberov YG, Wang S, Tan J, Gerbault P, Wark A, Tan L, Yang Y, Li S, Tang K, Chen H, Powell A, Itan Y, Fuller D, Lohmueller J, Mao J, Schachar A, Paymer M, Hostetter E, Byrne E, Burnett M, McMahon AP, Thomas MG, Lieberman DE, Jin L, Tabin CJ, Morgan BA, Sabeti PC., Free PMC Article

    This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED.

    A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
    Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, Devi AR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R, Kumar R, Hariharan SV.

    WNT10A and EDAR were each responsible for 16% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

    Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
    Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.

    screening of all the 12 exons and splice junctions of gene EDAR revealed a novel missense mutation (c.1163T>C; p.Ile388Thr) in family A and a novel insertion mutation (c.1014insA; p.V339SfsX6) in family B.

    Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
    Naqvi SK, Wasif N, Javaid H, Ahmad W.

    Data show that 25 different mutations on EDA and EDAR genes were detected in HED patients.

    X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
    Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M.

    a novel compound heterozygous mutation [c.52-2A>G; c.212G>A (p.Cys71Tyr)]; significance of the EDAR signalling pathway in the ectodermal morphogenesis.

    A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.
    Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E.

    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators.., Free PMC Article

    DNA sequence analysis of EDAR gene in a Pakistani family, demonstrating autosomal recessive form of hypohidrotic ectodermal dysplasia, identified a novel homozygous mutation affecting splice donor site of exon 5 [IVS5+1G > or = C] of the gene

    A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
    Wasif N, Tariq M, Ali G, Hassan MJ, Ahmad W.

    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    New genetic associations detected in a host response study to hepatitis B vaccine.
    Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators., NORDIL investigators., BRIGHT Consortium..

    results expand the allelic series for mutations underlying hypohidrotic ectodermal dysplasia

    Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
    Shimomura Y, Wajid M, Weiser J, Kraemer L, Ishii Y, Lombillo V, Bale SJ, Christiano AM.

    an EDAR variant is a genetic determinant of shovel-shaped incisors

    A common variation in EDAR is a genetic determinant of shovel-shaped incisors.
    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., Free PMC Article

    Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

    Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
    Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W.

    Study shows that the derived EDAR370A common in East Asia has a more potent signaling output than the ancestral EDAR370 V; shows that elevation of Edar activity in transgenic mice converts their hair phenotype to the typical East Asian morphology.

    Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.
    Mou C, Thomason HA, Willan PM, Clowes C, Harris WE, Drew CF, Dixon J, Dixon MJ, Headon DJ.

    EDAR is the genetic determinant of hair thickness as well as a strong contributor to hair fiber thickness variation among Asian populations.

    A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.
    Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, Kimura R, Tokunaga K.

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