Major gene and multifactorial inheritance of mandibular prognathism

Mandibular prognathism typically shows familial aggregation. Various genetic models have been described and it is assumed to be a multifactorial and polygenic trait, with a threshold for expression. Our goal was to examine specific genetic models of the familial transmission of this trait. The study...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-01, Vol.146A (1), p.71-77
Main Authors: Cruz, Ricardo Machado, Krieger, Henrique, Ferreira, Ricardo, Mah, James, Hartsfield Jr, James, Oliveira, Silviene
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Cephalometry
Child
Chromosome Segregation
Chromosomes, Human
Dental Models
Female
Genes, Dominant
Humans
Incidence
major gene
Male
Malocclusion - genetics
mandibular prognathism
Medical genetics
Medical sciences
Middle Aged
Models, Genetic
multifactorial
Multifactorial Inheritance
Pedigree
Penetrance
Prevalence
Prognathism - epidemiology
Prognathism - genetics
Quantitative Trait, Heritable
segregation analysis
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Summary:Mandibular prognathism typically shows familial aggregation. Various genetic models have been described and it is assumed to be a multifactorial and polygenic trait, with a threshold for expression. Our goal was to examine specific genetic models of the familial transmission of this trait. The study sample comprised of 2,562 individuals from 55 families. Complete family histories for each proband were ascertained and the affection status of relatives were confirmed by lateral cephalograms, photographs, and dental models. Pedigrees were drawn using PELICAN and complex segregation analysis was performed using POINTER. Parts of some pedigrees were excluded to create one founder pedigrees, so the total N was 2,050. Analysis showed more affected females than males (P = 0.030). The majority of the pedigrees suggest autosomal dominant inheritance. Incomplete penetrance was demonstrated by the ratio of affected/unaffected parents and siblings. The heritability of mandibular prognathism was estimated to be 0.316. We conclude that there is a major gene that influences the expression of mandibular prognathism with clear signs of Mendelian inheritance and a multifactorial component. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32062