Show simple item record

dc.contributor.authorEmilsson, Valur
dc.contributor.authorHinney, Anke
dc.contributor.authorHeid, Iris M
dc.contributor.authorZhu, Xiaofeng
dc.contributor.authorThorleifsson, Gudmar
dc.contributor.authorGunnarsdottir, Steinunn
dc.contributor.authorWalters, G. Bragi
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorKong, Augustine
dc.contributor.authorGulcher, Jeffrey
dc.contributor.authorNguyen, Thuy Trang
dc.contributor.authorScherag, André
dc.contributor.authorPfeufer, Arne
dc.contributor.authorMeitinger, Thomas
dc.contributor.authorBrönner, Günter
dc.contributor.authorRief, Winfried
dc.contributor.authorSoto-Quiros, Manuel E
dc.contributor.authorAvila, Lydiana
dc.contributor.authorGroop, Leif
dc.contributor.authorTuomi, Tiinamaija
dc.contributor.authorIsomaa, Bo
dc.contributor.authorBengtsson, Kristina
dc.contributor.authorButler, Johannah L
dc.contributor.authorVollmert, Caren
dc.contributor.authorCeledón, Juan C
dc.contributor.authorWichmann, H. Erich
dc.contributor.authorHebebrand, Johannes
dc.contributor.authorStefansson, Kari
dc.contributor.authorAbecasis, Gonçalo
dc.contributor.authorLyon, Helen N
dc.contributor.authorSu, Jessica Ann Lasky
dc.contributor.authorKlanderman, Barbara Jordan
dc.contributor.authorRaby, Benjamin Alexander
dc.contributor.authorSilverman, Edwin Kepner
dc.contributor.authorWeiss, Scott Tillman
dc.contributor.authorLaird, Nan M.
dc.contributor.authorDing, Xiao
dc.contributor.authorCooper, Richard S
dc.contributor.authorFox, Caroline
dc.contributor.authorO'Donnell, Christopher Joseph
dc.contributor.authorLange, Christoph
dc.contributor.authorHirschhorn, Joel Naom
dc.date.accessioned2012-01-03T22:42:16Z
dc.date.issued2007
dc.identifier.citationLyon, Helen N., Valur Emilsson, Anke Hinney, Iris M. Heid, Jessica Lasky-Su, Xiaofeng Zhu, Gudmar Thorleifsson, et al. 2007. The Association of a SNP Upstream of INSIG2 with Body Mass Index is Reproduced in Several but Not All Cohorts. PLoS Genetics 3(4): e61.en_US
dc.identifier.issn1553-7390en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:6177593
dc.description.abstractA SNP upstream of the INSIG2 gene, rs7566605, was recently found to be associated with obesity as measured by body mass index (BMI) by Herbert and colleagues. The association between increased BMI and homozygosity for the minor allele was first observed in data from a genome-wide association scan of 86,604 SNPs in 923 related individuals from the Framingham Heart Study offspring cohort. The association was reproduced in four additional cohorts, but was not seen in a fifth cohort. To further assess the general reproducibility of this association, we genotyped rs7566605 in nine large cohorts from eight populations across multiple ethnicities (total n = 16,969). We tested this variant for association with BMI in each sample under a recessive model using family-based, population-based, and case-control designs. We observed a significant (p < 0.05) association in five cohorts but saw no association in three other cohorts. There was variability in the strength of association evidence across examination cycles in longitudinal data from unrelated individuals in the Framingham Heart Study Offspring cohort. A combined analysis revealed significant independent validation of this association in both unrelated (p = 0.046) and family-based (p = 0.004) samples. The estimated risk conferred by this allele is small, and could easily be masked by small sample size, population stratification, or other confounders. These validation studies suggest that the original association is less likely to be spurious, but the failure to observe an association in every data set suggests that the effect of SNP rs7566605 on BMI may be heterogeneous across population samples.en_US
dc.language.isoen_USen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.isversionofdoi:10.1371/journal.pgen.0030061en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1857727/pdf/en_US
dash.licenseLAA
dc.subjectdiabetes and endocrinologyen_US
dc.subjectgenetics and genomicsen_US
dc.subjectpublic health and epidemiologyen_US
dc.subjecthomo (human)en_US
dc.titleThe Association of a SNP Upstream of INSIG2 with Body Mass Index is Reproduced in Several but Not All Cohortsen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalPLoS Geneticsen_US
dash.depositing.authorLyon, Helen N
dc.date.available2012-01-03T22:42:16Z
dash.affiliation.otherHMS^Pediatrics-Children's Hospitalen_US
dash.affiliation.otherHMS^Medicine-Brigham and Women's Hospitalen_US
dash.affiliation.otherHMS^Medicine-Brigham and Women's Hospitalen_US
dash.affiliation.otherHMS^Medicine-Brigham and Women's Hospitalen_US
dash.affiliation.otherHMS^Medicine-Brigham and Women's Hospitalen_US
dash.affiliation.otherSPH^Molecular+Integrative Physiological Sci Progen_US
dash.affiliation.otherSPH^Biostatisticsen_US
dash.affiliation.otherHMS^Medicine-Brigham and Women's Hospitalen_US
dash.affiliation.otherSPH^Biostatisticsen_US
dash.affiliation.otherHMS^Geneticsen_US
dc.identifier.doi10.1371/journal.pgen.0030061*
dash.authorsorderedfalse
dash.contributor.affiliatedLyon, Helen N.
dash.contributor.affiliatedO'Donnell, Christopher
dash.contributor.affiliatedLaird, Nan
dash.contributor.affiliatedLange, Christoph
dash.contributor.affiliatedSilverman, Edwin
dash.contributor.affiliatedFox, Caroline
dash.contributor.affiliatedKlanderman, Barbara
dash.contributor.affiliatedRaby, Benjamin
dash.contributor.affiliatedSu, Jessica
dash.contributor.affiliatedWeiss, Scott
dash.contributor.affiliatedHirschhorn, Joel


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record