title: Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.
abstract: BACKGROUND
  Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans.
  
  
  METHODS
  We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice.
  
  
  RESULTS
  Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience.
  
  
  CONCLUSIONS
  The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.
authors.forename: Megan L
authors.initials: ML
authors.lastname: Weber
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Hsin
authors.forename: Ersan
authors.initials: E
authors.lastname: Kalay
authors.forename: Dana S
authors.initials: DS
authors.lastname: BroŽková
authors.forename: Takehiko
authors.initials: T
authors.lastname: Shimizu
authors.forename: Merve
authors.initials: M
authors.lastname: Bayram
authors.forename: Kathleen
authors.initials: K
authors.lastname: Deeley
authors.forename: Erika C
authors.initials: EC
authors.lastname: Küchler
authors.forename: Jessalyn
authors.initials: J
authors.lastname: Forella
authors.forename: Timothy D
authors.initials: TD
authors.lastname: Ruff
authors.forename: Vanessa M
authors.initials: VM
authors.lastname: Trombetta
authors.forename: Regina C
authors.initials: RC
authors.lastname: Sencak
authors.forename: Michael
authors.initials: M
authors.lastname: Hummel
authors.forename: Jessica
authors.initials: J
authors.lastname: Briseño-Ruiz
authors.forename: Shankar K
authors.initials: SK
authors.lastname: Revu
authors.forename: José M
authors.initials: JM
authors.lastname: Granjeiro
authors.forename: Leonardo S
authors.initials: LS
authors.lastname: Antunes
authors.forename: Livia A
authors.initials: LA
authors.lastname: Antunes
authors.forename: Fernanda V
authors.initials: FV
authors.lastname: Abreu
authors.forename: Marcelo C
authors.initials: MC
authors.lastname: Costa
authors.forename: Patricia N
authors.initials: PN
authors.lastname: Tannure
authors.forename: Mine
authors.initials: M
authors.lastname: Koruyucu
authors.forename: Asli
authors.initials: A
authors.lastname: Patir
authors.forename: Fernando A
authors.initials: FA
authors.lastname: Poletta
authors.forename: Juan C
authors.initials: JC
authors.lastname: Mereb
authors.forename: Eduardo E
authors.initials: EE
authors.lastname: Castilla
authors.forename: Iêda M
authors.initials: IM
authors.lastname: Orioli
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
authors.forename: Hongjiao
authors.initials: H
authors.lastname: Ouyang
authors.forename: Thottala
authors.initials: T
authors.lastname: Jayaraman
authors.forename: Figen
authors.initials: F
authors.lastname: Seymen
authors.affiliation: Department of Oral Biology, 614 Salk Hall, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, 15261 Pittsburgh, PA, USA. arv11@pitt.edu.
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D045744:Cell Line, Tumor; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D003731:Dental Caries / Q000235:genetics*; D003743:Dental Enamel / Q000254:growth & development; D005260:Female; D056726:Genetic Association Studies; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology*; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D051379:Mice; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000235:genetics* / Q000502:physiology; D017001:Tooth Demineralization / Q000235:genetics*; D055815:Young Adult
chemical_list: C490918:ESRRB protein, human; D011960:Receptors, Estrogen