Facial morphology, a conspicuous feature of human appearance, is highly heritable. Previous studies on the genetic basis of facial morphology were mainly performed in European-ancestry cohorts (EUR). Applying a data-driven phenotyping and multivariate genome-wide scanning protocol to a large collection of 3D facial images of individuals with East Asian ancestry (EAS), we identified 244 variants in 166 loci (62 novel) associated with typical-range facial variation. A newly proposed polygenic shape analysis indicates that the effects of the variants on facial shape in EAS can be generalized to EUR. Based on this, we further identified 13 variants related to differences between facial shape in EUR and EAS populations. Evolutionary analyses suggest that the difference in nose shape in EUR and EAS populations is caused by a directional selection, mainly due to a local adaptation in Europeans. Our results illustrate the underlying genetic basis for facial differences across populations.
Garnet-based solid electrolytes are highly attractive because of their excellent ionic conductivity and electrochemical stability toward Li metal anodes. However, poor interfacial contact between the garnet electrolyte and electrode leads to a high interfacial impedance, and the resulting inhomogeneous interfacial current distribution expedites the growth of Li dendrites. Here, we propose a practical method to assemble dendrite-free solid-state batteries by coating SnS2 onto Li6.5La3Zr1.5Ta0.5O12 (LLZTO) pellets. The SnS2 layer promotes wettability, homogenizes the space electric field at the interface by an in situ conversion reaction, and can also be used as an excellent electrode. Using this method, we decreased the garnet/Li interfacial impedance to an ultralow extent of ∼17 Ω/cm2, while increasing the critical current density to 1.2 mA/cm2. The Li/LLZTO@SnS2/SnS2 solid-state battery delivers a low interfacial impedance of ∼72 Ω/cm2, a high capacity of ∼717 mAh/g, and excellent cycling stability and rate performance. We believe that the understanding and manipulation strategy of the SnS2 coating layer will shed light on designing an excellent garnet/Li interface and assembling novel all-solid-state batteries.
Vaccinated or not? This is an attitude survey for 'approach-avoidance conflict' under uncertainty. Therefore, measuring people's attitude toward COVID-19 vaccination is relatively distinctive from an attitude over a general conflict. An online survey of 3123 respondents from 30 provincial-level regions -out of 31 -on the Chinese mainland was conducted from January 22 to 27, 2021 to measure their willingness to be vaccinated. We found that over half of the respondents chose the options 'not to be vaccinated now' and 'wait and see before making a vaccination decision,' thereby indicating that people's willingness to be vaccinated is not as optimistic as anticipated in the early stage of vaccination in China. Hence, investigators should carefully select the measuring method to assess the 'true' levels of willingness to accept COVID-19 vaccines. Lastly, the relevant departments should fully predict obstacles to achieve immunity coverage and prepare for the 'vaccine hesitancy' of people in need.
Craniosynostosis (CRS) is a disease with prematurely fused cranial sutures. In the last decade, the whole-exome sequencing (WES) was widely used in Caucasian populations. The WES largely contributed in genetic diagnosis and exploration on new genetic mechanisms of CRS. In this study, we enrolled 264 CRS patients in China. After a 17-gene-panel sequencing designed in the previous study, 139 patients were identified with pathogenic/likely pathogenic (P/LP) variants according to the ACMG guideline as positive genetic diagnosis. WES was then performed on 102 patients with negative genetic diagnosis by panel. Ten P/LP variants were additionally identified in ten patients, increasing the genetic diagnostic yield by 3.8% (10/264). The novel variants in ANKH, H1-4, EIF5A, SOX6, and ARID1B expanded the mutation spectra of CRS. Then we designed a compatible research pipeline (RP) for further exploration. The RP could detect all seven P/LP SNVs and InDels identified above, in addition to 15 candidate variants found in 13 patients with worthy of further study. In sum, the 17-gene panel and WES identified positive genetic diagnosis for 56.4% patients (149/264) in 16 genes. At last, in our estimation, the genetic testing strategy of “Panel-first” saves 24.3% of the cost compared with “WES only”, suggesting the “Panel-first” is an economical strategy.
We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value <5 × 10−8) at 42 genome regions, nine of which have been previously reported. In follow-up analyses, 26 of the 33 novel regions replicate in East Asians, Europeans, or Africans, and one mouse homologous region influences craniofacial morphology in mice. The novel region in 1q32.3 shows introgression from Neanderthals and we find that the introgressed tract increases nasal height (consistent with the differentiation between Neanderthals and modern humans). Novel regions include candidate genes and genome regulatory elements previously implicated in craniofacial development, and show preferential transcription in cranial neural crest cells. The automated approach used here should simplify the collection of large study samples from across the world, facilitating a cosmopolitan characterization of the genetics of facial features.
We report a genome-wide association study for facial features in > 6,000 Latin Americans. We placed 106 landmarks on 2D frontal photographs using the cloud service platform Face++. After Procrustes superposition, genome-wide association testing was performed for 301 inter-landmark distances. We detected nominally significant association (P-value < 5×10− 8) for 42 genome regions. Of these, 9 regions have been previously reported in GWAS of facial features. In follow-up analyses, we replicated 26 of the 33 novel regions (in East Asians or Europeans). The replicated regions include 1q32.3, 3q21.1, 8p11.21, 10p11.1, and 22q12.1, all comprising strong candidate genes involved in craniofacial development. Furthermore, the 1q32.3 region shows evidence of introgression from archaic humans. These results provide novel biological insights into facial variation and establish that automatic landmarking of standard 2D photographs is a simple and informative approach for the genetic analysis of facial variation, suitable for the rapid analysis of large population samples.
Facial morphology, the most conspicuous feature of human appearance, is highly heritable. Previous studies on the genetic basis of facial morphology were mainly performed in European populations. Applying a proven data-driven phenotyping and multivariate genome-wide scanning protocol to the largest collection of 3D facial images of an East Asian population to date, we identified 244 leading variants associated with normal-range facial variation, of which 130 are novel. A newly proposed polygenic shape analysis indicates that the effects of the variants on East Asian facial shape can be generalized into the European population. Based on this analysis, we further identified 13 variants mainly related to differences between European and East Asian facial shape. Natural selection analyses suggest that the difference in European and East Asian nose shape is caused by a directional selection, mainly due to a local adaptation in Europeans. Our results expand the knowledge of human facial genetics and illustrates for the first time the underlying genetic basis for facial differences across populations.
Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology traits using deep learning analysis of digital face images in 14,921 individuals from five different cohorts in Europe, Asia, and Latin America. Through GWAS meta-analysis and C-GWASs, a recently introduced method to effectively combine GWASs of many traits, we identified 16 genetic loci involved in various ear phenotypes, eight of which have not been previously associated with human ear features. Our findings suggest that ear morphology shares genetic determinants with other surface ectoderm-derived traits such as facial variation, mono eyebrow, and male pattern baldness. Our results enhance the genetic understanding of human ear morphology and shed light on the shared genetic contributors of different surface ectoderm-derived phenotypes. Additionally, gene editing experiments in mice have demonstrated that knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15) causes deviating mouse ear morphology.
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