A genome-wide association study of third molar agenesis in Japanese and Korean populations

Journal of Human Genetics

Volumn 58, Issue 12, 2013, Pages 799-803

  Haga, Shugo ^a   Nakaoka, Hirofumi ^b   Yamaguchi, Tetsutaro ^a   Yamamoto, Ken ^c   Kim, Yong Il ^d   Samoto, Hiroshi ^e   Ohno, Toshihide ^f   Katayama, Koshu ^a   Ishida, Hajime ^g   Park, Soo Byung ^d   Kimura, Ryosuke ^g   Maki, Koutaro ^a   Inoue, Ituro ^b  

^a SHOWA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF GENETICS   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

^d Pusan National University School of Medicine   (South Korea)

^e Aoyama R Orthodontics   (Japan)

^f Ohno Orthodontic Clinic   (Japan)

^g UNIVERSITY OF THE RYUKYUS   (Japan)

Author keywords

Agenesis; Congenitally missing; Genome wide association; Third molar

Indexed keywords

THROMBOSPONDIN 1;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 2; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPODONTIA; IMAGING SOFTWARE; JAPANESE; KOREA; MAJOR CLINICAL STUDY; MALE; MANDIBLE; MAXILLA; MEDICAL HISTORY; MIDDLE AGED; MOLAR TOOTH; PANORAMIC RADIOGRAPHY; PHENOTYPE; QUALITY CONTROL; SEX CHROMOSOME; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MOLAR, THIRD; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA; TOOTH ABNORMALITIES;

EID: 84890951039     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.106     Document Type: Article

References (45)

