Table 2.
Literature review of craniofacial heritability – family studies.
| Study sample | Measures and techniques | Effect | Reference |
|---|---|---|---|
| Siblings | |||
|
NUMBER 138 siblings SEX DISTRIBUTION 68 males, 70 females AGE DISTRIBUTION Mean 23 years ETHNIC BACKGROUND Turkey |
CAPTURING TECHNIQUE 2D lateral cephalograms STATISTICAL ANALYSIS Model-fitting FACIAL PHENOTYPE 12 measures (soft-tissue, ratio) |
RANGE 30–109% GENETIC DETERMINATION Total depth index Soft-tissue chin thickness Merrifield angle Holdaway angle Soft-tissue facial angle Upper to lower facial height NOTES h2: depth > vertical measures |
Baydaş et al., 2007 |
| Parent-offspring | |||
|
NUMBER 363 6-year-olds 182 16-year-olds SEX DISTRIBUTION 6y: 184 males, 179 females 16y: 97 males, 85 females ETHNIC BACKGROUND Iceland |
CAPTURING TECHNIQUE 2D lateral cephalograms STATISTICAL ANALYSIS Regression analysis FACIAL PHENOTYPE 22 landmarks 33 measures (linear, angular, ratio) |
RANGE F–S: (6y) -28–62%; (16y) -47–98% M–S: (6y) -33–65%; (16y) -26–107% F–D: (6y) -54–77%; (16y) -33–87% M–D: (6y) -47–83%; (16y) -63–104% GENETIC DETERMINATION Position of the lower jaw Anterior and posterior facial height Cranial base dimensions Nasal bone length and prominence ENVIRONMENTAL INFLUENCE Dental variables NOTES h2: daughters > sons h2: 16-year-olds > 6-year-olds |
Johannsdottir et al., 2005 |
|
NUMBER 24 families AGE DISTRIBUTION children: 17-35 years parents: 35-65 years ETHNIC BACKGROUND Saudi Arabia |
CAPTURING TECHNIQUE 2D lateral cephalograms STATISTICAL ANALYSIS regression analysis FACIAL PHENOTYPE 15 landmarks 28 measures (linear, angular, ratio) |
RANGE F–S: 1–147% M–S: 2–85% F–D: 11–118% M–D: 1–113% GENETIC DETERMINATION mandibular variables (°) facial height dimensions mandibular body length NOTES h2: daughters > sons h2: father-offspring > mother-offspring h2: linear > angular measures h2: mandibular > maxillary variables |
AlKhudhairi and AlKofide, 2010 |
|
NUMBER 140 individuals from 35 families AGE DISTRIBUTION geq 16 years ETHNIC BACKGROUND India |
CAPTURING TECHNIQUE 2D digital photographs STATISTICAL ANALYSIS Correlation analysis (no h2-values) FACIAL PHENOTYPE 27 measures (linear, ratio) |
GENETIC DETERMINATION
Mandibular position Chin prominence Nasal prominence & width Lip length at philtrum Total facial height Lip prominence ENVIRONMENTAL INFLUENCE Nose and lip form NOTES h2: daughters > sons |
Lahoti et al., 2013 |
|
NUMBER 762 father-offspring pairs SEX DISTRIBUTION 358 males, 404 females AGE DISTRIBUTION Children: 15.5 years Fathers: 40–75 years |
CAPTURING TECHNIQUE 3D facial scans STATISTICAL ANALYSIS Multivariate regression analysis FACIAL PHENOTYPE 7,160 landmarks 63 facial segments |
RANGE Sons: 34–82% Daughters: 32–72% GENETIC DETERMINATION Global face Upper facial part Nose |
Current study |
|
ETHNIC BACKGROUND United Kingdom (ALSPAC) |
Orbital region ENVIRONMENTAL INFLUENCE Cheeks |
||
| Small segments around philtrum NOTES h2: sons > daughters |
|||
| Nuclear and extended families | |||
|
NUMBER 1,918 individuals from 342 families SEX DISTRIBUTION Children: 598 males, 464 females Parents: 390 males, 466 females AGE DISTRIBUTION 6–72 years Mean 21.5 years ETHNIC BACKGROUND India |
CAPTURING TECHNIQUE Direct anthropometric measurements STATISTICAL ANALYSIS Model-fitting FACIAL PHENOTYPE 23 measures (linear, craniofacial, soft-tissue) |
RANGE 25–61% GENETIC DETERMINATION Bizygomatic breadth Nasal breadth and height Head breadth and length Facial height NOTES h2: craniofacial > linear measures h2: breadth measures = circumference |
Arya et al., 2002 |
|
NUMBER 1,406 individuals from 357 families SEX DISTRIBUTION 733 males, 673 females AGE DISTRIBUTION 17–90 years ETHNIC BACKGROUND Russia |
CAPTURING TECHNIQUE Direct anthropometric measurements STATISTICAL ANALYSIS Classical correlation analysis model-fitting FACIAL PHENOTYPE 10 measures, 2 latent factors (f) |
RANGE 52–72% GENETIC DETERMINATION Horizontal component (f) Bizygomatic breadth Minimum frontal breadth Head breadth and length Vertical component (f) Nasal height nasion NOTES h2: horizontal > vertical measures |
Ermakov et al., 2005 |
|
NUMBER 298 subjects from 54 families SEX DISTRIBUTION 127 males, 171 females |
CAPTURING TECHNIQUE 3D models of the skull STATISTICAL ANALYSIS Model-fitting |
RANGE 0–86.7% GENETIC DETERMINATION External alveolar breadth |
Carson, 2006 |
|
AGE DISTRIBUTION Adults ETHNIC BACKGROUND Austria, Hallstatt population |
CAPTURING TECHNIQUE 3D models of the skull STATISTICAL ANALYSIS Model-fitting FACIAL PHENOTYPE 58 landmarks 33 measures (linear) |
