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Open Access Research article

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

Megan L Weber1, Hong-Yuan Hsin1, Ersan Kalay2, Dana Š Brožková3, Takehiko Shimizu4, Merve Bayram5, Kathleen Deeley1, Erika C Küchler1, Jessalyn Forella1, Timothy D Ruff1, Vanessa M Trombetta1, Regina C Sencak1, Michael Hummel1, Jessica Briseño-Ruiz1, Shankar K Revu1, José M Granjeiro678, Leonardo S Antunes8, Livia A Antunes8, Fernanda V Abreu8, Marcelo C Costa9, Patricia N Tannure1011, Mine Koruyucu12, Asli Patir5, Fernando A Poletta1314, Juan C Mereb15, Eduardo E Castilla1314, Iêda M Orioli16, Mary L Marazita1, Hongjiao Ouyang11718, Thottala Jayaraman1, Figen Seymen12 and Alexandre R Vieira1*

Author Affiliations

1 Department of Oral Biology, 614 Salk Hall, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, 15261 Pittsburgh, PA, USA

2 Department of Medical Biology, School of Medicine, Karadeniz Technical University, Trabzon, Turkey

3 DNA Laboratory of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic

4 Department of Pediatric Dentistry, Nihon University School of Dentistry, Matsudo, Chiba, Japan

5 Department of Pedodontics, Medipol Istanbul University, Istanbul, Turkey

6 Clinical Research Unit, Fluminense Federal University, Niterói, RJ, Brazil

7 National Institute of Metrology, Quality and Technology (INMETRO), Duque de Caxias, RJ, Brazil

8 Department of Specific Formation, School of Dentistry, Fluminense Federal University, Nova Friburgo, RJ, Brazil

9 Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil

10 Veiga de Almeida University, Rio de Janeiro, RJ, Brazil

11 Discipline of Cariology, School of Dentistry, Salgado de Oliveira University, Niterói, RJ, Brazil

12 Department of Pedodontics, Istanbul University, Istanbul, Turkey

13 ECLAMC (Latin American Collaborative Study of Congenital Malformations) at CEMIC (Center for Medical Education and Clinical Research), Buenos Aires, Argentina

14 ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) at Department of Genetics, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil

15 ECLAMC at Hospital de Area, El Bolson, RN, Argentina

16 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

17 Department of Comprehensive Care, Restorative Dentistry and Endodontics, School of Dental Medicine, the University of Pittsburgh, Pittsburgh, PA, USA

18 Department of Microbiology and Molecular Genetics, School of Medicine, The University of Pittsburgh, Pittsburgh, PA, USA

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BMC Medical Genetics 2014, 15:81  doi:10.1186/1471-2350-15-81

Published: 15 July 2014

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.

Keywords:
Dental caries; Deafness; Dental development; Ear development; Linkage disequilibrium; Genetics; Polymorphisms