Role of TRAV locus in low caries experience
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- 作者：Jessica Brise?o-Ruiz (1)
Takehiko Shimizu (2)
Kathleen Deeley (1)
Piper M. Dizak (1)
Timothy D. Ruff (1)
Italo M. Faraco Jr. (1)
Fernando A. Poletta (3) (4)
Jo?o A. Brancher (5)
Giovana D. Pecharki (5)
Erika C. Küchler (1)
Patricia N. Tannure (6)
Andrea Lips (7)
Thays C. S. Vieira (7)
Asli Patir (8)
Mine Koruyucu (9)
Juan C. Mereb (10)
Judith M. Resick (1)
Carla A. Brandon (1)
Ariadne Letra (11)
Renato M. Silva (11)
Margaret E. Cooper (1)
Figen Seymen (9)
Marcelo C. Costa (6)
José M. Granjeiro (12) (7)
Paula C. Trevilatto (5)
Iêda M. Orioli (13)
Eduardo E. Castilla (3) (4)
Mary L. Marazita (1) (14)
Alexandre R. Vieira (1) (15) - 刊名：Human Genetics
- 出版年：2013
- 出版时间：September 2013
- 年：2013
- 卷：132
- 期：9
- 页码：1015-1025
- 全文大小：535KB
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Takehiko Shimizu (2)
Kathleen Deeley (1)
Piper M. Dizak (1)
Timothy D. Ruff (1)
Italo M. Faraco Jr. (1)
Fernando A. Poletta (3) (4)
Jo?o A. Brancher (5)
Giovana D. Pecharki (5)
Erika C. Küchler (1)
Patricia N. Tannure (6)
Andrea Lips (7)
Thays C. S. Vieira (7)
Asli Patir (8)
Mine Koruyucu (9)
Juan C. Mereb (10)
Judith M. Resick (1)
Carla A. Brandon (1)
Ariadne Letra (11)
Renato M. Silva (11)
Margaret E. Cooper (1)
Figen Seymen (9)
Marcelo C. Costa (6)
José M. Granjeiro (12) (7)
Paula C. Trevilatto (5)
Iêda M. Orioli (13)
Eduardo E. Castilla (3) (4)
Mary L. Marazita (1) (14)
Alexandre R. Vieira (1) (15)
1. Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, 614 Salk Hall, Pittsburgh, PA, 15261, USA
2. Department of Pediatric Dentistry, Nihon University of Dentistry at Matsudo, Matsudo, Chiba, Japan
3. ECLAMC (Latin American Collaborative Study of Congenital Malformations) at CEMIC (Center for Medical Education and Clinical Research), Buenos Aires, Argentina
4. ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) in Department of Genetics, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil
5. Center for Health and Biological Sciences, Pontifical Catholic University of Paraná (PUCPR), Curitiba, Brazil
6. Department of Pediatric Dentistry and Orthodontics, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
7. Clinical Research Unit, Biology Institute, Fluminense Federal University, Niterói, RJ, Brazil
8. Department of Pedodontics, Istanbul Medipol University, Istanbul, Turkey
9. Department of Pedodontics, Istanbul University, Istanbul, Turkey
10. ECLAMC at Hospital de Area El Bolsón, Río Negro, Argentina
11. Department of Endodontics, School of Dentistry, Pediatric Research Center, Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA
12. INMETRO, Duque de Caxias, RJ, Brazil
13. ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) in Department of Genetics, Institute of Biology, Center of Health Sciences, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
14. Department of Human Genetics, Center for Craniofacial and Dental Genetics, Clinical and Translational Science Institute, University of Pittsburgh, Pittsburgh, PA, USA
15. Department of Pediatric Dentistry, School of Dental Medicine, Center for Craniofacial and Dental Genetics, Clinical and Translational Science Institute, University of Pittsburgh, Pittsburgh, PA, USA
文摘
Caries is the most common chronic, multifactorial disease in the world today; and little is still known about the genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified five loci related to caries susceptibility: 5q13.3, 13q31.1, 14q11.2, 14q 24.3, and Xq27. In the present study, we fine mapped the 14q11.2 locus to identify genetic contributors to caries susceptibility. Four hundred seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. An additional 387 DNA samples from unrelated individuals were used to determine allele frequencies. For replication purposes, a total of 1,446 independent subjects from four different populations were analyzed based on their caries experience (low versus high). Forty-eight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect over transmission of alleles in the Filipino families, and Chi-square, Fisher’s exact and logistic regression were used to test for association between low caries experience and variant alleles in the replication data sets. We finally assessed the mRNA expression of TRAV4 in the saliva of 143 study subjects. In the Filipino families, statistically significant associations were found between low caries experience and markers in TRAV4. We were able to replicate these results in the populations studied that were characteristically from underserved areas. Direct sequencing of 22 subjects carrying the associated alleles detects one missense mutation (Y30R) that is predicted to be probably damaging. Finally, we observed higher expression in children and teenagers with low caries experience, correlating with specific alleles in TRAV4. Our results suggest that TRAV4 may have a role in protecting against caries.