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

Weber, Megan; Hsin, Hong Yuan; Kalay, Ersan; Brožková, Dana T.; Shimizu, Takehiko; Bayram, Merve; Deeley, Kathleen; Küchler, Érika Calvano; Forella, Jessalyn; Ruff, Timothy D.; Trombetta, Vanessa M.; Sencak, Regina C.; Hummel, Michael; Briseño-Ruiz, Jessica; Revu, Shankar; Granjeiro, José Mauro; Antunes, Leonardo Santos; Abreu, Fernanda Volpe de; Costa, Marcelo C.; Tannure, Patrícia Nivoloni; Koruyucu, Mine; Patır, Aslı; Poletta, Fernando A.; Mereb, Juan C.; Castilla, Eduardo E.; Orioli, Iêda M.; Marazita, Mary L.; Ouyang, Hongjiao; Jayaraman, Thottala; Seymen, Figen; Vieira, Alexandre R.

doi:10.1186/1471-2350-15-81

Cited by 35 publications

(26 citation statements)

References 44 publications

(51 reference statements)

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“…Therefore, they often intentionally avoid sweet food and, subsequently, have low caries intensity [Shuler, 2001]. Interesting research was presented by Weber et al [2014]; however, it was not included in the review because of a different type of gene analysed. They examined the ESRRB gene for the oestrogen-related receptor-β, the mutation of which can lead to hearing impairment.…”

Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphism in the Aetiology of Caries: Systematic Literature Review

Turska‐Szybka²,

2017

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Recent progress in the field of molecular biology and techniques of DNA sequence analysis allowed determining the meaning of hereditary factors of many common human diseases. Studies of genetic mechanisms in the aetiology of caries encompass, primarily, 4 main groups of genes responsible for (1) the development of enamel, (2) formation and composition of saliva, (3) immunological responses, and (4) carbohydrate metabolism. The aim of this study was to present current knowledge about the influence of single nucleotide polymorphism (SNP) genetic variants on the occurrence of dental caries. PubMed/Medline, Embase, and Cochrane Library databases were searched for papers on the influence of genetic factors connected with SNP on the occurrence of dental caries in children, teenagers, and adults. Thirty original papers written in English were included in this review. Study groups ranged from 30 to 13,000 subjects. SNPs were observed in 30 genes. Results of the majority of studies confirm the participation of hereditary factors in the aetiology of caries. Three genes, AMELX, AQP5, and ESRRB, have the most promising evidence based on multiple replications and data, supporting a role of these genes in caries. The review of the literature proves that SNP is linked with the aetiology of dental caries.

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Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphism in the Aetiology of Caries: Systematic Literature Review

Turska‐Szybka²,

2017

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“…Mutations in this gene have also been associated with hearing impairment and dental decay 35 . In addition, upregulation of ESRRB has been linked with the progression of endometriosis 3 .…”

Section: Discussionmentioning

confidence: 99%

Genetic and familial predisposition to rotator cuff disease: a systematic review

Dabija

Gao

Edwards

et al. 2017

Journal of Shoulder and Elbow Surgery

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Background Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and likely extends beyond repetitive micro-trauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease. Methods A literature search of PubMed and EMBASE databases identified 251 citations. After reviewing the titles, abstracts, and full articles, seven met our inclusion/exclusion criteria. Results Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A five-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears. The other three studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGFR3, ESRRB, and FGF10, and two single nucleotide polymorphisms within SAP30BP and SASH1. Conclusion Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions. Level of Evidence Systematic Review

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“…Our previous work aimed to explore the role of ESRRB in the oral tissues and found the association of this gene with caries susceptibility as well as its expression in the salivary gland and in the enamel development [Weber et al, 2014]. ESRRB is expressed in enamel development and could have a role in the calcium composition in the enamel.…”

Section: Discussionmentioning

confidence: 99%

“…However, it is also possible that the association between ESRRB and calcium level in saliva is through the salivary gland function. Although we demonstrated that this gene is expressed in salivary gland [Weber et al, 2014], its role in salivary function is still unknown.…”

Section: Discussionmentioning

confidence: 99%

Genes Involved in the Enamel Development Are Associated with Calcium and Phosphorus Level in Saliva

et al. 2017

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Saliva components play a crucial role in the integrity of the dental enamel and in caries susceptibility. The saliva characteristics are controlled by many factors, including genetic factors. Therefore, this study aimed to evaluate the association between the genetic variations in genes expressed in enamel development with calcium and phosphorus levels in saliva. We collected 276 unrelated 12-year-old children from private and public schools. Saliva was collected for DNA extraction from oral cells and for measurement of calcium and phosphorus. Inductively coupled plasma-mass spectrometry determined calcium and phosphorus levels in whole saliva. Fifteen genetic variations in 9 genes were analyzed. The genotype was determined by real-time polymerase chain reactions. Data were analyzed using Plink with an alpha of 5%. Genetic variations in AMELX, AMNB and ESRRB were associated with the calcium level in saliva (p < 0.05). A borderline association was observed in ENAM allele distribution shown with phosphate level in saliva (p = 0.049). In conclusion, our results are the first to report that genetic variations contribute to calcium and phosphorus levels in saliva.

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

Cited by 35 publications

References 44 publications

Single Nucleotide Polymorphism in the Aetiology of Caries: Systematic Literature Review

Single Nucleotide Polymorphism in the Aetiology of Caries: Systematic Literature Review

Genetic and familial predisposition to rotator cuff disease: a systematic review

Genes Involved in the Enamel Development Are Associated with Calcium and Phosphorus Level in Saliva

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