A genome-wide association study identifies five loci influencing facial morphology in Europeans
Research output: Contribution to journal › Journal article › Research › peer-review
Documents
- A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
Final published version, 564 KB, PDF document
Monozygotic twins look more alike than dizygotic twins or other siblings, and siblings in turn look more alike than unrelated individuals, indicating that human facial morphology has a strong genetic component. We quantitatively assessed human facial shape phenotypes based on statistical shape analyses of facial landmarks obtained from three-dimensional magnetic resonance images of the head. These phenotypes turned out to be highly promising for studying the genetic basis of human facial variation in that they showed high heritability in our twin data. A subsequent genome-wide association study (GWAS) identified five candidate genes affecting facial shape in Europeans: PRDM16, PAX3, TP63, C5orf50, and COL17A1. In addition, our data suggest that genetic variants associated with NSCL/P also influence normal facial shape variation. Overall, this study provides novel and confirmatory links between common DNA variants and normal variation in human facial morphology. Our results also suggest that the high heritability of facial phenotypes seems to be explained by a large number of DNA variants with relatively small individual effect size, a phenomenon well known for other complex human traits, such as adult body height.
Original language | English |
---|---|
Article number | e1002932 |
Journal | P L o S Genetics |
Volume | 8 |
Issue number | 9 |
Number of pages | 13 |
ISSN | 1553-7390 |
DOIs | |
Publication status | Published - 2012 |
Externally published | Yes |
Number of downloads are based on statistics from Google Scholar and www.ku.dk
ID: 40588364