Common polymorphisms in WNT10A affect tooth morphology as well as hair shape

被引:41
作者
Kimura, Ryosuke [1 ]
Watanabe, Chiaki [1 ]
Kawaguchi, Akira [1 ]
Kim, Yong-Il [2 ]
Park, Soo-Byung [2 ]
Maki, Koutaro [3 ]
Ishida, Hajime [1 ]
Yamaguchi, Tetsutaro [3 ]
机构
[1] Univ Ryukyus, Grad Sch Med, Dept Human Biol & Anat, Nishihara, Okinawa 9030215, Japan
[2] Pusan Natl Univ, Dent Hosp, Dept Orthodont, Yangsan 626787, Kyeongsangnamdo, South Korea
[3] Showa Univ, Sch Dent, Dept Orthodont, Ota Ku, Tokyo 1458515, Japan
基金
日本学术振兴会;
关键词
ONYCHO-DERMAL DYSPLASIA; MAJOR HUMAN-POPULATIONS; ECTODERMAL DYSPLASIA; POSITIVE SELECTION; ASIAN POPULATIONS; SIGNALING PATHWAY; MAMMALIAN TOOTH; SKIN APPENDAGE; DENTAL TRAITS; EDAR VARIANT;
D O I
10.1093/hmg/ddv014
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Hair and teeth are appendages of ectodermal origin, and there are common molecular backgrounds involved in their formation. To date, it has been revealed that a non-synonymous polymorphismin EDAR has effects on the morphological variation in both hair and teeth. Previous association studies have confirmed that single-nucleotide polymorphisms (SNPs) in/near THADA, FRAS1, WNT10A, NAF1 and FGFR2 are associated with hair morphology. In this study, we thus examined whether these SNPs are also associated with dental characteristics. We measured metric dental traits including crown size and also evaluated non-metric dental traits using plaster casts obtained from subjects (272 Japanese and 226 Koreans). DNA samples were prepared from the subjects and genotyped for the hair morphology-associated SNPs. We observed a significant association of crown size with an SNP in WNT10A (rs7349332), but not with SNPs in other genes. Therefore, we further examined four SNPs within and around WNT10A, among which rs10177996 had the strongest association with dental traits. World distribution of the derived allele in rs10177996, which is associated with larger teeth, showed that Eurasians have a higher allele frequency than Africans. Together with previous studies on hair morphology, this study demonstrated that common variations in WNT10A have pleiotropic effects on the morphology of ectodermal appendages.
引用
收藏
页码:2673 / 2680
页数:8
相关论文
共 55 条
[1]   Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia:: The odonto-onycho-dermal dysplasia [J].
Adaimy, Lynn ;
Chouery, Eliane ;
Megarbane, Hala ;
Mroueh, Salman ;
Delague, Valerie ;
Nicolas, Elsa ;
Belguith, Hanen ;
de Mazancourt, Philippe ;
Megarbane, Andre .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) :821-828
[2]   Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations [J].
Arte, Sirpa ;
Parmanen, Satu ;
Pirinen, Sinikka ;
Alaluusua, Satu ;
Nieminen, Pekka .
PLOS ONE, 2013, 8 (08)
[3]   Haploview: analysis and visualization of LD and haplotype maps [J].
Barrett, JC ;
Fry, B ;
Maller, J ;
Daly, MJ .
BIOINFORMATICS, 2005, 21 (02) :263-265
[4]   WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes [J].
Bohring, Axel ;
Stamm, Thomas ;
Spaich, Christiane ;
Haase, Claudia ;
Spree, Kerstin ;
Hehr, Ute ;
Hoffmann, Mandy ;
Ledig, Susanne ;
Sel, Saadettin ;
Wieacker, Peter ;
Roepke, Albrecht .
AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (01) :97-105
[5]   Analysis of epithelial-mesenchymal interactions in the initial morphogenesis of the mammalian tooth [J].
Dassule, HR ;
McMahon, AP .
DEVELOPMENTAL BIOLOGY, 1998, 202 (02) :215-227
[6]   Relationship between impacts attributed to malocclusion and psychological stress in young Japanese adults [J].
Ekuni, Daisuke ;
Furuta, Michiko ;
Irie, Koichiro ;
Azuma, Tetsuji ;
Tomofuji, Takaaki ;
Murakami, Takashi ;
Yamashiro, Takashi ;
Ogura, Toshio ;
Morita, Manabu .
EUROPEAN JOURNAL OF ORTHODONTICS, 2011, 33 (05) :558-563
[7]   Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits [J].
Eriksson, Nicholas ;
Macpherson, J. Michael ;
Tung, Joyce Y. ;
Hon, Lawrence S. ;
Naughton, Brian ;
Saxonov, Serge ;
Avey, Linda ;
Wojcicki, Anne ;
Pe'er, Itsik ;
Mountain, Joanna .
PLOS GENETICS, 2010, 6 (06) :1-20
[8]  
EVANS R, 1987, EUR J ORTHODONT, V9, P314
[9]   ODONTOONYCHODERMAL DYSPLASIA - A PREVIOUSLY APPARENTLY UNDESCRIBED ECTODERMAL DYSPLASIA [J].
FADHIL, M ;
GHABRA, TA ;
DEEB, M ;
KALOUSTIAN, VMD .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 14 (02) :335-346
[10]   A second generation human haplotype map of over 3.1 million SNPs [J].
Frazer, Kelly A. ;
Ballinger, Dennis G. ;
Cox, David R. ;
Hinds, David A. ;
Stuve, Laura L. ;
Gibbs, Richard A. ;
Belmont, John W. ;
Boudreau, Andrew ;
Hardenbol, Paul ;
Leal, Suzanne M. ;
Pasternak, Shiran ;
Wheeler, David A. ;
Willis, Thomas D. ;
Yu, Fuli ;
Yang, Huanming ;
Zeng, Changqing ;
Gao, Yang ;
Hu, Haoran ;
Hu, Weitao ;
Li, Chaohua ;
Lin, Wei ;
Liu, Siqi ;
Pan, Hao ;
Tang, Xiaoli ;
Wang, Jian ;
Wang, Wei ;
Yu, Jun ;
Zhang, Bo ;
Zhang, Qingrun ;
Zhao, Hongbin ;
Zhao, Hui ;
Zhou, Jun ;
Gabriel, Stacey B. ;
Barry, Rachel ;
Blumenstiel, Brendan ;
Camargo, Amy ;
Defelice, Matthew ;
Faggart, Maura ;
Goyette, Mary ;
Gupta, Supriya ;
Moore, Jamie ;
Nguyen, Huy ;
Onofrio, Robert C. ;
Parkin, Melissa ;
Roy, Jessica ;
Stahl, Erich ;
Winchester, Ellen ;
Ziaugra, Liuda ;
Altshuler, David ;
Shen, Yan .
NATURE, 2007, 449 (7164) :851-U3