1. Silva, M. R. Radiographic assessment of congenitally missing teeth in orthodontic patients. Int. J. Paediatr. Dent. 13, 112-116 (2003).
2. Rozkovcová, E., Marková, M. & Dolejsí, J. Studies on agenesis of third molars amongst populations of different origin. Sb. Lek. 100, 71-84 (1999).
3. Harris, E. F. & Clark, L. L. Hypodontia: an epidemiologic study of American black and white people. Am. J. Orthod. Dentofacial Orthop. 134, 761-767 (2008).
4. Vastardis, H., Karimbux, N., Guthua, S. W., Seidman, J. G. & Seidman, C. E. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat. Genet. 13, 417-421 (1996).
5. Stockton, D. W., Das, P., Goldenberg, M., D'Souza, R. N. & Patel, P. I. Mutation of PAX9 is associated with oligodontia. Nat. Genet. 24, 18-19 (2000).
6. Lammi, L., Arte, S., Somer, M., Jarvinen, H., Lahermo, P., Thesleff, I. et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am. J. Hum. Genet. 74, 1043-1050 (2004).
7. van den Boogaard, M. J., Dorland, M., Beemer, F. A. & van Amstel, H. K. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat. Genet. 24, 342-343 (2000).
8. Bailleul-Forestier, I., Molla, M., Verloes, A. & Berdal, A. The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur. J. Med. Genet. 51, 273-291 (2008).
9. Karadayi, B., Kaya, A., Kolusayin, M. O., Karadayi, S., Afsin, H. & Ozaslan, A. Radiological age estimation: based on third molar mineralization and eruption in Turkish children and young adults. Int. J. Legal Med. 126, 933-942 (2012).
10. Harris, E. F. Mineralization of the mandibular third molar: a study of American blacks and whites. Am. J. Phys. Anthropol. 132, 98-109 (2007).
11. Bolaños, M. V., Moussa, H., Manrique, M. C. & Bolaños, M. J. Radiographic evaluation of third molar development in Spanish children and young people. Forensic Sci. Int. 133, 212-219 (2003).
12. Baba-Kawano, S., Toyoshima, Y., Regalado, L., Sa'do, B. & Nakasima, A. Relationship between congenitally missing lower third molars and late formation of tooth germs. Angle Orthod. 72, 112-117 (2002).
13. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
14. Patterson, N., Price, A. L. & Reich, D. Population structure and eigenanalysis. PLoS Genet. 2, e190 (2006).
15. Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A. & Reich, D. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006).
16. Nakaoka, H. & Inoue, I. Meta-analysis of genetic association studies: methodologies, between-study heterogeneity and winner's curse. J. Hum. Genet. 54, 615-623 (2009).
17. DerSimonian, R. & Laird, N. Meta-analysis in clinical trials. Control Clin. Trials 7, 177-188 (1986).
18. Cochran, W. G. The combination of estimates from different experiments. Biometrics 10, 101-129 (1954).
19. Higgins, J. P., Thompson, S. G., Deeks, J. J. & Altman, D. G. Measuring inconsistency in meta-analyses. BMJ 327, 557-560 (2003).
20. Hattori, E., Toyota, T., Ishitsuka, Y., Iwayama, Y., Yamada, K., Ujike, H. et al. Preliminary genome-wide association study of bipolar disorder in the Japanese population. Am. J. Med. Genet. B 150B, 1110-1117 (2009).
21. Low, S. K., Kuchiba, A., Zembutsu, H., Saito, A., Takahashi, A., Kubo, M. et al. Genome-wide association study of pancreatic cancer in Japanese population. PLoS One 5, e11824 (2010).
22. Wang, K. S., Liu, X., Zhang, Q., Pan, Y., Aragam, N. & Zeng, M A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. J. Psychiatr. Res. 45, 1419-1425 (2011).
23. Gobeil, S., Zhu, X., Doillon, C. J. & Green, M. R. A genome-wide shRNA screen identifies GAS1 as a novel melanoma metastasis suppressor gene. Genes Dev. 22, 2932e40 (2008).
24. Dorval, K. M., Wigg, K. G., Crosbie, J., Tannock, R., Kennedy, J. L., Ickowicz, A. et al. Association of the glutamate receptor subunit gene GRIN2B with attention-deficit/hyperactivity disorder. Genes Brain Behav. 6, 444-452 (2007).
25. O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S. et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat. Genet. 43, 585-589 (2011).
26. Aragam, N., Wang, K. S., Anderson, J. L. & Liu, X. TMPRSS9 and GRIN2B are associated with neuroticism: a genome-wide association study in a European sample. J. Mol. Neurosci. 50, 250-256 (2013).
27. Wu, M., Michaud, E. J. & Johnson, D. K. Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14. Mamm. Genome 14, 323-334 (2003).
28. de Greef, J. C., Wang, J., Balog, J., den Dunnen, J. T., Frants, R. R., Straasheijm, K. R. et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am. J. Hum. Genet. 88, 796-804 (2011).
29. Taoyun, J., Ye, W., Huifang, W., Jingmin, W. & Yuwu, J. Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay. J. Hum. Genet. 55, 486-489 (2010).
30. Nieminen, P., Arte, S., Pirinen, S., Peltonen, L. & Thesleff, I. Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes. Hum. Genet. 96, 305-308 (1995).
31. Mostowska, A., Biedziak, B. & Jagodzinski, P. P. Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars. Arch. Oral. Biol. 57, 790-795 (2012).
32. Lidral, A. C. & Reising, B. C. The role of MSX1 in human tooth agenesis. J. Dent. Res. 81, 274-278 (2002).
33. Sandhu, S. & Kaur, T. Radiographic evaluation of the status of third molars in the Asian-Indian students. J. Oral Maxillofac. Surg. 63, 640-645 (2005).
34. Celikoglu, M. & Kamak, H. Patterns of third-molar agenesis in an orthodontic patient population with different skeletal malocclusions. Angle Orthod. 82, 165-169 (2012).
35. Mok, Y. Y. & Ho, K. K. Congenitally absent third molars in 12 to 16 year old Singaporean Chinese patients: a retrospective radiographic study. Ann. Acad. Med. Singap. 25, 828-830 (1996).
36. Kazanci, F., Celikoglu, M., Miloglu, O. & Oktay, H. Third-molar agenesis among patients from the East Anatolian Region of Turkey. J. Contemp. Dent. Pract. 11, E033-E040 (2010).
37. Bailleul-Forestier, I., Molla, M., Verloes, A. & Berdal, A. The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur. J. Med. Genet. 51, 273-291 (2008).
38. Kajii, T. S., Sato, Y., Kajii, S., Sugawara, Y. & Iida, J. Agenesis of third molar germs depends on sagittal maxillary jaw dimensions in orthodontic patients in Japan. Angle Orthod. 74, 337-342 (2004).
39. Tan, S. P., van Wijk, A. J. & Prahl-Andersen, B. Severe hypodontia: identifying patterns of human tooth agenesis. Eur. J. Orthod. 33, 150-154 (2011).
40. Mitsiadis, T. A. & Luder, H. U. Genetic basis for tooth malformations: from mice to men and back again. Clin. Genet. 80, 319-329 (2011).
41. Ferguson, C. A., Tucker, A. S. & Sharpe, P. T. Temporospatial cell interactions regulating mandibular and maxillary arch patterning. Development 127, 403-412 (2000).
42. Wang, J., Jian, F., Chen, J., Wang, H., Lin, Y., Yang, Z. et al. Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family. Arch. Oral Biol. 56, 1027-1034 (2011).
43. Liang, J., Song, G., Li, Q. & Bian, Z. Novel missense mutations in PAX9 causing oligodontia. Arch. Oral Biol. 57, 784-789 (2012).
44. Hanihara, K. Racial characteristics in the dentition. J. Dent. Res. 46, 923-926 (1967).
45. Kanazawa, E., Sekikawa, M. & Ozaki, T. A quantitative investigation of irregular cuspules in human maxillary permanent molars. Am. J. Phys. Anthropol. 83, 173-180 (1990). Technology