title: The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism.
abstract: Mandibular prognathism is a facial skeletal malocclusion. Until now, the genetic mechanism has been unclear. The goal of this study was to identify candidate genes or genomic regions directly associated with mandibular prognathism development, by employing whole genome sequencing. A large Chinese family was recruited, composed of 9 affected and 12 unaffected individuals, and the inheritance pattern of this family tends to be autosomal dominant. A single-nucleotide missense mutation in the ADAMTS1 gene (c. 742I>T) was found to segregate in the family, given that the affected individuals must be heterozygous for the mutation. For mutation validation, we screened this candidate mutation and 15 tag single-nucleotide polymorphisms in the coding sequence of ADAMTS1 among 230 unrelated cases and 196 unrelated controls using Sequenom Massarray and found that 3 in 230 cases carried this mutation and none of the controls did. Final results suggested that 2 single-nucleotide polymorphisms (rs2738, rs229038) of ADAMTS1 were significantly associated with mandibular prognathism.
authors.affiliation: Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China.
authors.forename: X
authors.initials: X
authors.lastname: Guan
authors.affiliation: Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China.
authors.forename: Y
authors.initials: Y
authors.lastname: Song
authors.affiliation: Department of Laboratory of Statistical Genetics, Institute of Psychology, Chinese Academy of Sciences, Beijing, P.R. China, and Rockefeller University, New York, NY, USA.
authors.forename: J
authors.initials: J
authors.lastname: Ott
authors.affiliation: Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China.
authors.forename: C
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China.
authors.forename: T
authors.initials: T
authors.lastname: Xin
authors.affiliation: Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology. Beijing, P.R. China.
authors.forename: Z
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Laboratory of Molecular Biology and Center for TMD and Orofacial Pain, Peking University School and Hospital of Stomatology. Beijing, P.R. China.
authors.forename: Y
authors.initials: Y
authors.lastname: Gan
authors.affiliation: Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China.
authors.forename: S
authors.initials: S
authors.lastname: Zhou
authors.affiliation: Department of Orthodontics, Center for Craniofacial Stem Cell Research, Regeneration, and Translational Medicine, Peking University School and Hospital of Stomatology, Beijing, P.R. China yanhengzhou@vip.163.com.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071097:ADAMTS1 Protein; D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011378:Prognathism / Q000235:genetics*; D055815:Young Adult
chemical_list: D051722:ADAM Proteins; D000071097:ADAMTS1 Protein; C103859:ADAMTS1 protein, human
keywords: SNV; bioinformatics; craniofacial biology/genetics; molecular genetics; orthodontic(s); whole genome analysis