Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese
Jinzhou Med Univ, Sch Humanities & Management, Jinzhou 121001, Liaoning, Peoples R China;Jinzhou Med Univ, Biol Anthropol Inst, 40,Sect 3,Songpo Rd, Jinzhou 121001, Liaoning, Peoples R China;LPKL CPCR, Jinzhou 121001, Liaoning, Peoples R China.
Jinzhou Med Univ, Biol Anthropol Inst, 40,Sect 3,Songpo Rd, Jinzhou 121001, Liaoning, Peoples R China;LPKL CPCR, Jinzhou 121001, Liaoning, Peoples R China.
Jinzhou Med Univ, Biol Anthropol Inst, 40,Sect 3,Songpo Rd, Jinzhou 121001, Liaoning, Peoples R China;LPKL CPCR, Jinzhou 121001, Liaoning, Peoples R China.
Jinzhou Med Univ, Biol Anthropol Inst, 40,Sect 3,Songpo Rd, Jinzhou 121001, Liaoning, Peoples R China;LPKL CPCR, Jinzhou 121001, Liaoning, Peoples R China.
Show others and affiliations
2019 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 138, no 6, p. 601-611Article in journal (Refereed) Published
Abstract [en]

Facial shape differences are one of the most significant phenotypes in humans. It is affected largely by skull shape. However, research into the genetic basis of the craniofacial morphology has rarely been reported. The present study aimed to identify genetic variants influencing craniofacial morphology in northern Han Chinese through whole-exome sequencing (WES). Phenotypic data of the volunteers' faces and skulls were obtained through three-dimensional CT scan of the skull. A total of 48 phenotypes (35 facial and 13 cranial phenotypes) were used for the bioinformatics analysis. Four genetic loci were identified affecting the craniofacial shapes. The four candidate genes are RGPD3, IGSF3, SLC28A3, and USP40. Four single-nucleotide polymorphism (SNP) site mutations in RGPD3, IGSF3, and USP40 were significantly associated with the skull shape (p<1x10(-6)), and three SNP site mutations in RGPD3, IGSF3, and SLC28A3 were significantly associated with the facial shape (p<1x10(-6)). The rs62152530 site mutation in the RGPD3 gene may be closely associated with the nasal length, ear length, and alar width. The rs647711 site mutation in the IGSF3 gene may be closely associated with the nasal length, mandibular width, and width between the mental foramina. The rs10868138 site mutation in the SLC28A3 gene may be associated with the nasal length, alar width, width between tragus, and width between the mental foramina. The rs1048603 and rs838543 site mutations in the USP40 gene may be closely associated with the pyriform aperture width. Our findings provide useful genetic information for the determination of face morphology.

Place, publisher, year, edition, pages
SPRINGER , 2019. Vol. 138, no 6, p. 601-611
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-387733DOI: 10.1007/s00439-019-02008-6ISI: 000470684800005PubMedID: 30968251OAI: oai:DiVA.org:uu-387733DiVA, id: diva2:1330358
Available from: 2019-06-25 Created: 2019-06-25 Last updated: 2019-06-25Bibliographically approved

Open Access in DiVA

fulltext(1486 kB)75 downloads
File information
File name FULLTEXT01.pdfFile size 1486 kBChecksum SHA-512
f9542b7af23da714bfd6d0ccbac52844227464aabd3c9b5593715b4747eadde0af633b63ba3d8c4657abb155cc702608983bcb74e360b1aa56dd36ab43043f8c
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed
By organisation
Plastic Surgery
In the same journal
Human Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 75 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 90 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf