Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant

Tan, Jingze; Peng, Qianqian; Li, Jinxi; Guan, Yihui; Zhang, Liping; Jiao, Yi; Yang, Yajun; Wang, SiJia; Jin, Li

doi:10.1007/s11427-014-4654-x

Cited by 24 publications

(17 citation statements)

References 16 publications

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“…For example, I 1 labial curvature and I 2 peg form returned negative genetic, environmental, and phenotypic correlations with double shoveling (Table ), which suggests a different interpretation than the results for shoveling. P values for some of these comparisons were not statistically significant, however, these results seem to corroborate multiple studies highlighting the association between variants of the EDAR gene and the expression of shoveling and double shoveling (Kimura et al, ; Park et al, ; Peng et al, ; Tan et al, ). Kimura et al () also found positive associations between I 1 shoveling, I 2 tuberculum dentale, and C 1 tuberculum dentale and a single nucleotide polymorphism (SNP) in the WNT10A gene.…”

Section: Discussionsupporting

confidence: 79%

Heritability and genetic integration of anterior tooth crown variants in the South Carolina Gullah

Stojanowski

Paul

Seidel

et al. 2018

American J Phys Anthropol

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Additive genetic variation contributes to dental morphological variation, although the estimates are uniformly lower than those observed for odontometrics. Patterns of genetic correlation affirm most standard practices in dental biodistance. Patterns of negative pleiotropy involving lingual and labial crown features suggest a genetic architecture and developmental complex that differentially constrain morphological variation of distinct surfaces of the same tooth crown. These patterns warrant greater consideration and cross-population validation.

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Section: Discussionsupporting

confidence: 79%

Heritability and genetic integration of anterior tooth crown variants in the South Carolina Gullah

Stojanowski

Paul

Seidel

et al. 2018

American J Phys Anthropol

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“…The missense SNP rs3827760 (c.1109T>C [p.Val370Ala]) affects protein activity 31 , 32 and is associated with variation in tooth morphology, hair, sweat gland density, and facial morphology in Asians. 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 This variant was the top SNP in the EDAR region in the meta-analyses, and its frequency differs dramatically across populations (e.g., G allele frequency of <1% in Europeans, 39% in Latin Americans, and >90% in Han Chinese in the 1000 Genomes Project). Adhikari et al.…”

Section: Discussionmentioning

confidence: 99%

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Shaffer¹,

Li²,

Lee³

et al. 2017

The American Journal of Human Genetics

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The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10−8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.

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“…Results of these studies indicate moderate to high heritability for most dental traits, with compelling evidence for modularity throughout the tooth row. Further work within a phenomics framework (see Yong et al, ) has identified associations between genetic markers and tooth size and shape that suggest considerable pleiotropy in the dentition while delineating specific alleles associated with phenotypic trait expression (Haga et al, ; Kimura et al, ; Lee et al, ; Park et al, ; Tan et al, ). Finally, model organism research has identified the molecular signaling mechanisms that help determine the patterning of cusp variation across taxa (Brook, Jernvall, Smith, Hughes, & Townsend, ; Jernvall & Jung, ; Jernvall & Thesleff, ; Kangas, Evans, Thesleff, & Jernvall, ; Kavanagh, Evans, & Jernvall, ; Salazar‐Ciudad & Jernvall, ).…”

Section: Introductionmentioning

confidence: 99%

Comparative performance of deciduous and permanent dental morphology in detecting biological relatives

Paul

Stojanowski

2017

American J Phys Anthropol

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Overall, morphological traits of permanent tooth crowns perform moderately well in distinguishing relatives from non-relatives, but deciduous crown variations may provide a more direct reflection of the underlying genetic structure of intra-site or intra-cemetery samples. These findings have implications for bioarchaeological research and biodistance practices. In particular, morphological traits of the deciduous dentition should be incorporated into standard data collection protocols because of their stronger signal of relatedness.

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Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant

Cited by 24 publications

References 16 publications

Heritability and genetic integration of anterior tooth crown variants in the South Carolina Gullah

Heritability and genetic integration of anterior tooth crown variants in the South Carolina Gullah

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Comparative performance of deciduous and permanent dental morphology in detecting biological relatives

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