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

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Weber, Megan L ^a   Hsin, Hong Yuan ^a   Kalay, Ersan ^b   Brožková, Dana T ^c   Shimizu, Takehiko ^d   Bayram, Merve ^e   Deeley, Kathleen ^a   Küchler, Erika C ^a   Forella, Jessalyn ^a   Ruff, Timothy D ^a   Trombetta, Vanessa M ^a   Sencak, Regina C ^a   Hummel, Michael ^a   Briseño Ruiz, Jessica ^a   Revu, Shankar K ^a   Granjeiro, José M ^f,g   Antunes, Leonardo S ^f   Antunes, Livia A ^f   Abreu, Fernanda V ^f   Costa, Marcelo C ^h   Tannure, Patricia N ^i,j   Koruyucu, Mine ^k   Patir, Asli ^e   Poletta, Fernando A ^l,m   Mereb, Juan C ⁿ   Castilla, Eduardo E ^l,m   Orioli, Iêda M ^h   Marazita, Mary L ^a   Ouyang, Hongjiao ^a,o   Jayaraman, Thottala ^a   Seymen, Figen ^k   Vieira, Alexandre R ^a   more..

^a UNIVERSITY OF PITTSBURGH   (United States)

^b KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^c CHARLES UNIVERSITY   (Czech Republic)

^d NIHON UNIVERSITY   (Japan)

^e ISTANBUL MEDIPOL UNIVERSITY   (Turkey)

^f FLUMINENSE FEDERAL UNIVERSITY   (Brazil)

^g INSTITUTO NACIONAL DE METROLOGIA   (Brazil)

^h FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

ⁱ VEIGA DE ALMEIDA UNIVERSITY   (Brazil)

^j SALGADO DE OLIVEIRA UNIVERSITY   (Brazil)

^k ISTANBUL UNIVERSITY   (Turkey)

^l CEMIC   (Argentina)

^m INSTITUTO OSWALDO CRUZ   (Brazil)

ⁿ ECLAMC at Hospital de Area   (Argentina)

^o UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

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

Indexed keywords

ESTROGEN RELATED RECEPTOR BETA; STEROID RECEPTOR; UNCLASSIFIED DRUG; ESTROGEN RECEPTOR;

ADULT; ARGENTINA; ARTICLE; CZECH REPUBLIC; DENTAL CARIES; ENAMEL; FEMALE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PERIODONTAL DISEASE; PHILIPPINES; REAL TIME POLYMERASE CHAIN REACTION; SALIVA; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC); ALLELE; CARIES PREVENTION; DECIDUOUS TOOTH; EXON; FILIPINO (PEOPLE); GENOTYPE; IMMUNOHISTOCHEMISTRY; INTRON; PROTEIN FUNCTION; SALIVA ANALYSIS; SEX DIFFERENCE; TOOTH DEVELOPMENT; WESTERN BLOTTING;

MUS;

ADOLESCENT; ADULT; ANIMALS; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; DENTAL CARIES; DENTAL ENAMEL; FEMALE; GENETIC ASSOCIATION STUDIES; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ESTROGEN; TOOTH DEMINERALIZATION; YOUNG ADULT;

EID: 84904074006     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-81     Document Type: Article

References (58)

