메뉴 건너뛰기




Volumn 57, Issue 2, 2012, Pages 115-121

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

Author keywords

families; infantile hypertrophic pyloric stenosis; linkage

Indexed keywords

GLUCAGON LIKE PEPTIDE 2; MOTILIN; NEURONAL NITRIC OXIDE SYNTHASE; NEUROPEPTIDE Y;

EID: 84857708611     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.137     Document Type: Article
Times cited : (16)

References (32)
  • 1
    • 57149086930 scopus 로고    scopus 로고
    • Infantile hypertrophic pyloric stenosis: Genes and environment
    • Chung, E. Infantile hypertrophic pyloric stenosis: genes and environment. Arch. Dis. Child. 93, 1003-1004 (2008).
    • (2008) Arch. Dis. Child. , vol.93 , pp. 1003-1004
    • Chung, E.1
  • 2
    • 0027382843 scopus 로고
    • The genetics of infantile hypertrophic pyloric stenosis: A reanalysis
    • Mitchell, L. E. & Risch, N. The genetics of infantile hypertrophic pyloric stenosis. A reanalysis. Am. J. Dis. Child. 147, 1203-1211 (1993). (Pubitemid 23331960)
    • (1993) American Journal of Diseases of Children , vol.147 , Issue.11 , pp. 1203-1211
    • Mitchell, L.E.1    Risch, N.2
  • 3
    • 77953637684 scopus 로고    scopus 로고
    • Familial aggregation and heritability of pyloric stenosis
    • Krogh, C., Fischer, T. K., Skotte, L., Biggar, R. J., Øyen, N., Skytthe, A. et al. Familial aggregation and heritability of pyloric stenosis. JAMA 303, 2393-2399 (2011).
    • (2011) JAMA , vol.303 , pp. 2393-2399
    • Krogh, C.1    Fischer, T.K.2    Skotte, L.3    Biggar, R.J.4    Øyen, N.5    Skytthe, A.6
  • 4
    • 0000285816 scopus 로고
    • The inheritance of congenital pyloric stenosis
    • Carter, C. O. The inheritance of congenital pyloric stenosis. Br. Med. Bull. 17, 251-254 (1961).
    • (1961) Br. Med. Bull. , vol.17 , pp. 251-254
    • Carter, C.O.1
  • 5
    • 0014577966 scopus 로고
    • Inheritance of congenital pyloric stenosis
    • Carter, C. O. & Evans, K. A. Inheritance of congenital pyloric stenosis. J. Med. Genet. 6, 233-254 (1969).
    • (1969) J. Med. Genet. , vol.6 , pp. 233-254
    • Carter, C.O.1    Evans, K.A.2
  • 6
    • 0022620791 scopus 로고
    • The inheritance of pyloric stenosis explained by a multifactorial threshold model with sex dimorphism for liability
    • Chakraborty, R. The inheritance of pyloric stenosis explained by a multifactorial threshold model with sex dimorphism for liability. Genet. Epidemiol. 3, 1-15 (1986). (Pubitemid 16146879)
    • (1986) Genetic Epidemiology , vol.3 , Issue.1 , pp. 1-15
    • Chakraborty, R.1
  • 7
    • 0019849565 scopus 로고
    • Probable autosomal dominant infantile pyloric stenosis in a large kindred
    • Fried, K., Aviv, S. & Nisenbaum, C. Probable autosomal dominant infantile pyloric stenosis in a large kindred. Clin. Genet. 20, 328-330 (1981). (Pubitemid 12212522)
    • (1981) Clinical Genetics , vol.20 , Issue.5 , pp. 328-330
    • Fried, K.1    Aviv, S.2    Nisenbaum, C.3
  • 8
    • 33746522253 scopus 로고    scopus 로고
    • Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity
    • DOI 10.1086/505952
    • Capon, F., Reece, A., Ravindrarajah, R. & Chung, E. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 79, 378-382 (2006). (Pubitemid 44141837)
    • (2006) American Journal of Human Genetics , vol.79 , Issue.2 , pp. 378-382
    • Capon, F.1    Reece, A.2    Ravindrarajah, R.3    Chung, E.4
  • 9
    • 50149098404 scopus 로고    scopus 로고
    • Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24
    • Everett, K. V., Capon, F., Georgoula, C., Chioza, B. A., Reece, A., Jaswon, M. et al. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur. J. Hum. Genet. 16, 1151-1154 (2008).
    • (2008) Eur. J. Hum. Genet. , vol.16 , pp. 1151-1154
