Abstract
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.
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- Bult H., Boeckxstaens G. E., Pelckmans P. A., Jordaens F. H., Van Maercke Y. M., Herman A. G. Nitric oxide as an inhibitory non-adrenergic non-cholinergic neurotransmitter. Nature. 1990 May 24;345(6273):346–347. doi: 10.1038/345346a0. [DOI] [PubMed] [Google Scholar]
- CARTER C. O. The inheritance of congenital pyloric stenosis. Br Med Bull. 1961 Sep;17:251–254. doi: 10.1093/oxfordjournals.bmb.a069918. [DOI] [PubMed] [Google Scholar]
- Carter C. O., Evans K. A. Inheritance of congenital pyloric stenosis. J Med Genet. 1969 Sep;6(3):233–254. doi: 10.1136/jmg.6.3.233. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Chakraborty R. The inheritance of pyloric stenosis explained by a multifactorial threshold model with sex dimorphism for liability. Genet Epidemiol. 1986;3(1):1–15. doi: 10.1002/gepi.1370030102. [DOI] [PubMed] [Google Scholar]
- Clerget-Darpoux F., Bonaïti-Pellié C., Hochez J. Effects of misspecifying genetic parameters in lod score analysis. Biometrics. 1986 Jun;42(2):393–399. [PubMed] [Google Scholar]
- Curtis D., Sham P. C. A note on the application of the transmission disequilibrium test when a parent is missing. Am J Hum Genet. 1995 Mar;56(3):811–812. [PMC free article] [PubMed] [Google Scholar]
- Dawson T. M., Bredt D. S., Fotuhi M., Hwang P. M., Snyder S. H. Nitric oxide synthase and neuronal NADPH diaphorase are identical in brain and peripheral tissues. Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7797–7801. doi: 10.1073/pnas.88.17.7797. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Dodge J. A. Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969. Arch Dis Child. 1975 Mar;50(3):171–178. doi: 10.1136/adc.50.3.171. [DOI] [PMC free article] [PubMed] [Google Scholar]
- HAYES M. A., GOLDENBERG I. S. The problems of infantile pyloric stenosis. Surg Gynecol Obstet. 1957 Feb;104(2):105–138. [PubMed] [Google Scholar]
- Hall A. V., Antoniou H., Wang Y., Cheung A. H., Arbus A. M., Olson S. L., Lu W. C., Kau C. L., Marsden P. A. Structural organization of the human neuronal nitric oxide synthase gene (NOS1). J Biol Chem. 1994 Dec 30;269(52):33082–33090. [PubMed] [Google Scholar]
- Hope B. T., Michael G. J., Knigge K. M., Vincent S. R. Neuronal NADPH diaphorase is a nitric oxide synthase. Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2811–2814. doi: 10.1073/pnas.88.7.2811. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Huang P. L., Dawson T. M., Bredt D. S., Snyder S. H., Fishman M. C. Targeted disruption of the neuronal nitric oxide synthase gene. Cell. 1993 Dec 31;75(7):1273–1286. doi: 10.1016/0092-8674(93)90615-w. [DOI] [PubMed] [Google Scholar]
- Keef K. D., Shuttleworth C. W., Xue C., Bayguinov O., Publicover N. G., Sanders K. M. Relationship between nitric oxide and vasoactive intestinal polypeptide in enteric inhibitory neurotransmission. Neuropharmacology. 1994 Nov;33(11):1303–1314. doi: 10.1016/0028-3908(94)90030-2. [DOI] [PubMed] [Google Scholar]
- Kidd K. K., Spence M. A. Genetic analyses of pyloric stenosis suggesting a specific maternal effect. J Med Genet. 1976 Aug;13(4):290–294. doi: 10.1136/jmg.13.4.290. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lalouel J. M., Morton N. E., MacLean C. J., Jackson J. Recurrence risks in complex inheritance with special regard to pyloric stenosis. J Med Genet. 1977 Dec;14(6):408–414. doi: 10.1136/jmg.14.6.408. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lander E. S., Schork N. J. Genetic dissection of complex traits. Science. 1994 Sep 30;265(5181):2037–2048. doi: 10.1126/science.8091226. [DOI] [PubMed] [Google Scholar]
- Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Li C. G., Rand M. J. Nitric oxide and vasoactive intestinal polypeptide mediate non-adrenergic, non-cholinergic inhibitory transmission to smooth muscle of the rat gastric fundus. Eur J Pharmacol. 1990 Dec 4;191(3):303–309. doi: 10.1016/0014-2999(90)94162-q. [DOI] [PubMed] [Google Scholar]
- Lowenstein C. J., Dinerman J. L., Snyder S. H. Nitric oxide: a physiologic messenger. Ann Intern Med. 1994 Feb 1;120(3):227–237. doi: 10.7326/0003-4819-120-3-199402010-00009. [DOI] [PubMed] [Google Scholar]
- MACMAHON B., MCKEOWN T. Infantile hypertrophic pyloric stenosis: data on 81 pairs of twins. Acta Genet Med Gemellol (Roma) 1955 Sep;4(3):320–329. doi: 10.1017/s1120962300020679. [DOI] [PubMed] [Google Scholar]
- MCLEAN M. M. The incidence of infantile pyloric stenosis in the north-east of Scotland. Arch Dis Child. 1956 Dec;31(160):481–482. doi: 10.1136/adc.31.160.481. [DOI] [PMC free article] [PubMed] [Google Scholar]
- METRAKOS J. D. Congenital hypertrophic pyloric stenosis in twins. Arch Dis Child. 1953 Oct;28(141):351–358. doi: 10.1136/adc.28.141.351. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Marletta M. A. Nitric oxide synthase structure and mechanism. J Biol Chem. 1993 Jun 15;268(17):12231–12234. [PubMed] [Google Scholar]
- Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215–1215. doi: 10.1093/nar/16.3.1215. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mitchell L. E., Risch N. The genetics of infantile hypertrophic pyloric stenosis. A reanalysis. Am J Dis Child. 1993 Nov;147(11):1203–1211. doi: 10.1001/archpedi.1993.02160350077012. [DOI] [PubMed] [Google Scholar]
- Moncada S., Higgs A. The L-arginine-nitric oxide pathway. N Engl J Med. 1993 Dec 30;329(27):2002–2012. doi: 10.1056/NEJM199312303292706. [DOI] [PubMed] [Google Scholar]
- Risch N. Linkage detection tests under heterogeneity. Genet Epidemiol. 1989;6(4):473–480. doi: 10.1002/gepi.1370060402. [DOI] [PubMed] [Google Scholar]
- Sham P. C., Curtis D. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet. 1995 Jul;59(Pt 3):323–336. doi: 10.1111/j.1469-1809.1995.tb00751.x. [DOI] [PubMed] [Google Scholar]
- Spielman R. S., McGinnis R. E., Ewens W. J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet. 1993 Mar;52(3):506–516. [PMC free article] [PubMed] [Google Scholar]
- Tam P. K., Chan J. Increasing incidence of hypertrophic pyloric stenosis. Arch Dis Child. 1991 Apr;66(4):530–531. doi: 10.1136/adc.66.4.530. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Twells R., Xu W., Ball D., Allotey R., Williamson R., Chamberlain S. Exclusion of the neuronal nitric oxide synthase gene and the human achaete-scute homologue I gene as candidate loci for spinal cerebellar ataxia 2. Am J Hum Genet. 1995 Jan;56(1):336–337. [PMC free article] [PubMed] [Google Scholar]
- Vanderwinden J. M., Mailleux P., Schiffmann S. N., Vanderhaeghen J. J., De Laet M. H. Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. N Engl J Med. 1992 Aug 20;327(8):511–515. doi: 10.1056/NEJM199208203270802. [DOI] [PubMed] [Google Scholar]
- Xu W., Gorman P., Sheer D., Bates G., Kishimoto J., Lizhi L., Emson P. Regional localization of the gene coding for human brain nitric oxide synthase (NOS1) to 12q24.2-->24.31 by fluorescent in situ hybridization. Cytogenet Cell Genet. 1993;64(1):62–63. doi: 10.1159/000133562. [DOI] [PubMed] [Google Scholar]