Inheritance of congenital pyloric stenosis.

Carter, C O; Evans, Kathleen

doi:10.1136/jmg.6.3.233

Cited by 207 publications

(99 citation statements)

References 7 publications

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“…2 In our collection of sporadic cases we have a sex ratio of 13:1 (data not shown). The reason for this discrepancy may be a bias on our collected material, in which familial cases were more predominant, and therefore not so successful in collecting all sporadic cases.…”

Section: Discussionmentioning

confidence: 95%

“…1 Males are more commonly affected than females, with reported ratios of 4:1. 2 The causes of IHPS are multifactorial, in which both environmental factors and hereditary factors are believed to contribute. Possible etiological factors include deficiency of nitric oxide synthase containing neurons, abnormal myenteric plexus innervation, infantile hypergastrinemia and recently exposure to macrolide antibiotics.…”

Section: Introductionmentioning

confidence: 99%

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No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

2009

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Infantile hypertrophic pyloric stenosis (IHPS) is a condition affecting infants in the first few months of life. The condition is manifested by persistent vomiting and is caused by a hypertrophied muscle obstructing the gastric outlet. The condition is treated by pyloromyotomy. The incidence is 1-8/1000 births and varies among different populations. The etiology of IHPS is unknown, but both genetic and environmental factors are thought to contribute to the disease. Genetic linkage analysis has so far localized five loci that could harbor genes contributing to IHPS. The only gene implicated in IHPS is the nitric oxide synthase gene (NOS1), in which a single nucleotide polymorphism (rs41279104) in the promoter region has been associated with the disease in 16 patients. In this study, we examined an association of this SNP in 54 familial and 28 sporadic cases with IHPS, and compared the results with normal controls using univariate and multiple logistic regression analysis. We could not confirm any association between the analyzed SNP and infantile hypertrophic pyloric stenosis.

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Section: Discussionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

2009

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“…2,3 IHPS is a well-defined clinical entity but the underlying disease causing mechanism remains unclear. A genetic contribution to the disease is well established by Carter and Evans description of families with IHPS (1961 and1969) and IHPS is regarded as a complex disease where both genetic and environmental factors are of importance for development of the disease. 2,4-6 Elucidation of the molecular background of the disease could give a better understanding of the pathophysiology, and possibly lead to identification of environmental risk factors that may be target for preventive measures.…”

Section: Introductionmentioning

confidence: 99%

“…The disorder is more common in boys with a sex ratio of 5:1 5 and estimated heritability is 87%. 3 Concordance rate of 46% is reported in monozygotic twins compared with 8% in dizygotic twins.…”

Section: Introductionmentioning

confidence: 99%

Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci

et al. 2011

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Infantile hypertrophic pyloric stenosis (IHPS) is a common cause of upper gastrointestinal obstruction during infancy. A multifactorial background of the disease is well established. Multiple susceptibility loci including the neuronal nitric oxide synthase (NOS1) gene have previously been linked to IHPS, but contradictory results of linkage studies in different materials indicate genetic heterogeneity. To identify IHPS susceptibility loci, we conducted a genome-wide linkage analysis in 37 Swedish families. In regions where the Swedish material showed most evidence in favor of linkage, 31 additional British IHPS families were analyzed. Evidence in favor of significant linkage was observed in the Swedish material to two loci on chromosome 2q24 (non-parametric linkage (NPL) ¼3.77) and 7p21 (NPL¼4.55). In addition, evidence of suggestive linkage was found to two loci on chromosome 6p21 (NPL¼2.97) and 12q24 (NPL¼2.63). Extending the material with British samples did not enhance the level of significance. Regions with linkage harbor interesting candidate genes, such as glucagon-like peptide-2 (GLP-2 encoded by the glucagon gene GCG), NOS1, motilin (MLN) and neuropeptide Y (NPY). The coding exons for GLP-2, and NPY were screened for mutations with negative results. In conclusion, we could confirm suggestive linkage to the region harboring the NOS1 gene and detected additional novel susceptibility loci for IHPS.

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“…IHPS shows familial aggregation and represents a paradigm for the multifactorial sexmodified threshold model of inheritance, with affected males outnumbering females in a 4:1 ratio 10 . IHPS is predicted to be oligogenic, determined by two or three loci of moderate effect estimated to confer individual genotype relative risks (GRRs) of up to 5 11 .…”

Section: Macmahon 2006 2 )mentioning

confidence: 99%

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24

et al. 2016

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Inheritance of congenital pyloric stenosis.

Cited by 207 publications

References 7 publications

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24

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