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Article: Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population

TitleIdentification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population
Authors
KeywordsAssociation study
EPB41
Haplotype
Mandibular prognathism
SNPs
Issue Date2010
PublisherPergamon. The Journal's web site is located at http://www.elsevier.com/locate/archoralbio
Citation
Archives Of Oral Biology, 2010, v. 55 n. 11, p. 867-872 How to Cite?
AbstractObjective: The results of a genome-wide scan suggested that chromosome locus 1p36 might be linked to the etiology of mandibular prognathism (MP) amongst Asian ethnicities. In this study, we performed a two-stage case-control association study to determine whether one or more genes that confer susceptibility to MP are located within this genomic region. Design: In the first stage of the study, we examined 103 single nucleotide polymorphisms (SNPs) on 1p36 across an 8.6 Mb critical region and within four candidate genes in 158 cases and 147 controls to identify genes associated with MP. In the second stage of the study, we examined an additional 23 SNPs within the erythrocyte membrane protein band 4.1 (EPB41) gene in 211 cases and 224 controls. Results: Four SNPs located in the EPB41 gene showed possible allelic and genotypic associations with MP (P < 0.03 and P < 0.05, respectively) in the first stage. In the analysis of single SNPs in the second stage, the allele of rs4654388 showed the strongest significant association with MP (P = 0.008) and the rs4654388 G-allele was associated with a significantly increased risk of MP (OR: 1.78, 95% CI: 1.16-2.74). Haplotype analysis revealed that MP was associated significantly with haplotype GTTCAGGT (Pcorrected = 0.031), which included the rs4654388 G-allele. Conclusions: An association between genetic polymorphisms in the EPB41 gene and MP has been observed. Although the polymorphisms which may contribute to MP have not been determined, the results of our study suggest that the EPB41 gene could confer susceptibility to MP. © 2010 Elsevier Ltd. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/142263
ISSN
2015 Impact Factor: 1.733
2015 SCImago Journal Rankings: 0.713
ISI Accession Number ID
Funding AgencyGrant Number
Dr Victor and Mrs Leung Foundation, University of Hong Kong
Funding Information:

This work was supported by the Dr Victor and Mrs Leung Foundation, University of Hong Kong.

References

 

DC FieldValueLanguage
dc.contributor.authorXue, Fen_HK
dc.contributor.authorWong, Ren_HK
dc.contributor.authorRabie, ABMen_HK
dc.date.accessioned2011-10-28T02:41:55Z-
dc.date.available2011-10-28T02:41:55Z-
dc.date.issued2010en_HK
dc.identifier.citationArchives Of Oral Biology, 2010, v. 55 n. 11, p. 867-872en_HK
dc.identifier.issn0003-9969en_HK
dc.identifier.urihttp://hdl.handle.net/10722/142263-
dc.description.abstractObjective: The results of a genome-wide scan suggested that chromosome locus 1p36 might be linked to the etiology of mandibular prognathism (MP) amongst Asian ethnicities. In this study, we performed a two-stage case-control association study to determine whether one or more genes that confer susceptibility to MP are located within this genomic region. Design: In the first stage of the study, we examined 103 single nucleotide polymorphisms (SNPs) on 1p36 across an 8.6 Mb critical region and within four candidate genes in 158 cases and 147 controls to identify genes associated with MP. In the second stage of the study, we examined an additional 23 SNPs within the erythrocyte membrane protein band 4.1 (EPB41) gene in 211 cases and 224 controls. Results: Four SNPs located in the EPB41 gene showed possible allelic and genotypic associations with MP (P < 0.03 and P < 0.05, respectively) in the first stage. In the analysis of single SNPs in the second stage, the allele of rs4654388 showed the strongest significant association with MP (P = 0.008) and the rs4654388 G-allele was associated with a significantly increased risk of MP (OR: 1.78, 95% CI: 1.16-2.74). Haplotype analysis revealed that MP was associated significantly with haplotype GTTCAGGT (Pcorrected = 0.031), which included the rs4654388 G-allele. Conclusions: An association between genetic polymorphisms in the EPB41 gene and MP has been observed. Although the polymorphisms which may contribute to MP have not been determined, the results of our study suggest that the EPB41 gene could confer susceptibility to MP. © 2010 Elsevier Ltd. All rights reserved.en_HK
dc.languageengen_US
dc.publisherPergamon. The Journal's web site is located at http://www.elsevier.com/locate/archoralbioen_HK
dc.relation.ispartofArchives of Oral Biologyen_HK
dc.subjectAssociation studyen_HK
dc.subjectEPB41en_HK
dc.subjectHaplotypeen_HK
dc.subjectMandibular prognathismen_HK
dc.subjectSNPsen_HK
dc.subject.meshCytoskeletal Proteins - genetics-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshMembrane Proteins - genetics-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.subject.meshPrognathism - ethnology - genetics-
dc.titleIdentification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese populationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0003-9969&volume=55&issue=11&spage=867&epage=872&date=2010&atitle=Identification+of+SNP+markers+on+1p36+and+association+analysis+of+EPB41+with+mandibular+prognathism+in+a+Chinese+population-
dc.identifier.emailWong, R: fyoung@hku.hken_HK
dc.identifier.emailRabie, ABM: rabie@hku.hken_HK
dc.identifier.authorityWong, R=rp00038en_HK
dc.identifier.authorityRabie, ABM=rp00029en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.archoralbio.2010.07.018en_HK
dc.identifier.pmid20797695-
dc.identifier.scopuseid_2-s2.0-77957866267en_HK
dc.identifier.hkuros184147en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77957866267&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume55en_HK
dc.identifier.issue11en_HK
dc.identifier.spage867en_HK
dc.identifier.epage872en_HK
dc.identifier.isiWOS:000283913500007-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridXue, F=8373582400en_HK
dc.identifier.scopusauthoridWong, R=7402127170en_HK
dc.identifier.scopusauthoridRabie, ABM=7007172734en_HK
dc.identifier.citeulike7836839-

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