Common polymorphisms in WNT10A affect tooth morphology as well as hair shape
Common polymorphisms in WNT10A affect tooth morphology as well as hair shape
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DOI：
10.1093/hmg/ddv014
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发表时间：
2015-05-01
影响因子：
3.5
通讯作者：
Yamaguchi, Tetsutaro
中科院分区：
文献类型：
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作者：
Kimura, Ryosuke;Watanabe, Chiaki;Yamaguchi, Tetsutaro
毛发和牙齿是外胚层起源的附属物，它们的形成有共同的分子背景。迄今为止，已经揭示了非同义的多晶型EDAR对毛发和牙齿的形态变化都有影响。先前的关联研究已经证实，THADA、FRAS 1、WNT 10A、NAF 1和FGFR 2中/附近的单核苷酸多态性（SNP）与毛发形态相关。因此，在这项研究中，我们研究了这些SNPs是否也与牙齿特征相关。我们测量了度量牙齿性状，包括牙冠大小，并评估了非度量牙齿性状使用石膏模型从受试者（272名日本人和226名韩国人）。从受试者中制备DNA样本，并对头发形态相关的SNP进行基因分型。我们观察到冠大小与WNT 10A（rs7349332）中的SNP显著相关，但与其他基因中的SNP无关。因此，我们进一步研究了WNT 10A内及其周围的四个SNP，其中rs 10177996与牙齿性状的关联最强。rs 10177996中与较大牙齿相关的衍生等位基因的世界分布表明，欧亚人的等位基因频率高于非洲人。结合先前对毛发形态的研究，本研究表明WNT 10A的常见变异对外胚层附属物的形态具有多效性作用。
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.