Genomic variants in the coding region of neuronal nitric oxide synthase (NOS1) in infantile hypertrophic pyloric stenosis

Journal of Pediatric Surgery

Volumn 46, Issue 10, 2011, Pages 1903-1908

  Serra, Alexandre ^a   Schuchardt, Katrin ^b   Genuneit, Jon ^a   Leriche, Clothilde ^a   Fitze, Guido ^b  

^a UNIVERSITY OF ULM   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Infantile hypertrophic pyloric stenosis; NOS1 genomic variants; NOS1 linkage disequilibrium

Indexed keywords

NEURONAL NITRIC OXIDE SYNTHASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERTROPHIC PYLORUS STENOSIS; INFANT; INFANTILE HYPERTROPHIC PYLORIC STENOSIS; MALE; NEWBORN; PRIORITY JOURNAL; PROMOTER REGION;

5' UNTRANSLATED REGIONS; DISEASES IN TWINS; DNA; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; NITRIC OXIDE SYNTHASE TYPE I; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PYLORIC STENOSIS, HYPERTROPHIC;

EID: 80054739229     PISSN: 00223468     EISSN: 15315037     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2011.05.021     Document Type: Article

References (22)

1. R.M. Abel, A.E. Bishop, and C.J. Dore A quantitative study of the morphological and histochemical changes within the nerves and muscle in infantile hypertrophic pyloric stenosis J Ped Surg 33 5 1998 682 687
2. E. Chung, D. Curtis, and G. Chen Genetic evidence fort he neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis Am J Hum Genet 58 1996 363 370
3. L.E. Mitchel, and N. Risch The genetics of infantile hypertrophic pyloric stenosis: a reanalysis Am J Dis Chil 147 1993 1203 1211
4. J.M. Vanderwinden, P. Mailleux, and S.N. Schiffmann Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis New Engl J Med 327 1992 511 515
5. P.L. Huang, T.M. Dawson, and D.S. Bredt Targeted disruption of the neuronal nitric oxide synthase gene Cell 75 1993 1273 1286
6. D. Saur, J.M. Vanderwinden, and B. Seidler Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis Proc Nat Acad Sci 101 2004 1662 1667
7. C. Soderhall, and A. Nordenskjold Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. (Letter) Clin Genet 53 1998 421 422
8. K. Lagerstedt-Robinson, A. Svenningsson, and A. Nordenskjöld No association between a promoter NOS1 polymorphism (rs41279104) and infantile hypertrophic pyloric stenosis J Hum Genet 54 12 2009 706 708
9. X. Miao, M.M. Carcia-Barceló, and M.T. So Lack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population J Pediatr Surg 45 4 2010 709 713
10. S.W. Guo, and E.A. Thompson Performing the exact test of Hardy-Weinberg proportion for multiple alleles Biometrics 48 1992 361 372
11. C.R. Mehta, and N.R. Patel A network algorithm for performing Fisher's exact test in contingency tables J Am Stat Assoc 78 1983 427 434
12. R.M. Abel, A.E. Bishop, and C.J. Dore A quantitative study of the morphological and histochemical changes within the nerves and muscle in infantile hypertrophic pyloric stenosis J Ped Surg 33 5 1998 682 687
13. E.D. Sy, Y.S. Shan, and C.H. Lin Immature intrinsic nerve innervations of pyloric muscle in idiopathic hypertrophic pyloric stenosis J Formos Med Assoc 103 7 2004 558 561
14. N. Guarino, H. Shima, and T. Oue Glial-derived growth factor signalling pathway in infantile hypertrophic pyloric stenosis J Ped Surg 35 6 2000 835 839
15. E. Chung, R. Coffey, and K. Parker Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region J Med Genet 30 1993 393 395
16. E. Chung, D. Curtis, and G. Chen Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as susceptibility locus for infantily pyloric stenosis Am J Hum Genet 58 1996 363 370
17. R.M. Abel, A.E. Bishop, and G. Moscoso The ontogeny of innervation of the human pylorus J Pediatr Surg 33 4 1998 613 618
18. T. Takahashi Pathophysiological significance of neuronal nitric oxide synthase in the gastrointestinal tract (review) J Gastroenterol 38 2003 421 430
19. T. Kusafuka, and P. Puri Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis Pediatr Surg Int 12 1997 576 579
20. A.J. Page, T.A. O'Donnell, and N.J. Cooper Nitric oxide as an endogenous peripheral modulator of visceral sensory neuronal function J Neurosci 29 22 2009 7246 7255
21. D.V. Sivarao, H. Mashimo, and R.K. Goyal Pyloric sphincter dysfunction in nNOS -/- and W/Wv mutant mice: animals models of gastroparesis and duodeno-gastric reflux Gastroenterology 135 4 2008 1258 1266
22. K.V. Everett, B.A. Chioza, and C. Georgula Genome-wide high-density SNP-based linkage analysis of infantile hypertrophy pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23 Am J Hum Genet 82 2008 756 762