G2Cdb::Human Disease report

Disease id
D00000289
Name
Infantile pyloric stenosis
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00000030 NOS1
nitric oxide synthase 1 (neuronal)
Y (8571963) Unknown (?) Y

References

  • Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis.

    Chung E, Curtis D, Chen G, Marsden PA, Twells R, Xu W and Gardiner M

    Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom. echung@hgmp.mrc.ac.uk

    The etiological role of the gene for neuronal nitric oxide synthase (NOS1) in infantile pyloric stenosis (PS) was investigated by analysis of two intragenic polymorphisms (NOS1a and NOS1b) in 27 families. There was significant overall transmission disequilibrium between PS and NOS1a (P = .006). Consideration of each allele independently revealed a highly significant tendency for allele 7 (210 bp) to be preferentially transmitted to the affected offspring (P = .0006). These observations suggest that NOS1 is a susceptibility locus for PS.

    American journal of human genetics 1996;58;2;363-70

Literature (1)

Pubmed - human_disease

  • Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis.

    Chung E, Curtis D, Chen G, Marsden PA, Twells R, Xu W and Gardiner M

    Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom. echung@hgmp.mrc.ac.uk

    The etiological role of the gene for neuronal nitric oxide synthase (NOS1) in infantile pyloric stenosis (PS) was investigated by analysis of two intragenic polymorphisms (NOS1a and NOS1b) in 27 families. There was significant overall transmission disequilibrium between PS and NOS1a (P = .006). Consideration of each allele independently revealed a highly significant tendency for allele 7 (210 bp) to be preferentially transmitted to the affected offspring (P = .0006). These observations suggest that NOS1 is a susceptibility locus for PS.

    American journal of human genetics 1996;58;2;363-70

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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