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Eur J Hum Genet. 2011 Nov;19(11):1192-7. doi: 10.1038/ejhg.2011.110. Epub 2011 Jun 22.

Genetic determination of human facial morphology: links between cleft-lips and normal variation.

Author information

1
Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands. correspondence@s-boehringer.org

Abstract

Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the hypothesis that genetic loci involved in NSCL/P also influence normal variation in facial morphology. We tested 11 SNPs from 10 genomic regions previously showing replicated evidence of association with NSCL/P for association with normal variation of nose width and bizygomatic distance in two cohorts from Germany (N=529) and the Netherlands (N=2497). The two most significant associations found were between nose width and SNP rs1258763 near the GREM1 gene in the German cohort (P=6 × 10(-4)), and between bizygomatic distance and SNP rs987525 at 8q24.21 near the CCDC26 gene (P=0.017) in the Dutch sample. A genetic prediction model explained 2% of phenotype variation in nose width in the German and 0.5% of bizygomatic distance variation in the Dutch cohort. Although preliminary, our data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology. Moreover, we present a first approach for understanding the genetic basis of human facial appearance, a highly intriguing trait with implications on clinical practice, clinical genetics, forensic intelligence, social interactions and personal identity.

PMID:
21694738
PMCID:
PMC3198142
DOI:
10.1038/ejhg.2011.110
[Indexed for MEDLINE]
Free PMC Article

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