Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Núñez Torres, Rocio ^a,b   Fernández, Raquel M ^a,b   Acosta, Manuel J ^a,b   Enguix Riego, Maria del Valle ^a,b   Marbá, Martina ^c   Carlos de Agustín, Juan ^a   Castaño, Luis ^d   Antiñolo, Guillermo ^a,b   Borrego, Salud ^a,b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^d HOSPITAL DE CRUCES   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; RET GENE; SEQUENCE ANALYSIS; SPAIN;

EID: 80053919539     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-138     Document Type: Article

References (20)

1. Chakravarti A, Lyonnet S. Hirschsprung Disease. The metabolic and molecular bases of inherited disease 2002, 2002:6231-6255. McGraw-Hill, Scriver CS.
2. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R, . Hirschsprung Disease Consortium Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008, 45:1-14. 10.1136/jmg.2007.055129, 17965226, Hirschsprung Disease Consortium.
3. Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 2005, 434:857-863. 10.1038/nature03467, 15829955.
4. Fernandez RM, Boru G, Pecina A, Jones K, Lopez-Alonso M, Antiñolo G, Borrego S, Eng C. Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 2005, 42:322-327. 10.1136/jmg.2004.023960, 1736040, 15805159.
5. Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 2010, 87(1):60-74. 10.1016/j.ajhg.2010.06.007, 2896767, 20598273.
6. Sribudiani Y, Metzger M, Osinga J, Rey A, Burns AJ, Thapar N, Hofstra RM. Variants in RET associated with Hirschsprung disease affect binding of transcription factors and gene expression. Gastroenterology 2011, 140(2):572-582. e2, 10.1053/j.gastro.2010.10.044, 20977903.
7. Ruiz-Ferrer F, Fernandez R, Antiñolo G, López- Alonso M, Eng C, Borrego S. A complex additive of inheritance for Hirschprung disease (HSCR) is supported by both RET mutations and predisposing RET haplotypes. Genet Med 2006, 8:1-6. 10.1097/01.gim.0000195892.60506.3f, 16418593.
8. Borrego S, Wright FA, Fernandez RM, Williams N, Lopez-Alonso M, Davuluri R, Antiñolo G, Eng C. 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 2003, 72:88-100. 10.1086/345466, 420016, 12474140.
9. Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med 2010, 12:39-43. 10.1097/GIM.0b013e3181c371b0, 20009762.
10. Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S. Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?. Mol Med Rep 2009, 2:265-270.
11. Zintzaras E, Lau J. Synthesis of genetic association studies for pertinent gene-disease associations requires appropriate methodological and statistical approaches. J Clin Epidemiol 2008, 61:634-45. 10.1016/j.jclinepi.2007.12.011, 18538260.
12. Zintzaras E. The generalized odds ratio as a measure of genetic risk effect in the analysis and meta-analysis of association studies. Stat Appl Genet Mol Biol 2010, 9:Article21.
13. Ruiz-Ferrer M, Fernandez RM, Antiñolo G, Lopez-Alonso M, Borrego S. NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease. J Pediatr Surg 2008, 43(7):1308-1311. 10.1016/j.jpedsurg.2008.02.076, 18639687.
14. Ruiz-Ferrer M, Torroglosa A, Luzón-Toro B, Fernández RM, Antiñolo G, Mulligan LM, Borrego S. Novel mutations at RET ligands genes preventing receptor activation are associated to Hirschsprung's disease. J Mol Med 2011, 89(5):471-80. 10.1007/s00109-010-0714-2, 21206993.
15. Fernandez RM, Robledo M, Antinolo G, Pecina A, Ruiz-Llorente S, Eng C, Borrego S. The RET IVS1-126G > T variant is strongly associated with the development of sporadic medullary thyroid cancer. Thyroid 2004, 14(4):329-331. 10.1089/105072504323031022, 15142370.
16. Fernández RM, Peciña A, Antiñolo G, Navarro E, Borrego S. Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid 2006, 16(4):411-417. 10.1089/thy.2006.16.411, 16646689.
17. Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique. BMC Med Genet 2009, 10:119-124. 10.1186/1471-2350-10-119, 2784767, 19925665.
18. Sánchez-Mejías A, Núñez-Torres R, Fernández RM, Antiñolo G, Borrego S. Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease. BMC Med Genet 2010, 11:71-79. 2877671, 20459765.
19. Mulligan LM, Eng C, Attié T, Lyonnet S, Marsh DJ, Hyland VJ, Robinson BG, Frilling A, Verellen-Dumoulin C, Safar A, et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 1994, 3:2163-2167. 10.1093/hmg/3.12.2163, 7881414.
20. Wu TT, Tsai TW, Chu CT, Lee ZF, Hung CM, Su CC, Li SY, Hsieh M, Li C. Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan. J Hum Genet 2005, 50(4):168-74. 10.1007/s10038-005-0236-x, 15834508.