    • Everett, K.V.1    Capon, F.2    Georgoula, C.3    Chioza, B.A.4    Reece, A.5    Jaswon, M.6
  • 10
    • 41149083499 scopus 로고    scopus 로고
    • Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosome 11q14-q22 and Xq23
    • Everett, K. V., Chioza, B. A., Georgoula, C., Reece, A., Capon, F., Parker, K. A. et al. Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosome 11q14-q22 and Xq23. Am. J. Hum. Genet. 82, 756-762 (2008).
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 756-762
    • Everett, K.V.1    Chioza, B.A.2    Georgoula, C.3    Reece, A.4    Capon, F.5    Parker, K.A.6
  • 11
    • 0027276395 scopus 로고
    • Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: No evidence for a major gene in this candidate region
    • Chung, E., Coffey, R., Parker, K., Tam, P., Pembrey, M. E. & Gardiner, R. M. Linkage analysis of infantile hypertrophic stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region. J. Med. Genet. 30, 393-395 (1993). (Pubitemid 23169274)
    • (1993) Journal of Medical Genetics , vol.30 , Issue.5 , pp. 393-395
    • Chung, E.1    Coffey, R.2    Parker, K.3    Tam, P.4    Pembrey, M.E.5    Gardiner, R.M.6
  • 12
    • 0030025706 scopus 로고    scopus 로고
    • 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, P. A., Twells, R., Xu, W. et al. Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis. Am. J. Hum. Genet. 58, 363-370 (1996). (Pubitemid 26038942)
    • (1996) American Journal of Human Genetics , vol.58 , Issue.2 , pp. 363-370
    • Chung, E.1    Curtis, D.2    Chen, G.3    Marsden, P.A.4    Twells, R.5    Xu, W.6    Gardiner, M.7
  • 14
    • 0031777125 scopus 로고    scopus 로고
    • Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families
    • Söderhä ll, C. & Nordenskjöld, A. Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. Clin. Genet. 53, 421-422 (1998).
    • (1998) Clin. Genet. , vol.53 , pp. 421-422
    • Söderhäll, C.1    Nordenskjöld, A.2
  • 15
    • 73649149041 scopus 로고    scopus 로고
    • No association between a promoter NOS1 polymorphism (rs41279104) and infantile hypertrophic pyloric stenosis
    • Lagerstedt-Robinson, K., Svenningsson, A. & Nordenskjöld, A. No association between a promoter NOS1 polymorphism (rs41279104) and infantile hypertrophic pyloric stenosis. J. Hum. Genet. 54, 706-708 (2009).
    • (2009) J. Hum. Genet. , vol.54 , pp. 706-708
    • Lagerstedt-Robinson, K.1    Svenningsson, A.2    Nordenskjöld, A.3
  • 16
    • 77950465235 scopus 로고    scopus 로고
    • Lack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population
    • Miao, X., Garcia-Barceló, M.M., So, M. T., Tang,W. K.,Dong, X.,Wang, B. et al. Lack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population. J. Pediatr. Surg. 45, 709-713 (2010).
    • (2010) J. Pediatr. Surg. , vol.45 , pp. 709-713
    • Miao, X.1    Garcia-Barceló, M.M.2    So, M.T.3    Tang, W.K.4    Dong, X.5    Wang, B.6
  • 17
    • 0028865860 scopus 로고
    • A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
    • Sheffield, V. C., Weber, J. L., Buetow, K. H., Muray, J. C., Even, D. A., Wiles, K. et al. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum. Mol. Genet. 4, 1837-44 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1837-44
    • Sheffield, V.C.1    Weber, J.L.2    Buetow, K.H.3    Muray, J.C.4    Even, D.A.5    Wiles, K.6
  • 18
    • 0034098774 scopus 로고    scopus 로고
    • Allegro, a new computer program for multipoint linkage analysis
    • DOI 10.1038/75514
    • Gudbjartsson, D. F., Jonasson, K., Frigge, M. L. & Kong, A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25, 12-13 (2000). (Pubitemid 30257026)
    • (2000) Nature Genetics , vol.25 , Issue.1 , pp. 12-13
