Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease

Journal of Pediatric Surgery

Volumn 49, Issue 11, 2014, Pages 1614-1618

  Gunadi, ^a,b   Kapoor, Ashish ^b   Ling, Albee Yun ^b   Rochadi, ^a   Makhmudi, Akhmad ^a   Herini, Elisabeth Siti ^a   Sosa, Maria X ^b   Chatterjee, Sumantra ^b   Chakravarti, Aravinda ^b  

^a GADJAH MADA UNIVERSITY   (Indonesia)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Common polymorphisms; Genetic interaction; Hirschsprung disease; Indonesian cases

Indexed keywords

GENOMIC DNA;

ALLELE; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DNA ISOLATION; DNA POLYMORPHISM; FEMALE; GENE; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC MARKER; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; INDONESIA; INDONESIAN; MAJOR CLINICAL STUDY; MALE; NRG1 GENE; PHENOTYPE; RET GENE;

EID: 84919430145     PISSN: 00223468     EISSN: 15315037     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2014.04.011     Document Type: Article

References (23)

1. A. Chakravarti, and S. Lyonnet Hirschsprung Disease C.R. Scriver, A.L. Beaudet, D. Valle, W.S. Sly, B. Childs, K. Kinzler, B. Vogelstein, The metabolic and molecular bases of inherited disease 8th ed. 2001 McGraw-Hill New York 6231 6255
2. G. Martucciello, A. Pini Prato, and P. Puri Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies J Pediatr Surg 40 2005 1527 1531
3. G. Martucciello Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench Eur J Pediatr Surg 18 2008 140 149
4. J. Amiel, E. Sproat-Emison, and M. Garcia-Barcelo Hirschsprung disease, associated syndromes and genetics: a review J Med Genet 45 2008 1 14
5. M.M. Alves, Y. Sribudiani, and R.W. Brouwer Contribution of rare and common variants determine complex diseases - Hirschsprung disease as a model Dev Biol 382 2013 320 329
6. E.S. Emison, A.S. McCallion, and C.S. Kashuk A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk Nature 434 2005 857 863
7. E.S. Emison, M. Garcia-Barcelo, and E.A. Grice Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability Am J Hum Genet 87 2010 60 74
8. F. Lantieri, P. Griseri, and F. Puppo Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles Ann Hum Genet 70 2006 12 26
9. M.M. Garcia-Barcelo, C.S. Tang, and E.S. Ngan Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease Proc Natl Acad Sci U S A 106 2009 2694 2699
10. H. Gui, W.K. Tang, and M.T. So RET and NRG1 interplay in Hirschsprung disease Hum Genet 132 2013 591 600
11. T. Phusantisampan, S. Sangkhathat, and A. Phongdara Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients J Hum Genet 57 2012 286 293
12. M.M. Carrasquillo, A.S. McCallion, and E.G. Puffenberger Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease Nat Genet 32 2002 237 244
13. A. Ananta Changing ethnic composition and potential violent conflict in Riau Archipelago, Indonesia: an early warning signal Popul Rev 45 2006 48 68
14. L.L. Cavalli-Sforza The Chinese human genome diversity project Proc Natl Acad Sci U S A 95 1998 11501 11503
15. Z. Jixu The rise of the agricultural civilization in China Sino-Platonic Papers 175 2006 1 38
16. A. Tajima, I.H. Pan, and G. Fucharoen Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia Hum Genet 110 2002 80 88
17. C.C. Li Human genetics: principles and methods 1961 McGraw Hill Book Co. New York
18. R.S. Spielman, R.E. McGinnis, and W.J. Ewens Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM) Am J Hum Genet 52 1993 506 516
19. S. Purcell, B. Neale, and K. Todd-Brown PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 2007 559 575
20. R Core Team R: A language and environment for statistical computing 2013 R Foundation for Statistical Computing Vienna, Austria [URL http://www.R-project.org/]
21. The 1000 Genomes Project Consortium: a map of human genome variation from population-scale sequencing Nature 467 2010 1061 1073
22. S.W. Moore, and M.G. Zaahl Tissue specific somatic mutations and aganglionosis in Hirschsprung's disease J Pediatr Surg 49 2 2014 258 261
23. A. Barlow, E. de Graaff, and V. Pachnis Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET Neuron 40 2003 905 916