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

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.

Is CCDC26 a Novel Cancer-Associated Long-Chain Non-Coding RNA?

“…3a). A different SNP in the intergenic region bordering CCDC26, rs987525, was linked to cleft palate (45). Notably, cleft palate is also a risk factor of PBT.…”

Reconstruction of images from Gabor graphs with applications in facial image processing

“…The index j enumerates all J = ζ max · ν max wave vector specializations of family Γ. 4) with its center at the wave vector k j . The radius σ k ζ of the circle is one effective standard deviation of the Gaussian in frequency domain that is defining the Gabor wavelet, i. e., the first term of Equation (2.4).…”

“…Permission to publish images was given by patients or their wardens. 4 The list of syndromes and their abbreviations, as well as the number of averaged face graphs, is given in Table 2. As Figure 8(a) shows, averaging face graphs of one syndrome can emphasize prominent facial properties of the syndromes while suppressing facial expressions, illumination conditions, and patient identity.…”

Understanding human diseases with high-throughput quantitative measurement and analysis of molecular signatures

“…More generally, common genetic variants were found associated with higher risks of facial dysmorphisms such as cleft palate and cleft lip [4649]. Interestingly, some cleft lip risk alleles were found associated with facial morphological deviations in parents of patients as well as in normal individuals [50], suggesting the potential use of face examination in disease risk evaluation. In fact, traditional Chinese medicine has long used face examination for general disease diagnosis.…”