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Article: Family-based association study showing that immunoglobulin a nephropathy is associated with the polymorphisms 2093C and 2180T in the 3′ untranslated region of the Megsin gene

TitleFamily-based association study showing that immunoglobulin a nephropathy is associated with the polymorphisms 2093C and 2180T in the 3′ untranslated region of the Megsin gene
Authors
Issue Date2004
PublisherAmerican Society of Nephrology. The Journal's web site is located at http://www.jasn.org
Citation
Journal Of The American Society Of Nephrology, 2004, v. 15 n. 7, p. 1739-1743 How to Cite?
AbstractImmunoglobulin A nephropathy (IgAN) is considered to be a multifactorial disease with genetic and environmental factors contributing to its pathogenesis. The genes involved in susceptibility and progression of the disease have not yet been clearly elucidated. Megsin (SERPINB7) is an important candidate gene, predominantly expressed in glomerular mesangium and upregulated in IgAN. To investigate the potential role of this and other genes in IgAN, patients with biopsy-proven IgAN were recruited, as were family members, for a family-based association study. The genotypes of the polymorphisms C2093T and C2180T within the 3′ untranslated region of the gene were determined by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing. The results were analyzed by transmission disequilibrium test (TDT) and haplotype relative risk (HRR). TDT analyses revealed that Megsin 2093C and 2180T alleles were significantly more transmitted from heterozygous parents to patients than expected (C2093T: 127 trios, P = 0.034, C2180T: 100 trios, P = 0.002). Extended TDT showed increased cotransmission of the 2093C and 2180T alleles (232 families, P < 0.001). HRR revealed that the 2093C and 2180T alleles were more often transmitted to patients (P = 0.014, <0.001, respectively). Genetic variation in Megsin confers susceptibility to IgAN.
Persistent Identifierhttp://hdl.handle.net/10722/162923
ISSN
2015 Impact Factor: 8.491
2015 SCImago Journal Rankings: 4.699
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLi, YJen_HK
dc.contributor.authorDu, Yen_HK
dc.contributor.authorLi, CXen_HK
dc.contributor.authorGuo, Hen_HK
dc.contributor.authorLeung, JCKen_HK
dc.contributor.authorLam, MFen_HK
dc.contributor.authorYang, Nen_HK
dc.contributor.authorHuang, Fen_HK
dc.contributor.authorChen, Yen_HK
dc.contributor.authorFang, JQen_HK
dc.contributor.authorMaxwell, PHen_HK
dc.contributor.authorLai, KNen_HK
dc.contributor.authorWang, Yen_HK
dc.date.accessioned2012-09-05T05:25:23Z-
dc.date.available2012-09-05T05:25:23Z-
dc.date.issued2004en_HK
dc.identifier.citationJournal Of The American Society Of Nephrology, 2004, v. 15 n. 7, p. 1739-1743en_HK
dc.identifier.issn1046-6673en_HK
dc.identifier.urihttp://hdl.handle.net/10722/162923-
dc.description.abstractImmunoglobulin A nephropathy (IgAN) is considered to be a multifactorial disease with genetic and environmental factors contributing to its pathogenesis. The genes involved in susceptibility and progression of the disease have not yet been clearly elucidated. Megsin (SERPINB7) is an important candidate gene, predominantly expressed in glomerular mesangium and upregulated in IgAN. To investigate the potential role of this and other genes in IgAN, patients with biopsy-proven IgAN were recruited, as were family members, for a family-based association study. The genotypes of the polymorphisms C2093T and C2180T within the 3′ untranslated region of the gene were determined by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing. The results were analyzed by transmission disequilibrium test (TDT) and haplotype relative risk (HRR). TDT analyses revealed that Megsin 2093C and 2180T alleles were significantly more transmitted from heterozygous parents to patients than expected (C2093T: 127 trios, P = 0.034, C2180T: 100 trios, P = 0.002). Extended TDT showed increased cotransmission of the 2093C and 2180T alleles (232 families, P < 0.001). HRR revealed that the 2093C and 2180T alleles were more often transmitted to patients (P = 0.014, <0.001, respectively). Genetic variation in Megsin confers susceptibility to IgAN.en_HK
dc.languageengen_US
dc.publisherAmerican Society of Nephrology. The Journal's web site is located at http://www.jasn.orgen_HK
dc.relation.ispartofJournal of the American Society of Nephrologyen_HK
dc.subject.mesh3' Untranslated Regionsen_US
dc.subject.meshAdulten_US
dc.subject.meshAllelesen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshDisease Progressionen_US
dc.subject.meshFamily Healthen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshGenetic Variationen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlomerulonephritis, Iga - Geneticsen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshSequence Analysis, Dnaen_US
dc.subject.meshSerpins - Genetics - Physiologyen_US
dc.titleFamily-based association study showing that immunoglobulin a nephropathy is associated with the polymorphisms 2093C and 2180T in the 3′ untranslated region of the Megsin geneen_HK
dc.typeArticleen_HK
dc.identifier.emailLeung, JCK: jckleung@hku.hken_HK
dc.identifier.emailLai, KN: knlai@hku.hken_HK
dc.identifier.authorityLeung, JCK=rp00448en_HK
dc.identifier.authorityLai, KN=rp00324en_HK
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1097/01.ASN.0000130858.00688.46en_HK
dc.identifier.pmid15213261-
dc.identifier.scopuseid_2-s2.0-3042526309en_HK
dc.identifier.hkuros99275-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-3042526309&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume15en_HK
dc.identifier.issue7en_HK
dc.identifier.spage1739en_HK
dc.identifier.epage1743en_HK
dc.identifier.isiWOS:000222275600008-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLi, YJ=8930727500en_HK
dc.identifier.scopusauthoridDu, Y=49762851000en_HK
dc.identifier.scopusauthoridLi, CX=26663041900en_HK
dc.identifier.scopusauthoridGuo, H=55468683900en_HK
dc.identifier.scopusauthoridLeung, JCK=7202180349en_HK
dc.identifier.scopusauthoridLam, MF=35300050600en_HK
dc.identifier.scopusauthoridYang, N=7202173206en_HK
dc.identifier.scopusauthoridHuang, F=55466195100en_HK
dc.identifier.scopusauthoridChen, Y=7601429773en_HK
dc.identifier.scopusauthoridFang, JQ=8900726800en_HK
dc.identifier.scopusauthoridMaxwell, PH=35399996300en_HK
dc.identifier.scopusauthoridLai, KN=7402135706en_HK
dc.identifier.scopusauthoridWang, Y=13310049900en_HK

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