1. World Health Organisation The World Oral Health Report 2003. 2003, http://www.who.int/oral_health/publications/report03/en/, World Health Organisation.
2. Semczuk B. Studies on the role of the state of dentition in the physiopathology of the auditory organ. IV. Studies on the effect of dentition on the etiology of acoustic trauma. Ann Univ Mariae Curie Sklodowska Med 1967, 22:173-178.
3. Dahl T. Dental findings in children with hearing disorders. Zahn Mund Kieferheilkd Zentralbl 1975, 63:24-31.
4. Mpozinakou M, Papaphragkou K, Galanopoulou E, Giamerelos G, Pantazopoulos P. Management of dental problems in the deaf child. Stomatologia (Athenai) 1977, 34:45-49.
5. Masierowska A, Fetkowska-Mielnik K. Oral hygiene and dental status in children with visual and auditory function impairment in 2 educational institutions in Lublin. Czas Stomatol 1986, 39:311-317.
6. Parlato M, Alessandrella G. Survey of dental caries incidence in a group of deaf children. Arch Stomatol (Napoli) 1990, 31:81-83.
7. Gupta DP, Chowdhury R, Sarkar S. Prevalence of dental caries in handicapped children of Calcutta. J Indian Soc Pedod Prev Dent 1993, 11:23-27.
8. Vanderley ATVO. Behavior and social factors and its relation with dental caries prevalence on institutionalized special children (with auditive and visual deficiency), in the city of Recife - PE 2001, 132. University of Pernanbuco School of Dentistry Master's thesis.
9. Al-Qahtani Z, Wyne AH. Caries experience and oral hygiene status of blind, deaf and mentally retarded female children in Riyadh, Saudi Arabia. Odontostomatol Trop 2004, 27:37-40.
10. Jain M, Mathur A, Kumar S, Dagli RJ, Duraiswamy P, Kulkarni S. Dentition status and treatment needs among children with impaired hearing attending a special school for the deaf and mute in Udaipur, India. J Oral Sci 2008, 50:161-165.
11. Wei H, Wang YL, Cong XN, Tang WQ, Wei PM. Survey and analysis of dental caries in students at a deaf-mute high school. Res Dev Disabil 2012, 33:1279-1286.
12. Nqcobo CB, Yengopal V, Rudolph MJ, Thekiso M, Joosab Z. Dental caries prevalence in children attending special needs schools in Johannesburgh, Gauteng Province, South Africa. SADJ 2012, 67:308-313.
13. Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet 2008, 82:125-138.
14. Ben Saïd M, Ayedi L, Mnejja M, Hakim B, Khalfallah A, Charfeddine I, Khifagi C, Turki K, Ayadi H, Benzina Z, Ghorbel A, Castillo ID, Masmoudi S, Aifa MH. A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. Eur J Med Genet 2011, 54:e535-e541.
15. Lee K, Khan S, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM. A novel ESRRB deletion is a rare cause of autosomal recessive nonsyndromic hearing impairment among Pakistani families. Genet Res Int 2011, 2011:368915.
16. Brožková DS, Laštůvková J, Machalová E, Lisoňová J, Trková M, Seeman P. DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family. Int J Pediatr Otorhinolaryngol 2012, 76:1681-1684.
17. Vieira AR, Marazita ML, Goldstein-McHenry T. Genome-wide scan finds suggestive caries loci. J Dent Res 2008, 87:435-439.
18. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 2001, 27:201-204.
19. Henrich VC, Phillips SL, Richter SJ, Teglas S, Morehouse R. A polymorphism in human estrogen-related receptor beta (ESRRβ) is associated with early indications of hearing loss from acoustic overload in young adult musicians 2012, Abstracts of the Annual Meeting of the American Society of Human Genetics, http://www.ashg.org/2012meeting/abstracts/fulltext/f120122450.htm.
20. Hultcrantz M, Simonoska R, Stenberg AE. Estrogen and hearing: a summary of recent investigations. Acta Otolaryngol 2006, 126:10-14.
21. Trapp T, Holsboer F. Heterodimerization between mineralocorticoid and glucocorticoid receptors increases the functional diversity of corticosteroid action. Trends Pharmacol Sci 1996, 17:145-149.
22. Patir A, Seymen F, Yildirim M, Deeley K, Cooper ME, Marazita ML, Vieira AR. Enamel formation genes are associated with high caries experience in Turkish children. Caries Res 2008, 42:394-400.
23. Shimizu T, Ho B, Deeley K, Briseño-Ruiz J, Faraco IM, Schupack BI, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Yildirim M, Poletta FA, Mereb JC, Resick JM, Brandon CA, Orioli IM, Castilla EE, Marazita ML, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Vieira AR. Enamel formation genes influence enamel microhardness before and after cariogenic challenge. PLoS One 2002, 7:45022.
24. Shimizu T, Deeley K, Briseño-Ruiz J, Faraco IM, Poletta FA, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Yildirim M, Mereb JC, Resick JM, Brandon CA, Cooper ME, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Orioli IM, Castilla EE, Marazita ML, Vieira AR. Fine-Mapping of 5q12.1-13.3 unveils new genetic contributors to caries. Caries Res 2013, 47:273-283.
25. Briseño-Ruiz J, Shimizu T, Deeley K, Dizak PM, Ruff TD, Faraco IM, Poletta FA, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Koruyucu M, Mereb JC, Resick JM, Brandon CA, Letra A, Silva RM, Cooper ME, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Orioli IM, Castilla EE, Marazita ML, Vieira AR. Role of TRAV locus in low caries experience. Hum Genet 2013, 132:1015-1025.
26. Tannure PN, Küchler EC, Lips A, Costa MC, Luiz RR, Granjeiro JM, Vieira AR. Genetic variation in MMP20 contributes to higher caries experience. J Dent 2012, 40:381-386.
27. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
28. Abecasis GR, Cookson WO. GOLD-graphical overview of linkage disequilibrium. Bioinformatics 2000, 16:182-183.
29. Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001, 9:301-306.
30. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575.
31. Berlin JA, Laird NM, Sacks HS, Chalmers TC. A comparison of statistical methods for combining event rates from clinical trials. Stat Med 1989, 8:141-151.
32. Küchler EC, Deeley K, Ho B, Linkowski S, Meyer C, Noel J, Kouzbari MZ, Bezamat M, Granjeiro JM, Antunes LS, Abreu FV, Costa MC, Tannure PN, Seymen F, Koruyucu M, Patir A, Mereb JC, Poletta FA, Castilla EE, Orioli IM, Marazita ML, Vieira AR. Genetic mapping of high caries experience on human chromosome 13. BMC Med Genet 2013, 14:116.
33. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 2001, 25:402-408.
34. Mitsunaga K, Araki K, Mizusaki H, Morohashi K, Haruna K, Nakagata N, Giguère V, Yamamura K, Abe K. Loss of PGC-specific expression of the orphan nuclear receptor ERR-beta results in reduction of germ cell number in mouse embryos. Mech Dev 2004, 121:237-246.
35. Chen J, Nathans J. Estrogen-related receptor beta/NR3B2 controls epithelial cell fate and endolymph production by the stria vascularis. Dev Cell 2007, 13:325-337.
36. National Research Council A Survey of the Literature of Dental Caries 1952, 567. Washington D.C.: National Academy of Sciences, National Research Council.
37. Koch G, Martinsson T. Socio-odontologic investigation of school children with high and low caries frequency. I. Socioeconomic background. Odontol Revy 1970, 21:207-228.
38. Varenne B, Petersen PE, Ouattara S. Oral health status of children and adults in urban and rural areas of Burkina Faso, Africa. Int Dent J 2004, 54:83-89.
39. Madléna M, Hermann P, Jáhn M, Fejérdy P. Caries prevalence and tooth loss in Hungarian adult population: results of a national survey. BMC Public Health 2008, 8:364.
40. Demirci M, Tuncer S, Yuceokur AA. Prevalence of caries on individual tooth surfaces and its distribution by age and gender in university clinic patients. Eur J Dent 2010, 4:270-279.
41. Costa SM, Vasconcelos M, Haddad JP, Abreu MH. The severity of dental caries in adults aged 35 to 44 years residing in the metropolitan area of a large city in Brazil: a cross-sectional study. BMC Oral Health 2012, 12:25.
42. Maru AM, Narendran S. Epidemiology of dental caries among adults in a rural area in India. J Contemp Dent Pract 2012, 2012(13):382-388.
43. Lukacs JR, Largaespada LL. Explaining sex differences in dental caries prevalence: saliva, hormones, and " life-history" etiologies. Am J Hum Biol 2006, 18:540-555.
44. Potgieter M, Morse EH, Relenbach FM, Dall R. The food habits and dental status of some Connecticut children. J Dent Res 1956, 35:638-644.
45. Zita AC, McDonald RE, Andrews AL. Dietary habits and dental caries experience in 200 children. J Dent Res 1959, 38:860-865.
46. Clancy KL, Bibby BG, Goldberg HJ, Ripa LW, Barenie J. Snack foods and caries in adolescence. J Dent Res 1977, 56:568-573.
47. Martinez-Mier EA, Zandona AF. The impact of gender on caries prevalence and risk assessment. Dent Clin North Am 2013, 57:301-315.
48. Linssen AM, van Boxtel MP, Joore MA, Anteunis LJ. Predictors of hearing acuity: Cross-sectional and longitudinal analysis. J Gerontol A Biol Sci Med Sci 2013, [Epub ahead of print].
49. Gurbuz MK, Catli T, Cingi C, Yaz A, Bal C. Occupational safety threats among dental personnel and related risk factors. J Craniofac Surg 2013, 24:e599-e602.
50. Eftychi C, Howson JM, Barratt BJ, Vella A, Payne F, Smyth DJ, Twells RC, Walker NM, Rance HE, Tuomilehto-Wolf E, Tuomilehto J, Undlien DE, Rønningen KS, Guja C, Ionescu-Tîirgovişte C, Savage DA, Todd JA. Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes. Diabetes 2004, 53:870-873.
51. Ikegami H, Fujisawa T, Ogihara T. Mouse models of type 1 and type 2 diabetes derived from the same closed colony: genetic susceptibility shared between two types of diabetes. ILAR J 2004, 45:268-277.
52. Shaffer JR, Wang X, Feingold E, Lee M, Begum F, Weeks DE, Cuenco KT, Barmada MM, Wendell SK, Crosslin DR, Laurie CC, Doheny KF, Pugh EW, Zhang Q, Feenstra B, Geller F, Boyd HA, Zhang H, Melbye M, Murray JC, Weyant RJ, Crout R, McNeil DW, Levy SM, Slayton RL, Willing MC, Broffitt B, Vieira AR, Marazita ML. Genome-wide association scan for childhood caries implicates novel genes. J Dent Res 2011, 90:1457-1462.
53. Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB, Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE, Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E, Marazita ML. Genome-wide association scan of dental caries in the permanent dentition. BMC Oral Health 2012, 12:57.
54. Shaffer JR, Feingold E, Wang X, Lee M, Cuenco KT, Weeks DE, Weyant RJ, Crout R, McNeil DW, Marazita ML. GWAS of dental caries patterns in the permanent dentition. J Dent Res 2013, 92:38-44.
55. Zeng Z, Shaffer JR, Wang X, Feingold E, Weeks DE, Lee M, Cuenco KT, Wendell SK, Weyant RJ, Crout R, McNeil DW, Marazita ML. Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. J Dent Res 2013, 92:432-437.
56. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000, 132:365-386.
57. Dausset J. Le centre d'etude du polymorphisme humain. Presse Med 1986, 13:1801.
58. Jindal A, McMeans M, Narayanan S, Rose EK, Jain S, Marazita ML, Menezes R, Letra A, Carvalho FM, Brandon CA, Resick JM, Mereb JC, Poletta FA, Lopez-Camelo JS, Castilla EE, Orioli IM, Vieira AR. Women are more susceptible to caries but individuals born with clefts are not. Int J Dent 2011, 2011:454532.