IADR Abstract Archives
Genetic Variants of American-European Families With Class-III Phenotype: an Update
Objectives: Considering that family-based studies are still one of the most effective tools to explore genetic regions and identify candidate genes phenotype-related to complex diseases, this research aims to report the latest findings of genetic linkage analysis associated to the skeletal Class III malocclusion (sCIIIm) phenotype in European and American populations.
Methods: A systematic literature search was conducted following the PECO question ‘what are the genetic variants linked in families with one or more members exhibiting sCIIIm phenotype?’. Participants: affected family members of European or American ethnic origin, with absence of syndromic conditions or dentofacial trauma. Exposure: sCIIIm phenotype clinically o radiographically diagnosed. Control: unaffected family members. Outcome: [Primary]: identification of candidate genetic variants, mutations or loci linked to the sCIIIm phenotype; [secondary]: description of distribution according to ethnic origin, inheritance patterns and sex linkage.
Results: After running the search string, duplicates removal, and screening by title and abstract a total of four articles met the criteria. Colombian, Brazilian, Estonian, and Italian multigenerational families were studied. 12q23, 12q22-q23, 10p12.1 loci were reported as carriers of candidate markers of interest: IGF1, HOXC, COL2A1, DUSP6 (c.545C>T; p.Ser182Phe), and ARHGAP21 (Gly1121Ser). Only two articles found variants of interest on the same locus (12q23), and both described a wide characterization of the sCIIIm including mandibular, maxillary or mixed origin phenotypes. All the articles reported an autosomal dominant inheritance pattern with incomplete penetrance, and no differences between sex.
Conclusions: Family-based studies on sCIIIm phenotype, disclose locus 12q23 as carrier of variants of interest shared by Estonian and Colombian families; these genotype variants respond to a wide phenotype characterization of sCIIIm; an autosomal dominant inheritance mode and no sex linkage is exhibited.
Methods: A systematic literature search was conducted following the PECO question ‘what are the genetic variants linked in families with one or more members exhibiting sCIIIm phenotype?’. Participants: affected family members of European or American ethnic origin, with absence of syndromic conditions or dentofacial trauma. Exposure: sCIIIm phenotype clinically o radiographically diagnosed. Control: unaffected family members. Outcome: [Primary]: identification of candidate genetic variants, mutations or loci linked to the sCIIIm phenotype; [secondary]: description of distribution according to ethnic origin, inheritance patterns and sex linkage.
Results: After running the search string, duplicates removal, and screening by title and abstract a total of four articles met the criteria. Colombian, Brazilian, Estonian, and Italian multigenerational families were studied. 12q23, 12q22-q23, 10p12.1 loci were reported as carriers of candidate markers of interest: IGF1, HOXC, COL2A1, DUSP6 (c.545C>T; p.Ser182Phe), and ARHGAP21 (Gly1121Ser). Only two articles found variants of interest on the same locus (12q23), and both described a wide characterization of the sCIIIm including mandibular, maxillary or mixed origin phenotypes. All the articles reported an autosomal dominant inheritance pattern with incomplete penetrance, and no differences between sex.
Conclusions: Family-based studies on sCIIIm phenotype, disclose locus 12q23 as carrier of variants of interest shared by Estonian and Colombian families; these genotype variants respond to a wide phenotype characterization of sCIIIm; an autosomal dominant inheritance mode and no sex linkage is exhibited.