Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F16%3A00472113" target="_blank" >RIV/68378050:_____/16:00472113 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1371/journal.pgen.1006174" target="_blank" >http://dx.doi.org/10.1371/journal.pgen.1006174</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pgen.1006174" target="_blank" >10.1371/journal.pgen.1006174</a>

Result language

angličtina

Original language name

Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape

Original language description

The human face is a complex assemblage of highly variable yet clearly heritable anatomic structures that together make each of us unique, distinguishable, and recognizable. Relatively little is known about the genetic underpinnings of normal human facial variation. To address this, we carried out a large genomewide association study and two independent replication studies of Bantu African children and adolescents from Mwanza, Tanzania, a region that is both genetically and environmentally relatively homogeneous. We tested for genetic association of facial shape and size phenotypes derived from 3D imaging and automated landmarking of standard facial morphometric points. SNPs within genes SCHIP1 and PDE8A were associated with measures of facial size in both the GWAS and replication cohorts and passed a stringent genomewide significance threshold adjusted for multiple testing of 34 correlated traits. For both SCHIP1 and PDE8A, we demonstrated clear expression in the developing mouse face by both whole-mount in situ hybridization and RNA-seq, supporting their involvement in facial morphogenesis. Ten additional loci demonstrated suggestive association with various measures of facial shape. Our findings, which differ from those in previous studies of European-derived whites, augment understanding of the genetic basis of normal facial development, and provide insights relevant to both human disease and forensics.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

—

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

PLoS Genetics

ISSN

1553-7404

e-ISSN

—

Volume of the periodical

12

Issue of the periodical within the volume

8

Country of publishing house

US - UNITED STATES

Number of pages

19

Pages from-to

—

UT code for WoS article

000382394500010

EID of the result in the Scopus database

—