title: Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis.
abstract: Chronic periodontitis is an oral disorder characterized with gingival inflammation and bone destruction. As the sixth-most prevalent condition affecting more than 743 million people around the world, it is classified as one of the seven destructive oral disorders. Early genetic epidemiological evidence indicated a major role for genetics in periodontal disease development. In this study, we conducted a two-stage comprehensive evaluation of the genetic susceptibility of FBXO38, AP3B2 and WHAMM with the diagnosis of severe chronic periodontitis. A total of 5,065 study subjects from the Han Chinese population consisting of 1,264 cases and 3,801 healthy controls were recruited, and 65 single nucleotide markers related to the three candidate genes were genotyped to investigate the susceptibility of patients with these polymorphisms to severe chronic periodontitis. To increase the coverage of genetic markers, we implemented imputation techniques to extend the number of tested makers to 416. Single marker and haplotype-based analyses were performed, and significant results were obtained for FBXO38 (rs10043775, P = 0.0009) and AP3B2 (rs11631963-rs11637433, CA, P = 9.98 × 10(-5); rs1864699-rs2099259-rs2278355, ATC, P = 3.84 × 10(-8)). Our findings provide direct evidence for the association of FBXO38 and AP3B2 with severe chronic periodontitis in the Han Chinese population.
authors.affiliation: Department of Stomatology, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.|Department of Respiratory, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Shang
authors.affiliation: Department of Computer Science, Shandong Medical College, Jinan, China.
authors.forename: Li
authors.initials: L
authors.lastname: Dong
authors.affiliation: Department of Stomatology, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.|Department of Pediatric Stomatology, Jinan Stomatological Hospital, Jinan, China.
authors.forename: Lingfang
authors.initials: L
authors.lastname: Zeng
authors.affiliation: Tian-rui Institute of Stomatology, Xi'an, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Yang
authors.affiliation: Department of Emergency, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Cardiology, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Stomatology, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Ran
authors.initials: R
authors.lastname: Xu
authors.affiliation: Department of Stomatology, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Tao
authors.affiliation: Department of Stomatology, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Zhang
mesh_terms: D033963:Adaptor Protein Complex 3 / Q000235:genetics*; D033966:Adaptor Protein Complex beta Subunits / Q000235:genetics*; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002884:Chromosomes, Human, Pair 15; D002895:Chromosomes, Human, Pair 5; D055113:Chronic Periodontitis / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011159:Population Surveillance; D012720:Severity of Illness Index
chemical_list: C095597:AP3B2 protein, human; D033963:Adaptor Protein Complex 3; D033966:Adaptor Protein Complex beta Subunits; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; C578123:WHAMM protein, human