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. 2018 Nov 19;9:554. doi: 10.3389/fgene.2018.00554

Table 1.

Literature review of craniofacial heritability – twin studies.

Study sample Measures and Techniques Effect Reference
NUMBER
79 twin pairs (33 MZ, 46 DZ)
SEX DISTRIBUTION
MZ: 17 male, 16 female
DZ: 14 male, 14 female, 18 male-female
AGE DISTRIBUTION
9-16 years
mean 12.1 years
ETHNIC BACKGROUND
Belgium
CAPTURING TECHNIQUE
2D lateral cephalograms
STATISTICAL ANALYSIS
Model-fitting
FACIAL PHENOTYPE
23 measures (linear, angular)
RANGE
45.3–91.2%
GENETIC DETERMINATION
Total anterior facial height (male)
Anterior cranial base
Nasion horizontal
Incisor superior vertical
Incisor inferior vertical
ENVIRONMENTAL INFLUENCE
Saddle angle
Gonial angle
Relative sagittal position of the mandible and maxilla to the anterior cranial base
NOTES
h2: vertical > horizontal measures
Carels et al., 2001

NUMBER
26 twin pairs (10 MZ, 16 DZ)
SEX DISTRIBUTION
MZ: 5 male, 5 female
DZ: 3 male, 7 female, 6 male-female
AGE DISTRIBUTION
6-42 years
Mean 12 years
ETHNIC BACKGROUND
Mixed ethnicity
CAPTURING TECHNIQUE
3D facial scans
STATISTICAL ANALYSIS
Intrapair differences (no h2-values)
FACIAL PHENOTYPE
18 landmarks
28 measures (linear)
Surface measures (curvature)
GENETIC DETERMINATION
Nasal height and width
Left eye width
Intercanthal width
NOTES
h2: vertical > horizontal measures
High h2 for central midfacial structures (triangular area encompassing the nose, orbital rims, intercanthal area)
Naini and Moss, 2004.

NUMBER
20 twin pairs (10 MZ, 10 DZ)
SEX DISTRIBUTION
MZ: 5 male, 5 female
DZ: 3 male, 7 female
AGE DISTRIBUTION
mean 12 years
CAPTURING TECHNIQUE
3D facial scans
STATISTICAL ANALYSIS
Surface shape analysis (no h2-values)
FACIAL PHENOTYPE
Surface measures (curvature)
GENETIC DETERMINATION
Brow ridges
Nasion
Infraorbital margins
ENVIRONMENTAL INFLUENCE
Chin
Cheeks
Lips
Moss, 2006

NUMBER
50 twin pairs (25 MZ, 25 DZ)
SEX DISTRIBUTION
MZ: 13 male, 12 female
DZ: 13 male, 12 female
AGE DISTRIBUTION
13.4–20.1 years
mean 16.4 years
ETHNIC BACKGROUND
Iran
CAPTURING TECHNIQUE
2D lateral cephalograms
STATISTICAL ANALYSIS
classical correlation analysis
FACIAL PHENOTYPE
33 measures (linear, angular)
RANGE
6–162%
GENETIC DETERMINATION
Gonial angle
Saddle angle
Total anterior facial height
Lower anterior facial height
Relative sagittal position of the mandible
Relative sagittal position of the maxilla
Anterior cranial base
ENVIRONMENTAL INFLUENCE
Upper anterior facial height
Mandibular body length
NOTES
h2: vertical > horizontal measures
High heritability found in lower third of the face
Low heritability for dento-alveolar variables
Amini and Borzabadi-Farahani, 2009

NUMBER
21 twin pairs (10 MZ, 11 DZ)
SEX DISTRIBUTION
Same-sex twins
AGE DISTRIBUTION
5–12 years
Mean 9.3 years
ETHNIC BACKGROUND
United States Caucasian
CAPTURING TECHNIQUE
3D facial scans
STATISTICAL ANALYSIS
Classical correlation analysis
FACIAL PHENOTYPE
13 landmarks
17 measures (PC)
RANGE
90–100%
GENETIC DETERMINATION
Breadth of orbital and nasal structures
Nasal length, breadth and projection
Upper lip height and projection
NOTES
High h2 for central midfacial structures
Weinberg et al., 2013

NUMBER
37 twin pairs (19 MZ, 18 DZ)
SEX DISTRIBUTION
MZ: 9 male, 10 female
DZ: 7 male, 3 female, 8 male-female
AGE DISTRIBUTION
15.5 years
ETHNIC BACKGROUND
United Kingdom (ALSPAC)
CAPTURING TECHNIQUE
3D facial scans
STATISTICAL ANALYSIS
Shape analysis (no h2-values)
FACIAL PHENOTYPE
21 landmarks
Surface measures
GENETIC DETERMINATION
Supraorbital and infraorbital ridges
Forehead, lower lip and nasal bridge (males)
Eyes, philtrum and lower part of the cheeks (females)
ENVIRONMENTAL INFLUENCE
Lower third of the face
NOTES
High h2 for central midfacial structures
Djordjevic et al., 2013

