Dataset Information

Detecting genetic association of common human facial morphological variation using high density 3D image registration.

ABSTRACT: Human facial morphology is a combination of many complex traits. Little is known about the genetic basis of common facial morphological variation. Existing association studies have largely used simple landmark-distances as surrogates for the complex morphological phenotypes of the face. However, this can result in decreased statistical power and unclear inference of shape changes. In this study, we applied a new image registration approach that automatically identified the salient landmarks and aligned the sample faces using high density pixel points. Based on this high density registration, three different phenotype data schemes were used to test the association between the common facial morphological variation and 10 candidate SNPs, and their performances were compared. The first scheme used traditional landmark-distances; the second relied on the geometric analysis of 15 landmarks and the third used geometric analysis of a dense registration of ?30,000 3D points. We found that the two geometric approaches were highly consistent in their detection of morphological changes. The geometric method using dense registration further demonstrated superiority in the fine inference of shape changes and 3D face modeling. Several candidate SNPs showed potential associations with different facial features. In particular, one SNP, a known risk factor of non-syndromic cleft lips/palates, rs642961 in the IRF6 gene, was validated to strongly predict normal lip shape variation in female Han Chinese. This study further demonstrated that dense face registration may substantially improve the detection and characterization of genetic association in common facial variation.

SUBMITTER: Peng S

PROVIDER: S-EPMC3854494 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Detecting genetic association of common human facial morphological variation using high density 3D image registration.

Peng Shouneng S Tan Jingze J Hu Sile S Zhou Hang H Guo Jing J Jin Li L Tang Kun K

PLoS computational biology 20131205 12

Human facial morphology is a combination of many complex traits. Little is known about the genetic basis of common facial morphological variation. Existing association studies have largely used simple landmark-distances as surrogates for the complex morphological phenotypes of the face. However, this can result in decreased statistical power and unclear inference of shape changes. In this study, we applied a new image registration approach that automatically identified the salient landmarks and ...[more]

PMID: 24339768

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Project description:IntroductionFacial phenotype is influenced by genes and environment; however, little is known about their relative contributions to normal facial morphology. The aim of this study was to assess the relative genetic and environmental contributions to facial morphological variation using a three-dimensional (3D) population-based approach and the classical twin study design.Materials and methods3D facial images of 1380 female twins from the TwinsUK Registry database were used. All faces were landmarked, by manually placing 37 landmark points, and Procrustes registered. Three groups of traits were extracted and analysed: 19 principal components (uPC) and 23 principal components (sPC), derived from the unscaled and scaled landmark configurations respectively, and 1275 linear distances measured between 51 landmarks (37 manually identified and 14 automatically calculated). The intraclass correlation coefficients, rMZ and rDZ, broad-sense heritability (h2), common (c2) and unique (e2) environment contributions were calculated for all traits for the monozygotic (MZ) and dizygotic (DZ) twins.ResultsHeritability of 13 uPC and 17 sPC reached statistical significance, with h2 ranging from 38.8% to 78.5% in the former and 30.5% to 84.8% in the latter group. Also, 1222 distances showed evidence of genetic control. Common environment contributed to one PC in both groups and 53 linear distances (4.3%). Unique environment contributed to 17 uPC and 20 sPC and 1245 distances.ConclusionsGenetic factors can explain more than 70% of the phenotypic facial variation in facial size, nose (width, prominence and height), lips prominence and inter-ocular distance. A few traits have shown potential dominant genetic influence: the prominence and height of the nose, the lower lip prominence in relation to the chin and upper lip philtrum length. Environmental contribution to facial variation seems to be the greatest for the mandibular ramus height and horizontal facial asymmetry.

