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Article: Complex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studies

TitleComplex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studies
Authors
Issue Date2004
Citation
Pharmacogenetics, 2004, v. 14 n. 11, p. 741-747 How to Cite?
AbstractThe α subunit of the heterotrimeric G protein Gs (Gsα) is involved in numerous physiological processes and is a primary determinant of cellular responses to extracellular signals. Genetic variations in the Gsα gene may play an important role in complex diseases and drug responses. To characterize the genetic diversity in this locus, we resequenced exons and flanking introns of the gene in 44 genomic samples and analysed the haplotype structure of the gene in an additional 50 African-Americans and 50 Caucasians. Significant differences in allele frequency for nearly all the genotyped single nucleotide polymorphism (SNPs) were detected between the two ethnic groups. Linkage disequilibrium (LD) analysis of this locus revealed two haplotype blocks characterized by strong LD and reduced haplotype diversity, especially in Caucasians. Between the two blocks is a narrow (approximately 3 kb) recombination hotspot centred on exons 4 and 5, and a widely used genetic marker in association studies in this region (rs7121) was in linkage equilibrium with the rest of the gene. The haplotype structure of the GNAS locus warrants reevaluation of previous association studies that used marker rs7121 and affects choice of SNP markers to be used in future studies of this locus. © 2004 Lippincott Williams & Wilkins.
Persistent Identifierhttp://hdl.handle.net/10722/170471
ISSN
2006 Impact Factor: 7.221
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYang, Wen_US
dc.contributor.authorWhite, Ben_US
dc.contributor.authorSpicer, EKen_US
dc.contributor.authorWeinstein, BLen_US
dc.contributor.authorHildebrandt, JDen_US
dc.date.accessioned2012-10-30T06:09:15Z-
dc.date.available2012-10-30T06:09:15Z-
dc.date.issued2004en_US
dc.identifier.citationPharmacogenetics, 2004, v. 14 n. 11, p. 741-747en_US
dc.identifier.issn0960-314Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/170471-
dc.description.abstractThe α subunit of the heterotrimeric G protein Gs (Gsα) is involved in numerous physiological processes and is a primary determinant of cellular responses to extracellular signals. Genetic variations in the Gsα gene may play an important role in complex diseases and drug responses. To characterize the genetic diversity in this locus, we resequenced exons and flanking introns of the gene in 44 genomic samples and analysed the haplotype structure of the gene in an additional 50 African-Americans and 50 Caucasians. Significant differences in allele frequency for nearly all the genotyped single nucleotide polymorphism (SNPs) were detected between the two ethnic groups. Linkage disequilibrium (LD) analysis of this locus revealed two haplotype blocks characterized by strong LD and reduced haplotype diversity, especially in Caucasians. Between the two blocks is a narrow (approximately 3 kb) recombination hotspot centred on exons 4 and 5, and a widely used genetic marker in association studies in this region (rs7121) was in linkage equilibrium with the rest of the gene. The haplotype structure of the GNAS locus warrants reevaluation of previous association studies that used marker rs7121 and affects choice of SNP markers to be used in future studies of this locus. © 2004 Lippincott Williams & Wilkins.en_US
dc.languageengen_US
dc.relation.ispartofPharmacogeneticsen_US
dc.subject.meshAfrican Americans - Geneticsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshEuropean Continental Ancestry Group - Geneticsen_US
dc.subject.meshGtp-Binding Protein Alpha Subunits, Gs - Geneticsen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshRecombination, Geneticen_US
dc.subject.meshReverse Transcriptase Polymerase Chain Reactionen_US
dc.titleComplex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studiesen_US
dc.typeArticleen_US
dc.identifier.emailYang, W:yangwl@hkucc.hku.hken_US
dc.identifier.authorityYang, W=rp00524en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1097/00008571-200411000-00005en_US
dc.identifier.pmid15564881-
dc.identifier.scopuseid_2-s2.0-9244232288en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-9244232288&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume14en_US
dc.identifier.issue11en_US
dc.identifier.spage741en_US
dc.identifier.epage747en_US
dc.identifier.isiWOS:000225476800005-
dc.identifier.scopusauthoridYang, W=23101349500en_US
dc.identifier.scopusauthoridWhite, B=7401649535en_US
dc.identifier.scopusauthoridSpicer, EK=7006867656en_US
dc.identifier.scopusauthoridWeinstein, BL=36885472200en_US
dc.identifier.scopusauthoridHildebrandt, JD=7103100854en_US

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