    • Gudbjartsson, D.F.1    Jonasson, K.2    Frigge, M.L.3    Kong, A.4
  • 19
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander, E. & Kruglyak, L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11, 241-247 (1995).
    • (1995) Nat. Genet. , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 21
    • 48449097800 scopus 로고    scopus 로고
    • ENDEAVOUR update: A web resource for gene prioritization in multiple species
    • Tranchevent, L. C., Barriot, R., Yu, S., Van Vooren, S., Van Loo, P., Coessens, B. et al. ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic. Acids Res. 36 (Web Server issue), W377-W384 (2008).
    • (2008) Nucleic. Acids Res. , vol.36 , Issue.WEB SERVER ISSUE
    • Tranchevent, L.C.1    Barriot, R.2    Yu, S.3    Van Vooren, S.4    Van Loo, P.5    Coessens, B.6
  • 22
    • 40749108540 scopus 로고    scopus 로고
    • Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis
    • DOI 10.1016/j.jpedsurg.2007.10.006, PII S0022346807008160
    • Svenningsson, A., Lagerstedt, K., Omrani, M. D. & Nordenskjöld, A. Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis. J. Pediatr. Surg. 43, 443-446 (2008). (Pubitemid 351382047)
    • (2008) Journal of Pediatric Surgery , vol.43 , Issue.3 , pp. 443-446
    • Svenningsson, A.1    Lagerstedt, K.2    Omrani, M.D.3    Nordenskjold, A.4
  • 24
    • 0027769462 scopus 로고
    • Targeted disruption of the neuronal nitric oxide synthase gene
    • DOI 10.1016/0092-8674(93)90615-W
    • 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 75, 1273-1286 (1993). (Pubitemid 24021903)
    • (1993) Cell , vol.75 , Issue.7 , pp. 1273-1286
    • Huang, P.L.1    Dawson, T.M.2    Bredt, D.S.3    Snyder, S.H.4    Fishman, M.C.5
  • 25
    • 0030731786 scopus 로고    scopus 로고
    • Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis
    • DOI 10.1007/s003830050213
    • Kusafuka, T. & Puri, P. Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis. Pediatr. Surg. Int. 12, 576-579 (1997). (Pubitemid 27504055)
    • (1997) Pediatric Surgery International , vol.12 , Issue.8 , pp. 576-579
    • Kusafuka, T.1    Puri, P.2
  • 26
    • 33846581916 scopus 로고    scopus 로고
    • Review article: Glucagon-like peptide 2 - Current applications and future directions
    • DOI 10.1111/j.1365-2036.2006.03193.x
    • Wallis, K., Walters, J. R. & Forbes, A. Glucagon-like peptide 2-current applications and future directions. Aliment. Pharmacol. Ther. 25, 365-72 (2007). (Pubitemid 46184449)
    • (2007) Alimentary Pharmacology and Therapeutics , vol.25 , Issue.4 , pp. 365-372
    • Wallis, K.1    Walters, J.R.F.2    Forbes, A.3
  • 29
    • 0027942202 scopus 로고
    • NOS-containing neurons in the rat gut and coeliac ganglia
    • DOI 10.1016/0028-3908(94)90032-9
    • Ekblad, E., Mulder, H., Uddman, R. & Sundler, F. NOS-containing neurons in the rat gut and coeliac ganglia. Neuropharmacology. 33, 1323-1331 (1994). (Pubitemid 24353724)
    • (1994) Neuropharmacology , vol.33 , Issue.11 , pp. 1323-1331
    • Ekblad, E.1    Mulder, H.2    Uddman, R.3    Sundler, F.4
  • 31
    • 0034837871 scopus 로고    scopus 로고
    • Maternal and infant use of erythromycin and other macrolide antibiotics as risk factors for infantile hypertrophic pyloric stenosis
    • DOI 10.1067/mpd.2001.117577
    • Mahon, B. E., Rosenman, M. B. & Kleinman, M. B. Maternal and infant use of erythromycin and other macrolide antibiotics as risk factors for infantile hypertrophic pyloric stenosis. J. Pediatr. 139, 380-384 (2001). (Pubitemid 32889514)
    • (2001) Journal of Pediatrics , vol.139 , Issue.3 , pp. 380-384
    • Mahon, B.E.1    Rosenman, M.B.2    Kleiman, M.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.