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Article: Lack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population

TitleLack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population
Authors
KeywordsInfantile hypertrophic pyloric stenosis
nNOS
Polymorphism
Susceptibility
Issue Date2010
PublisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurg
Citation
Journal Of Pediatric Surgery, 2010, v. 45 n. 4, p. 709-713 How to Cite?
AbstractBackground: Infantile hypertrophic pyloric stenosis (IHPS) is one of the most common gastrointestinal obstructions in the infancy requiring surgery. Reduced expression of neuronal nitric oxide synthase (nNOS), which plays an important role in the regulation of the human pyloric muscle, is thought to underlie IHPS. The role of nNOS in IHPS has been supported by the genetic association of a functional regulatory nNOS polymorphism (-84G>A) with IHPS in whites. We reasoned that the corroboration of this association in a population of different ethnic origin would prompt follow-up studies and further investigation of the IHPS pathology at molecular level. Thus, we attempted to reproduce the original findings in a Chinese population of comparable size in what would be the first genetic study on IHPS conducted in Chinese. Methods: nNOS -84G>A genotypes were analyzed in 56 patients and 86 controls by polymerase chain reaction and DNA sequencing. Logistic regression was used to compute odds ratios. Results: Our study could not corroborate the association previously reported. Although the frequency of the IHPS-associated allele (-84A) in controls (0.205) was similar to that reported for white controls, there was a dramatic difference in -84A frequencies between white and Chinese patients (0.198). Similarly, there was no difference in the nNOS -84G>A genotype distribution between patients and controls, even when the GA and AA genotypes were combined to compare GG genotype (odds ratio, 1.01; 95% confidence interval, 0.47-2.19). Conclusions: Failure to replicate the initial finding does not detract from its validity, because genetic effects may differ across populations. Differences across populations in linkage disequilibrium and/or allele frequencies may contribute to this lack of replication. The role nNOS in IHPS awaits further investigation. © 2010 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/83700
ISSN
2015 Impact Factor: 1.733
2015 SCImago Journal Rankings: 0.802
ISI Accession Number ID
Funding AgencyGrant Number
Hong Kong Research Grants CouncilHKU 7756/08M
Funding Information:

We extend our gratitude to all the subjects who participated in the study. This work was supported by the research grant HKU 7756/08M from the Hong Kong Research Grants Council to PKT.

References

 

