Abstract | BACKGROUND:
Infantile hypertrophic pyloric stenosis (IHPS) is a common childhood pathology affecting 1 to 5:1000 newborns, with a genetic background suggested by familial occurrence. Neuronal nitric oxide synthase (NOS1) is a candidate gene owing to its role in the relaxation of smooth musculature and the association of the -84g>a variant of NOS1 with IHPS. METHODS: We investigated NOS1 through sequencing of the complete NOS1 coding region in DNA from 43 patients with IHPS compared the genotype frequencies to 47 controls using the Cochran-Armitage trend or Fisher exact tests. RESULTS: We found 19 polymorphisms in the coding region of NOS1. The variants c.3827-42_3827-43 del_insTA and c.+276 c>t were more frequent in IHPS with statistically significant exact P values (P = .010 and P = .039, respectively) yet failed to show significance after Bonferroni adjustment for multiple testing. We have also found a marginally significant occurrence of the variants c.-460A (P = .065) and c.2823+15G (P = .076). There was a significant correlation between the variants c.2706C>T ⬄ c.2823+15A>G, (r(2) = 1.00) and c.3258 C>T ⬄ c.3235+31A>G (r(2) = 1.00). CONCLUSIONS: We conclude that NOS1 variants are present in patients with IHPS yet show no significant statistical association with the IHPS phenotype, suggesting at best an adjuvant role for NOS1 in IHPS.
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Authors | Alexandre Serra, Katrin Schuchardt, Jon Genuneit, Clothilde Leriche, Guido Fitze |
Journal | Journal of pediatric surgery
(J Pediatr Surg)
Vol. 46
Issue 10
Pg. 1903-8
(Oct 2011)
ISSN: 1531-5037 [Electronic] United States |
PMID | 22008325
(Publication Type: Journal Article)
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Copyright | Copyright © 2011 Elsevier Inc. All rights reserved. |
Chemical References |
- 5' Untranslated Regions
- DNA
- NOS1 protein, human
- Nitric Oxide Synthase Type I
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Topics |
- 5' Untranslated Regions
(genetics)
- DNA
(genetics)
- Diseases in Twins
(genetics)
- Female
- Genetic Association Studies
- Genotype
- Humans
- Linkage Disequilibrium
- Male
- Nitric Oxide Synthase Type I
(genetics)
- Pedigree
- Phenotype
- Polymorphism, Genetic
- Polymorphism, Single Nucleotide
- Pyloric Stenosis, Hypertrophic
(epidemiology, genetics)
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