How to cite this article: Cruz RM, Krieger H, Ferreira R, Mah J, Hartsfield J Jr, Oliveira S. 2007. Major gene and multifactorial inheritance of mandibular prognathism. Am J Med Genet Part A 146A:71–77.
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Research Article
Major gene and multifactorial inheritance of mandibular prognathism†
Article first published online: 11 DEC 2007
DOI: 10.1002/ajmg.a.32062
Copyright © 2007 Wiley-Liss, Inc.
Additional Information
How to Cite
Cruz, R. M., Krieger, H., Ferreira, R., Mah, J., Hartsfield, J. and Oliveira, S. (2008), Major gene and multifactorial inheritance of mandibular prognathism. Am. J. Med. Genet., 146A: 71–77. doi: 10.1002/ajmg.a.32062
- †
Publication History
- Issue published online: 19 DEC 2007
- Article first published online: 11 DEC 2007
- Manuscript Accepted: 5 AUG 2007
- Manuscript Received: 16 DEC 2006
- Abstract
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Keywords:
- mandibular prognathism;
- segregation analysis;
- major gene;
- multifactorial
Abstract
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.