DC FieldValueLanguage
dc.contributor.authorMiao, Xen_HK
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorSo, Mten_HK
dc.contributor.authorTang, Wken_HK
dc.contributor.authorDong, Xen_HK
dc.contributor.authorWang, Ben_HK
dc.contributor.authorMao, Jen_HK
dc.contributor.authorNgan, ESwen_HK
dc.contributor.authorChen, Yen_HK
dc.contributor.authorLui, VChen_HK
dc.contributor.authorWong, KKyen_HK
dc.contributor.authorLiu, Len_HK
dc.contributor.authorTam, PKhen_HK
dc.date.accessioned2010-09-06T08:44:10Z-
dc.date.available2010-09-06T08:44:10Z-
dc.date.issued2010en_HK
dc.identifier.citationJournal Of Pediatric Surgery, 2010, v. 45 n. 4, p. 709-713en_HK
dc.identifier.issn0022-3468en_HK
dc.identifier.urihttp://hdl.handle.net/10722/83700-
dc.description.abstractBackground: Infantile hypertrophic pyloric stenosis (IHPS) is one of the most common gastrointestinal obstructions in the infancy requiring surgery. Reduced expression of neuronal nitric oxide synthase (nNOS), which plays an important role in the regulation of the human pyloric muscle, is thought to underlie IHPS. The role of nNOS in IHPS has been supported by the genetic association of a functional regulatory nNOS polymorphism (-84G>A) with IHPS in whites. We reasoned that the corroboration of this association in a population of different ethnic origin would prompt follow-up studies and further investigation of the IHPS pathology at molecular level. Thus, we attempted to reproduce the original findings in a Chinese population of comparable size in what would be the first genetic study on IHPS conducted in Chinese. Methods: nNOS -84G>A genotypes were analyzed in 56 patients and 86 controls by polymerase chain reaction and DNA sequencing. Logistic regression was used to compute odds ratios. Results: Our study could not corroborate the association previously reported. Although the frequency of the IHPS-associated allele (-84A) in controls (0.205) was similar to that reported for white controls, there was a dramatic difference in -84A frequencies between white and Chinese patients (0.198). Similarly, there was no difference in the nNOS -84G>A genotype distribution between patients and controls, even when the GA and AA genotypes were combined to compare GG genotype (odds ratio, 1.01; 95% confidence interval, 0.47-2.19). Conclusions: Failure to replicate the initial finding does not detract from its validity, because genetic effects may differ across populations. Differences across populations in linkage disequilibrium and/or allele frequencies may contribute to this lack of replication. The role nNOS in IHPS awaits further investigation. © 2010 Elsevier Inc. All rights reserved.en_HK
dc.languageengen_HK
dc.publisherWB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurgen_HK
dc.relation.ispartofJournal of Pediatric Surgeryen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectInfantile hypertrophic pyloric stenosisen_HK
dc.subjectnNOSen_HK
dc.subjectPolymorphismen_HK
dc.subjectSusceptibilityen_HK
dc.subject.meshAsian Continental Ancestry Group - genetics-
dc.subject.meshCase-Control Studies-
dc.subject.meshNitric Oxide Synthase Type I - genetics-
dc.subject.meshPolymorphism, Genetic-
dc.subject.meshPyloric Stenosis, Hypertrophic - genetics-
dc.titleLack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese populationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-3468&volume=45&issue=4&spage=709&epage=713&date=2010&atitle=Lack+of+association+between+nNOS+-84G>A+polymorphism+and+risk+of+infantile+hypertrophic+pyloric+stenosis+in+a+Chinese+populationen_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailTang, Wk: evelynt@hku.hken_HK
dc.identifier.emailNgan, ESw: engan@hkucc.hku.hken_HK
dc.identifier.emailLui, VCh: vchlui@hkucc.hku.hken_HK
dc.identifier.emailWong, KKy: kkywong@hkucc.hku.hken_HK
dc.identifier.emailTam, PKh: paultam@hkucc.hku.hken_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authorityTang, Wk=rp01629en_HK
dc.identifier.authorityNgan, ESw=rp00422en_HK
dc.identifier.authorityLui, VCh=rp00363en_HK
dc.identifier.authorityWong, KKy=rp01392en_HK
dc.identifier.authorityTam, PKh=rp00060en_HK
dc.description.naturepostprint-
dc.identifier.doi10.1016/j.jpedsurg.2009.07.067en_HK
dc.identifier.pmid20385275-
dc.identifier.scopuseid_2-s2.0-77950465235en_HK
dc.identifier.hkuros169669en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77950465235&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume45en_HK
dc.identifier.issue4en_HK
dc.identifier.spage709en_HK
dc.identifier.epage713en_HK
dc.identifier.isiWOS:000276523500007-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridMiao, X=7102585391en_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridSo, Mt=8748542200en_HK
dc.identifier.scopusauthoridTang, Wk=37462250200en_HK
dc.identifier.scopusauthoridDong, X=36986088300en_HK
dc.identifier.scopusauthoridWang, B=8922803000en_HK
dc.identifier.scopusauthoridMao, J=36022668200en_HK
dc.identifier.scopusauthoridNgan, ESw=22234827500en_HK
dc.identifier.scopusauthoridChen, Y=8926070600en_HK
dc.identifier.scopusauthoridLui, VCh=7004231344en_HK
dc.identifier.scopusauthoridWong, KKy=24438686400en_HK
dc.identifier.scopusauthoridLiu, L=15755841400en_HK
dc.identifier.scopusauthoridTam, PKh=7202539421en_HK

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