File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: SNPs, microarrays and pooled DNA: Identification of four loci associated with mild mental impairment in a sample of 6000 children

TitleSNPs, microarrays and pooled DNA: Identification of four loci associated with mild mental impairment in a sample of 6000 children
Authors
Issue Date2005
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 2005, v. 14 n. 10, p. 1315-1325 How to Cite?
AbstractMild mental impairment (MMI) represents the low extreme of the quantitative trait of general intelligence and is highly heritable. Quantitative trait loci (QTLs) conferring susceptibility to MMI, as for most complex traits, are likely to be of small effect size. Using a novel approach we call SNP-MaP (SNP Microarrays and Pooling), we have identified four loci associated with MMI. These four loci have been replicated in two SNP-MaP studies and verified by individual genotyping. The two SNP-MaP studies conducted were a case versus control comparison (n = 515 and n = 1028, respectively) and a low versus high general intelligence extremes group comparison (n = 503 and n = 505, respectively). Each of the four groups consisted of five independent 'subpools', with each subpool assayed on a separate microarray. Twelve loci showing the largest significant differences in both SNP-MaP studies were individually genotyped on 6154 children. Of the four loci positively associated with MMI, the minor allele of each conferred the greater risk for MMI. Two of the loci are close to known genes and may be in linkage disequilibrium with them. One of the loci is between the candidate genes KLF7 and CREB1, but given possible long-range effects on expression and the unknown importance of untranslated elements such as micro-RNAs, all four loci deserve attention as candidates. Although each SNP accounts for a small amount of variance, their effects are additive and they can be combined in a 'SNP set' that can be used as a genetic risk index for MMI in behavioral genomic analyses. © The Author 2005. Published by Oxford University Press. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/175930
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorButcher, LMen_US
dc.contributor.authorMeaburn, Een_US
dc.contributor.authorKnight, Jen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorSchalkwyk, LCen_US
dc.contributor.authorCraig, IWen_US
dc.contributor.authorPlomin, Ren_US
dc.date.accessioned2012-11-26T09:02:36Z-
dc.date.available2012-11-26T09:02:36Z-
dc.date.issued2005en_US
dc.identifier.citationHuman Molecular Genetics, 2005, v. 14 n. 10, p. 1315-1325en_US
dc.identifier.issn0964-6906en_US
dc.identifier.urihttp://hdl.handle.net/10722/175930-
dc.description.abstractMild mental impairment (MMI) represents the low extreme of the quantitative trait of general intelligence and is highly heritable. Quantitative trait loci (QTLs) conferring susceptibility to MMI, as for most complex traits, are likely to be of small effect size. Using a novel approach we call SNP-MaP (SNP Microarrays and Pooling), we have identified four loci associated with MMI. These four loci have been replicated in two SNP-MaP studies and verified by individual genotyping. The two SNP-MaP studies conducted were a case versus control comparison (n = 515 and n = 1028, respectively) and a low versus high general intelligence extremes group comparison (n = 503 and n = 505, respectively). Each of the four groups consisted of five independent 'subpools', with each subpool assayed on a separate microarray. Twelve loci showing the largest significant differences in both SNP-MaP studies were individually genotyped on 6154 children. Of the four loci positively associated with MMI, the minor allele of each conferred the greater risk for MMI. Two of the loci are close to known genes and may be in linkage disequilibrium with them. One of the loci is between the candidate genes KLF7 and CREB1, but given possible long-range effects on expression and the unknown importance of untranslated elements such as micro-RNAs, all four loci deserve attention as candidates. Although each SNP accounts for a small amount of variance, their effects are additive and they can be combined in a 'SNP set' that can be used as a genetic risk index for MMI in behavioral genomic analyses. © The Author 2005. Published by Oxford University Press. All rights reserved.en_US
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_US
dc.relation.ispartofHuman Molecular Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshGenetic Markers - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIntellectual Disability - Geneticsen_US
dc.subject.meshOligonucleotide Array Sequence Analysisen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.titleSNPs, microarrays and pooled DNA: Identification of four loci associated with mild mental impairment in a sample of 6000 childrenen_US
dc.typeArticleen_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1093/hmg/ddi142en_US
dc.identifier.pmid15800012-
dc.identifier.scopuseid_2-s2.0-19944398817en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-19944398817&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume14en_US
dc.identifier.issue10en_US
dc.identifier.spage1315en_US
dc.identifier.epage1325en_US
dc.identifier.isiWOS:000229476900009-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridButcher, LM=8901700200en_US
dc.identifier.scopusauthoridMeaburn, E=7801402004en_US
dc.identifier.scopusauthoridKnight, J=13002769800en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridSchalkwyk, LC=7003409002en_US
dc.identifier.scopusauthoridCraig, IW=7102548208en_US
dc.identifier.scopusauthoridPlomin, R=36050187200en_US

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats