title: Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis.
abstract: Aggressive periodontitis is a multifactorial disease with strong familial aggregation. Genetic linkage analysis is a method to localize causative or predisposing genes along the chromosome, thus helping to unravel important pathogenic pathways. Prior to applying this method, however, it is essential to estimate the power of the study design. The aim of this study was to estimate the power of a large Brazilian family with generalized aggressive periodontitis (GAgP) for future linkage analysis. A three-generation family was seen at the Dental School of the Federal University of Bahia. A full-mouth periodontal probing at 6 sites/tooth was performed in all 23 family members. Five out of 10 siblings were affected with GAgP. A parametric simulation (theta = 0) was performed on 100 replicates using the statistical software SLINK for linkage analysis. The linkage LOD score criteria for complex diseases described by Haines was adopted. There was maximum expected LOD scores of 3.56 and 3.48 at penetrance rate F = 0.98, and both studied phenocopy rates p=0.0 and p=0.02, respectively. The analyzed family showed statistical power for future genetic linkage analysis of candidate genes to GAgP.
authors.affiliation: Federal University of Bahia, Salvador, BA, Brazil. giselarapp@uol.com.br
authors.forename: Gisela Estela
authors.initials: GE
authors.lastname: Rapp
authors.forename: Nicolas
authors.initials: N
authors.lastname: Pineda-Trujillo
authors.forename: Andrew
authors.initials: A
authors.lastname: McQuillin
authors.forename: Maurizio
authors.initials: M
authors.lastname: Tonetti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D010520:Aggressive Periodontitis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D018579:Patient Selection; D019683:Penetrance; D055815:Young Adult