Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease

Journal of Medical Genetics

Volumn 40, Issue 9, 2003, Pages 714-718

  Sancandi, M ^a   Griseri, P ^a   Pesce, B ^a   Patrone, G ^a   Puppo, F ^a   Lerone, M ^a   Martucciello, G ^a   Romeo, G ^b   Ravazzolo, R ^a   Devoto, M ^c   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; HAPLOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTO ONCOGENE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID MEDULLARY CARCINOMA;

EID: 0042329921     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.9.714     Document Type: Article

References (26)

1. Chakravarti A, Lyonnet S. Hirschsprung disease. In: Scriver CS, et al. eds. The metabolic and molecular bases of inherited disease, New York McGraw-Hill, 2002:6231-55.
2. Badner JA, Sieber WK, Garver KL, et al. A genetic study of Hirschsprung disease. Am J Hum Genet 1990;46:568-80.
3. Bolk S, Pelet A, Hofstra R, et al. 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.
4. Gabriel SB, Salomon R, Pelet A, et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002;31:89-93.
5. Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 2001;38:729-39.
6. Carrasquillo MM, McCallion AS, Puffenberger EG, et al. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 2002;32:237-44.
7. Borrego S, Saez ME, Ruitz A, et al. Specific polymorphisms in the RET protooncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 1999;65:1469-73.
8. Fitze G, Screiber M, Kuhlish E, et al. Association of RET proto-oncogene codon 45 polymorphism with Hirshsprung disease. Am J Hum Genet 1999;65:1469-73.
9. Borrego S, Ruiz A, Saez ME, et al. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 2000;37:572-8.
10. Griseri P, Sancandi M, Patrone G, et al. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet 2000;8:721-4.
11. Fitze G, Cramer J, Ziegler A, et al. Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 2002;359:1200-5.
12. Griseri P, Pesce B, Patrone G, et al. A rare haplotype of the RET protooncogene is a risk-modifying allele in Hirschsprung disease. Am J Hum Genet 2002;71:969-74.
13. Borrego S, Wright FA, Fernandez RM, et al. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 2002;72:88-100.
14. Andrew SD, Delhanty PJ, Mulligan LM, et al. Sp1 and Sp3 transactivate the RET proto-oncogene promoter. Gene 2000;256:283-91.
15. Patrone G, Puppo F, Scaranari M, et al. Cell-line specific transcription rates of the RET gene and functional domains in its minimal promoter. Gene Funct Dis 2000;1:145-53.
16. Auricchio A, Griseri P, Carpentieri L, et al. Double heterozygosity for a RET substitution interfering with splicing and a EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 1999;64:1216-21.
17. Zhao JH, Curtis D, Sham PC. Model-free analysis and permutation tests for allelic associations. Hum Hered 2000;50:133-9.
18. Eng C, Mulligan LM. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related specific tumors, and Hirschsprung. Hum Mutat 1997;9:97-109.
19. Joosten PH, Toepoel M, Mariman EC, et al. Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects. Nat Genet 2001;27:215-17.
20. Morahan G, Huang D, Wu M, et al. Association of IL12B promoter polymorphism with severity of atopic and non-atopic asthma in children. Lancet 2002;360:455-9.
21. Tregouet DA, Barbaux S, Escolano S, et al. Specific haplotypes of the P-selectin gene are associated with myocardial infarction. Hum Mol Genet 2002;11:2015-23.
22. Vasseur F, Helbecque N, Dina C, et al. Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians. Hum Mol Genet 2002;11:2607-14.
23. Patrone G, Puppo F, Cusano R, et al. Nuclear run-on by biotin labelling, magnetic beads capture and fluorescent RT-PCR analysis of RNA. Biotechniques 2000;29:1012-17.
24. Ceccherini I, Hofstra RM, Luo Y, et al. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene. Oncogene 1994;9:3025-9.
25. Pasini B, Borrello MG, Greco A, et al. Loss of function effect of RET mutations causing Hirschsprung disease. Nat Genet 1995;10:35-40.
26. Santoro M, Carlomagno F, Romano A, et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 1995;267:381-3.