Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

BMC Medical Genetics

Alexandre R Vieira⁶  Figen Seymen^1,13  Thottala Jayaraman⁶  Hongjiao Ouyang³  Mary L Marazita⁶  Iêda M Orioli¹  Eduardo E Castilla⁷  Juan C Mereb^1,11  Fernando A Poletta⁷  Asli Patir^1,12  Mine Koruyucu^1,13  Patricia N Tannure⁸  Marcelo C Costa²  Fernanda V Abreu⁵  Livia A Antunes⁵  Leonardo S Antunes⁵  José M Granjeiro⁵  Shankar K Revu⁶  Jessica Briseño-Ruiz⁶  Michael Hummel⁶  Regina C Sencak⁶  Vanessa M Trombetta⁶  Timothy D Ruff⁶  Jessalyn Forella⁶  Erika C Küchler⁶  Kathleen Deeley⁶  Merve Bayram^1,12  Takehiko Shimizu⁹  Dana Š Brožková^1,10  Ersan Kalay⁴  Hong-Yuan Hsin⁶  Megan L Weber⁶ 

[1] ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) at Department of Genetics, Institute of Biology, Center of Health Sciences, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil;Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil;Department of Microbiology and Molecular Genetics, School of Medicine, The University of Pittsburgh, Pittsburgh, PA, USA;Department of Medical Biology, School of Medicine, Karadeniz Technical University, Trabzon, Turkey;Department of Specific Formation, School of Dentistry, Fluminense Federal University, Nova Friburgo, RJ, Brazil;Department of Oral Biology, 614 Salk Hall, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, 15261 Pittsburgh, PA, USA;ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) at Department of Genetics, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil;Discipline of Cariology, School of Dentistry, Salgado de Oliveira University, Niterói, RJ, Brazil;Department of Pediatric Dentistry, Nihon University School of Dentistry, Matsudo, Chiba, Japan;DNA Laboratory of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic;ECLAMC at Hospital de Area, El Bolson, RN, Argentina;Department of Pedodontics, Medipol Istanbul University, Istanbul, Turkey;Department of Pedodontics, Istanbul University, Istanbul, Turkey

关键词: Polymorphisms;    Genetics;    Linkage disequilibrium;    Ear development;    Dental development;    Deafness;    Dental caries;   

Others  :  1091250
DOI  :  10.1186/1471-2350-15-81

 received in 2014-04-03, accepted in 2014-07-07,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Weber et al.; licensee BioMed Central Ltd.

【 图 表 】

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