Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/119436
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Guo, Y. | - |
dc.contributor.author | Lanktree, M. | - |
dc.contributor.author | Taylor, K. | - |
dc.contributor.author | Hakonarson, H. | - |
dc.contributor.author | Lange, L. | - |
dc.contributor.author | Keating, B. | - |
dc.contributor.author | Guo, Y. | - |
dc.contributor.author | Taylor, K. | - |
dc.contributor.author | Fairfax, B. | - |
dc.contributor.author | Elbers, C. | - |
dc.contributor.author | Barnard, J. | - |
dc.contributor.author | Farrall, M. | - |
dc.contributor.author | Padmanabhan, S. | - |
dc.contributor.author | Baumert, J. | - |
dc.contributor.author | Castillo, B. | - |
dc.contributor.author | Gaunt, T. | - |
dc.contributor.author | Gong, Y. | - |
dc.contributor.author | Rajagopalan, R. | - |
dc.contributor.author | Romaine, S. | - |
dc.contributor.author | Kumari, M. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2013 | - |
dc.identifier.citation | Human Molecular Genetics, 2013; 22(1):184-201 | - |
dc.identifier.issn | 0964-6906 | - |
dc.identifier.issn | 1460-2083 | - |
dc.identifier.uri | http://hdl.handle.net/2440/119436 | - |
dc.description.abstract | Recent genetic association studies have made progress in uncovering components of the genetic architecture of the body mass index (BMI). We used the ITMAT-Broad-Candidate Gene Association Resource (CARe) (IBC) array comprising up to 49 320 single nucleotide polymorphisms (SNPs) across ~2100 metabolic and cardiovascular-related loci to genotype up to 108 912 individuals of European ancestry (EA), African-Americans, Hispanics and East Asians, from 46 studies, to provide additional insight into SNPs underpinning BMI. We used a five-phase study design: Phase I focused on meta-analysis of EA studies providing individual level genotype data; Phase II performed a replication of cohorts providing summary level EA data; Phase III meta-analyzed results from the first two phases; associated SNPs from Phase III were used for replication in Phase IV; finally in Phase V, a multi-ethnic meta-analysis of all samples from four ethnicities was performed. At an array-wide significance (P < 2.40E-06), we identify novel BMI associations in loci translocase of outer mitochondrial membrane 40 homolog (yeast) - apolipoprotein E - apolipoprotein C-I (TOMM40-APOE-APOC1) (rs2075650, P = 2.95E-10), sterol regulatory element binding transcription factor 2 (SREBF2, rs5996074, P = 9.43E-07) and neurotrophic tyrosine kinase, receptor, type 2 [NTRK2, a brain-derived neurotrophic factor (BDNF) receptor gene, rs1211166, P = 1.04E-06] in the Phase IV meta-analysis. Of 10 loci with previous evidence for BMI association represented on the IBC array, eight were replicated, with the remaining two showing nominal significance. Conditional analyses revealed two independent BMI-associated signals in BDNF and melanocortin 4 receptor (MC4R) regions. Of the 11 array-wide significant SNPs, three are associated with gene expression levels in both primary B-cells and monocytes; with rs4788099 in SH2B adaptor protein 1 (SH2B1) notably being associated with the expression of multiple genes in cis. These multi-ethnic meta-analyses expand our knowledge of BMI genetics. | - |
dc.description.statementofresponsibility | Yiran Guo, Matthew B. Lanktree, Kira C. Taylor, Hakon Hakonarson, Leslie A. Lange ... Deborah Lawlor ... et al. (The IBC 50K SNP array BMI Consortium) | - |
dc.language.iso | en | - |
dc.publisher | Oxford University Press | - |
dc.rights | © The Author 2012. Published by Oxford University Press. All rights reserved. | - |
dc.source.uri | http://dx.doi.org/10.1093/hmg/dds396 | - |
dc.subject | IBC 50K SNP array BMI Consortium | - |
dc.subject | Humans | - |
dc.subject | Body Mass Index | - |
dc.subject | Cohort Studies | - |
dc.subject | Polymorphism, Single Nucleotide | - |
dc.subject | Ethnic Groups | - |
dc.title | Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1093/hmg/dds396 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 4 Medicine publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.