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Major gene and multifactorial inheritance of mandibular prognathism
Author(s) -
Cruz Ricardo Machado,
Krieger Henrique,
Ferreira Ricardo,
Mah James,
Hartsfield James,
Oliveira Silviene
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32062
Subject(s) - pedigree chart , penetrance , proband , mendelian inheritance , genetics , trait , major gene , biology , prognathism , multifactorial inheritance , heritability , mandibular prognathism , inheritance (genetic algorithm) , medicine , genotype , orthodontics , gene , single nucleotide polymorphism , mutation , osteotomy , computer science , programming language , phenotype
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.