RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

Journal of Medical Genetics

Volumn 37, Issue 8, 2000, Pages 572-578

  Borrego, Salud ^a   Eng, Charis ^b,c   Ruiz, Agustín ^a   Saez, María Eugenia ^a   Gimm, Oliver ^b   Gao, Xin ^b   López Alonso, Manuel ^a   Hernández, Antonio ^a   Wright, Fred A ^b   Antiñolo, Guillermo ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b OHIO STATE UNIVERSITY   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Chromosome 10; Polymorphisms; Transmission disequilibrium test

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE FREQUENCY; GENETIC PREDISPOSITION; GENOTYPE; HAPLOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; ONCOGENE RET; PRIORITY JOURNAL; STATISTICAL ANALYSIS;

EID: 0033854456     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.8.572     Document Type: Article

References (39)

1. Passarge E. The genetics of Hirschsprung's disease, N Engl J Med 1967;276;138-41.
2. Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fekété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 1993;4:346-50.
3. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fekété C, Ponder BAJ, Munnich A. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:378-80.
4. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H, Martucciello G. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:377-8.
5. Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. Am J Hum Genet 1990;46:568-80.
6. Ssntoro M, Rosato R, Grieco M, Berlingieri MT, Luca-Colucci D'Amato G, de Franciscis V, Fused A. The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene 1990;5:1595-8.
7. Nakamura T, Ishjzaka Y, Nagao M, Hara M, Ishikawa T. Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin. J Pathol 1994;172:255-60.
8. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, Ploos van Amstel HK, Lips CJM, Nishisho I, Takai S-I, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J,_ Nordenskjold M, Komminoth P, Hendy GN, Gharib H, Thibodeau SN, Lacroix A, Frilling A, Ponder BAJ, Mulligan LM. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. JAMA 1996;276:1575-9.
9. Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol 1999;17:380-93.
10. Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékéte C, Munnich A, Ponder BAJ, Lyonnet S. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 1995;4:1381-6.
11. Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CHCM, Cass DT, Chakravarti A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 1995;4:821-30.
12. Eng C, Mulligan LM. Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2, related sporadic tumours and Hirschsprung disease. Hum Mutat 1997;9:97-109.
13. Svensson PJ, Molander JL, Eng C, Anvret M, Nordenskjöld A. Low frequency of RET mutations in Hirschsprung disease in Sweden. Clin Genet 1998;54:39-44.
14. Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S. Germline mutations of the RET ligand, GDNF, are not sufficient to cause Hirschsprung disease. Nat Genet 1996;14:345-7.
15. Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 1996;14:341-4.
16. Ivanchuk SM, Myers SM, Eng C, Mulligan LM. De novo mutation of GDNF, ligand for RET/GDNFR-α receptor complex in Hirschsprung disease. Hum Mol Genet 1996;5:2023-6.
17. Edery P, Attié T, Amiel J, Pelet A, Eng C, Hofstra RMW, Martelli H, Bidaud C, Munnich A, Lyonnet S. Mutation of the endothelin-3 gene in Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12:442-4.
18. Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CHCM. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996;12:445-7.
19. Auricchio A, Casari G, Staiano A, Ballabio A. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet 1996;5:351-4.
20. Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 1996;S355-7.
21. Bidaud C, Salomon R, Vancamp G, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet 1997;5:247-51.
22. Chakravarti A. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 1996;5:303-7.
23. Kusafuka T, Wang Y, Puri P. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum Mol Genet 1996;5:347-9.
24. Puffenberger EG, Hosoda K, Washington SS, Nakao K, de Wit D, Yanagisawa M, Chakravarti A. A missense mutation of the endothelin B receptor gene in multigenic Hirschsprung's disease. Cell 1995;79:1257-66.
25. Mulligan LM, Eng C, Attié T, Lyonnet S, Marsh DJ, Hyland VJ, Robinson BG, Frilling A, Verellen-Dumoulin C, Safar A, Venter DJ, Munnich A, Ponder BAJ Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 1994;3:2163-7.
26. Borrego S, Eng C, Sánchez B, Sáez ME, Navarro E, Antiñolp G. Molecular analysis of RET and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung diease. J Clin Endocrinol Metab 1998;83:3361-64.
27. Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antiñolo G, Eng C. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 1999;36:771-4.
28. Fitze G, Schreiber M, Kuhlisch E, Schackert HK, Roesner D. Association of the RET proto-oncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 1999;65:1469-73.
29. Sancandi M, Ceccherini I, Costa M, Fava M, Chen B, Wu Y, Hofstra R, Laurie T, Griffths M, Burge D, Tam PK. Incidence of RET mutations in patients with Hirschsprung's disease. J Pediatr Surg 2000;35:139-42.
30. Eng C, Smith DP, Mulligan LM, Nagai MA, Healey CS, Ponder MA, Gardner E, Scheumann GFW, Jackson CE, Tunnacliffe A, Ponder BAJ. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 1994;3:237-41.
31. Ceccherini I, Hofstra RMW, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, Ronchetto P, Pasini B, Bozzano M, Buys CHCM, Romeo G. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogens 1994;9:3025-9.
32. Gimm O, Neuberg DS, Marsh DJ, Dahia PLM, Hoang-Vu C, Raue F, Hinze R, Dralle H, Eng C. Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 1999;18:1369-70.
33. Breslow NE, Day NE. Statistical methods in cancer research. Vol 1. The analysis of case-control studies. Lvon: IARC Press, 1998.
34. Falk CT, Rubinstein P. Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 1987;51:227-33.
35. Spielman RS, Ewens WJ. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 1996;59:983-9.
36. Lange K. Mathematical and statistical methods for genetic analysis. Berlin: Springer, 1998.
37. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM), Am J Hum Genet 1993;52:506-16.
38. Puffenberger EG, Kauffman E, Bolk S, Matise T, Washington S, Angrist M, Weissenbach J, Garver K, Mascari M, Ladda R, Slaugenhaupt S, Chakravarti A, Identity-by-descent and association mapping of a recessive gene for Hirschsprung's disease on chromosome 13q22. Hum Mol Genet 1994;3:1217-25.
39. Bolk S, Pelet A, Hofstra RMW, Angrist M, Salomon R, Croaker D, Buys CHCM, Lyonnet S, Chakravarti A. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA 2000;97:268-73.