Nasal height Bimaxillary breadth Nasion-prosthion height ENVIRONMENTAL INFLUENCE Bifrontal breadth Nasal breadth Biorbital breadth NOTES h2: vertical > horizontal measures h2: neurocranial > facial measures |
|
|
NUMBER 1,263 individuals from 373 families SEX DISTRIBUTION 686 males, 577 females AGE DISTRIBUTION 18–81 years ETHNIC BACKGROUND India |
CAPTURING TECHNIQUE Direct anthropometric measurements STATISTICAL ANALYSIS Classical correlation analysis Model-fitting FACIAL PHENOTYPE 11 measures, 2 latent factors (f) |
RANGE 41–83% GENETIC DETERMINATION Nasal height nasion Vertical head factor (f) Horizontal head factor (f) Bizygomatic breadth Minimum frontal breadth Physiognomic super facial height NOTES h2: horizontal = vertical measures |
Karmakar et al., 2007 |
|
NUMBER 474 individuals from 119 families SEX DISTRIBUTION 238 males, 236 females |
CAPTURING TECHNIQUE Direct anthropometric measurements STATISTICAL ANALYSIS Classical correlation analysis Model-fitting |
RANGE 52–80% GENETIC DETERMINATION Head breadth Bizygomatic breadth |
Jelenkovic et al., 2008 |
|
AGE DISTRIBUTION 17–72 years ETHNIC BACKGROUND Belgium |
FACIAL PHENOTYPE 14 measures, 4 latent factors (f) |
Horizontal head factor 1 (f) Horizontal facial factor (f) External biocular breadth Horizontal head factor 2 (f) Nose breadth |
|
|
NOTES h2: horizontal > vertical measures h2: facial > head phenotypic measures |
|||
|
NUMBER 607 individuals from 90 families SEX DISTRIBUTION 328 males, 279 females AGE DISTRIBUTION 13–75.5 years (observation closest to the participant’s 18th birthday was chosen for analysis) ETHNIC BACKGROUND Ohio (Fels Longitudinal Study) European ancestry |
CAPTURING TECHNIQUE 2D lateral cephalograms STATISTICAL ANALYSIS Model-fitting FACIAL PHENOTYPE 10 landmarks 10 measures (linear, angular) |
RANGE 34–71% GENETIC DETERMINATION Anterior basicranial length (S-N) Sella-vertex (ectocranial) Basocranial flexion (Ba-S-N°) Sella-sphenoethmoidale Facial positioning (S-N-A°) Total basicranial length (Ba-N) ENVIRONMENTAL INFLUENCE Posterior base (Ba-S) |
Sherwood et al., 2008 |
|
NUMBER 355 subjects SEX DISTRIBUTION 211 males, 144 females AGE DISTRIBUTION Adults ETHNIC BACKGROUND Austria, Hallstatt population |
CAPTURING TECHNIQUE 3D models of the skull STATISTICAL ANALYSIS Model-fitting FACIAL PHENOTYPE 65 landmarks 58 measures (linear) |
RANGE 0–43% GENETIC DETERMINATION Nasal height and length Orbital breadth (frontomalare orbitale) Zygomatic height Orbital length ENVIRONMENTAL INFLUENCE Nasal breadth Zygomatic breadth NOTES h2: basicranial = neurocranial = facial |
Martínez-Abadías et al., 2009 |
|
NUMBER 509 individuals from 122 families SEX DISTRIBUTION 251 males, 258 females AGE DISTRIBUTION 13–72 years ETHNIC BACKGROUND Belgium |
CAPTURING TECHNIQUE Direct anthropometric measurements STATISTICAL ANALYSIS Model-fitting FACIAL PHENOTYPE 18 craniofacial measures (skeletal, soft-tissue) |
RANGE 46–72% GENETIC DETERMINATION External biocular breadth Lips height Head breadth Minimum frontal breadth Bigonial breadth Physiognomic facial height Bizygomatic breadth |
Jelenkovic et al., 2010 |
|
NOTES h2: skeletal > soft-tissue measures |
|||
|
NUMBER 229 individuals from 38 families SEX DISTRIBUTION 94 males, 135 females AGE DISTRIBUTION Children: mean 36.0 years Parents: mean 55.2 years ETHNIC BACKGROUND Korea |
CAPTURING TECHNIQUE 2D digital photographs STATISTICAL ANALYSIS Model-fitting FACIAL PHENOTYPE 25 landmarks 14 measures, 3 latent factors (f) |
RANGE 25–61% GENETIC DETERMINATION Intercanthal width Lower face portion (f) Nose width Orbital region (f) Vertical length (f) ENVIRONMENTAL INFLUENCE Mouth width Lower facial height |
Kim et al., 2013 |
|
NUMBER 1,379 individuals from 127 families SEX DISTRIBUTION 655 males, 724 females |
CAPTURING TECHNIQUE 2D lateral cephalograms STATISTICAL ANALYSIS Model-fitting |
RANGE 10–60% GENETIC DETERMINATION Nasion-sella-basion (°) Pogonion to nasion-basion |
Šešelj et al., 2015 |
|
AGE DISTRIBUTION 8–95 years (observation closest to the participant’s 18th birthday was chosen for analysis) ETHNIC BACKGROUND Ohio (Fels Longitudinal Study) European ancestry |
FACIAL PHENOTYPE 48 landmarks 75 measures (linear, angular) |
Gonial angle Lower facial height Sella to nasion ENVIRONMENTAL INFLUENCE Molar relation Palatal plane Ramus position Lip protrusion NOTES h2: neurocranial > basicranial and facial measures |
|
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’). F, father; M, mother; S, son; D, daughter.