NUMBER
141 twin pairs (90 MZ, 51 DZ)
SEX DISTRIBUTION
MZ: 29 male, 61 female
DZ: 20 male, 31 female
AGE DISTRIBUTION
15.3–39.6 years
Mean 21.7 years
ETHNIC BACKGROUND
Lithuania
CAPTURING TECHNIQUE
2D lateral cephalograms
STATISTICAL ANALYSIS
Model-fitting
FACIAL PHENOTYPE
39 measures (linear, angular)
RANGE
20–84%
GENETIC DETERMINATION
Incision inferior to nasion–basion distance
Sagittal position of the mandible
Gonial angle
ENVIRONMENTAL INFLUENCE
Mandibular body length
Ramus width and height
NOTES
h2: horizontal > vertical measures
h2: form (angular) > size (linear)
h2: skeletal > dentoalveolar measures
High h2 for the ‘polygon of the facial profile similarity’ (area determined by the angles SNB, NSAr, ArGoMe)
Šidlauskas et al., 2016

ETHNIC BACKGROUND
United Kingdom (TwinsUK)
CAPTURING TECHNIQUE
3D facial images
STATISTICAL ANALYSIS
model-fitting
FACIAL PHENOTYPE
21 landmarks
210 pairwise distances
RANGE
0–66%
GENETIC DETERMINATION
nasal region
mouth
de Jong et al., 2016.

NUMBER
604 twin pairs (263 MZ, 341 DZ)
172 unpaired twins (75 MZ, 97 DZ)
SEX DISTRIBUTION
Female twins
CAPTURING TECHNIQUE
3D facial images
STATISTICAL ANALYSIS
Classical correlation analysis
RANGE
Facial form (uPC): 38.8–78.5%
Facial shape (sPC): 30.5–84.8%
Djordjevic et al., 2016
AGE DISTRIBUTION
23.6-86.5 years
Mean 58.8 years
ETHNIC BACKGROUND
United Kingdom (TwinsUK)
FACIAL PHENOTYPE
51 landmarks
1317 measures (linear, scaled PCs, unscaled PCs)
GENETIC DETERMINATION
Lips prominence
Inter-ocular distance
Facial size (height)
Nasal width, prominence & height
ENVIRONMENTAL INFLUENCE
Mandibular ramus height
Horizontal facial asymmetry

NUMBER
476 twin pairs (197 MZ, 279 DZ)
SEX DISTRIBUTION
Female twins
AGE DISTRIBUTION
Mean 59.3 years
ETHNIC BACKGROUND
United Kingdom (TwinsUK)
CAPTURING TECHNIQUE
3D facial images
STATISTICAL ANALYSIS
Model-fitting
FACIAL PHENOTYPE
4,096 landmarks
20 distances (Euclidean, Geodesic)
16,384 surface measures (curvature)
RANGE
0–78.9%
GENETIC DETERMINATION
Chin
Nasal region
Nasolabial folds
Nasion
Upper lips
Zygomatic bones
Inner canthi
ENVIRONMENTAL INFLUENCE
Orbits
Lips
Tsagkrasoulis et al., 2017

NUMBER
1,567 individuals
SEX DISTRIBUTION
female twins
AGE DISTRIBUTION
mean 59.3 years
ETHNIC BACKGROUND
United Kingdom (TwinsUK)
CAPTURING TECHNIQUE
3D facial images
STATISTICAL ANALYSIS
classical correlation analysis
FACIAL PHENOTYPE
PCs for orbital and profile subregion
RANGE
76.1–81.5%
GENETIC DETERMINATION
eyes subregion
profile subregion
Crouch et al., 2018

NUMBER
200 twin pairs (37 MZ, 163 DZ)
ETHNIC BACKGROUND
United Kingdom (TwinsUK)
CAPTURING TECHNIQUE
3D facial images
STATISTICAL ANALYSIS
Model-fitting
FACIAL PHENOTYPE
225 measures (coordinates, distances, areas, angles)
RANGE
0–87%
GENETIC DETERMINATION
Area: (left) corner mouth, (left) alae nasi and (left) outer corner eye
Distance: (right) inner corner eye, (left) alae nasi
Area: (left) corner mouth, (left) alae nasi & (left) outer corner eye
x-coordinate: (left) alae nasi
de Jong et al., 2018

NUMBER
26 twin pairs (13 MZ, 13 DZ)
SEX DISTRIBUTION
MZ: 7 male, 6 female
DZ: 7 male, 6 female
AGE DISTRIBUTION
Mean 39 years
ETHNIC BACKGROUND
Korea
CAPTURING TECHNIQUE
2D lateral cephalograms
STATISTICAL ANALYSIS
Classical correlation analysis
FACIAL PHENOTYPE
23 landmarks
47 measures (linear, angular, ratio)
RANGE
-131.8–219%
GENETIC DETERMINATION
Horizontal relationship between maxilla, mandible and anterior cranial base °
Vertical ratios of anterior facial height
shape of cranial base
Location of occlusal plane within skeletal framework
Vertical relationship among cranial base, palatal plane and mandibular plane °
Lower gonial angle
Mandibular body length
ENVIRONMENTAL INFLUENCE
Anterior and posterior facial height
Ramus height
NOTES
h2: horizontal > vertical > mandible > cranial base > dental measures
Kim et al., 2018.

The first column (‘Study sample’) contains information on the study population. The second column (‘Measures and Techniques’) specifies the methodology. The third column (‘Effect’) summarizes the most important findings of the study (see also column 4 ‘Reference’). Heritability was considered to be low if h2< 35% (i.e., ‘environmental influence’) and moderate to high if h2 > 35% and h2 > 65%, respectively (i.e., ‘genetic determination’). MZ, monozygotic; DZ, dizygotic.