Project description:Surgical reduction of pelvic dislocation is a challenging procedure with poor long-term prognosis if reduction does not accurately restore natural morphology. The procedure often requires long fluoroscopic exposure times and trial-and-error to achieve accurate reduction. We report a method to automatically compute the target pose of dislocated bones in preoperative CT and provide 3D guidance of reduction using routine 2D fluoroscopy. A pelvic statistical shape model (SSM) and a statistical pose model (SPM) were formed from an atlas of 40 pelvic CT images. Multi-body bone segmentation was achieved by mapping the SSM to a preoperative CT via an active shape model. The target reduction pose for the dislocated bone is estimated by fitting the poses of undislocated bones to the SPM. Intraoperatively, multiple bones are registered to fluoroscopy images via 3D-2D registration to obtain 3D pose estimates from 2D images. The method was examined in three studies: (1) a simulation study of 40 CT images simulating a range of dislocation patterns; (2) a pelvic phantom study with controlled dislocation of the left innominate bone; (3) a clinical case study investigating feasibility in images acquired during pelvic reduction surgery. Experiments investigated the accuracy of registration as a function of initialization error (capture range), image quality (radiation dose and image noise), and field of view (FOV) size. The simulation study achieved target pose estimation with translational error of median 2.3 mm (1.4 mm interquartile range, IQR) and rotational error of 2.1° (1.3° IQR). 3D-2D registration yielded 0.3 mm (0.2 mm IQR) in-plane and 0.3 mm (0.2 mm IQR) out-of-plane translational error, with in-plane capture range of ±50 mm and out-of-plane capture range of ±120 mm. The phantom study demonstrated 3D-2D target registration error of 2.5 mm (1.5 mm IQR), and the method was robust over a large dose range, down to 5 [Formula: see text]Gy/frame (an order of magnitude lower than the nominal fluoroscopic dose). The clinical feasibility study demonstrated accurate registration with both preoperative and intraoperative radiographs, yielding 3.1 mm (1.0 mm IQR) projection distance error with robust performance for FOV ranging from 340 × 340 mm2 to 170 × 170 mm2 (at the image plane). The method demonstrated accurate estimation of the target reduction pose in simulation, phantom, and a clinical feasibility study for a broad range of dislocation patterns, initialization error, dose levels, and FOV size. The system provides a novel means of guidance and assessment of pelvic reduction from routinely acquired preoperative CT and intraoperative fluoroscopy. The method has the potential to reduce radiation dose by minimizing trial-and-error and to improve outcomes by guiding more accurate reduction of joint dislocations.

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Project description:BackgroundMagnetic resonance imaging (MRI), together with histology, is widely used to diagnose and to monitor treatment in oncology. Spatial correspondence between these modalities provides information about the ability of MRI to characterize cancerous tissue. However, registration is complicated by deformations during pathological processing, and differences in scale and information content.Methodology/principal findingsThis study proposes a methodology for establishing an accurate 3D relation between histological sections and high resolution in vivo MRI tumor data. The key features of the methodology are: 1) standardized acquisition and processing, 2) use of an intermediate ex vivo MRI, 3) use of a reference cutting plane, 4) dense histological sampling, 5) elastic registration, and 6) use of complete 3D data sets. Five rat pancreatic tumors imaged by T2*-w MRI were used to evaluate the proposed methodology. The registration accuracy was assessed by root mean squared (RMS) distances between manually annotated landmark points in both modalities. After elastic registration the average RMS distance decreased from 1.4 to 0.7 mm. The intermediate ex vivo MRI and the reference cutting plane shared by all three 3D images (in vivo MRI, ex vivo MRI, and 3D histology data) were found to be crucial for the accurate co-registration between the 3D histological data set and in vivo MRI. The MR intensity in necrotic regions, as manually annotated in 3D histology, was significantly different from other histologically confirmed regions (i.e., viable and hemorrhagic). However, the viable and the hemorrhagic regions showed a large overlap in T2(*)-w MRI signal intensity.ConclusionsThe established 3D correspondence between tumor histology and in vivo MRI enables extraction of MRI characteristics for histologically confirmed regions. The proposed methodology allows the creation of a tumor database of spatially registered multi-spectral MR images and multi-stained 3D histology.

Dataset Information

Detecting genetic association of common human facial morphological variation using high density 3D image registration.

Publications

Detecting genetic association of common human facial morphological variation using high density 3D image registration.

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