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DC Field | Value | Language |
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dc.contributor.author | Aerts, Evi | - |
dc.contributor.author | Beckers, Sigri | - |
dc.contributor.author | Zegers, Doreen | - |
dc.contributor.author | Van Hoorenbeeck, Kim | - |
dc.contributor.author | MASSA, Guy | - |
dc.contributor.author | Verrijken, An | - |
dc.contributor.author | Verhulst, Stijn L. | - |
dc.contributor.author | Van Gaal, Luc F. | - |
dc.contributor.author | Van Hul, Wim | - |
dc.date.accessioned | 2018-07-31T11:04:12Z | - |
dc.date.available | 2018-07-31T11:04:12Z | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | OBESITY, 24(4), p. 970-976 | - |
dc.identifier.issn | 1930-7381 | - |
dc.identifier.uri | http://hdl.handle.net/1942/26517 | - |
dc.description.abstract | ObjectiveGenome-wide copy number variation (CNV) analyses have associated the 10q11.22 CNV with obesity. As the NPY4R gene is the most interesting candidate gene in this region, it was hypothesized that both genetic and structural variation in NPY4R might be implicated in the pathogenesis of obesity. MethodsIn the first part of this study, 326 children and adolescents with obesity and 298 healthy lean individuals were screened for CNV in the NPY4R-containing chr.10q11.22 region. In the second part of this study, a mutation screen for variants in the NPY4R coding region was performed in 356 children and adolescents with obesity and 337 healthy lean adults. ResultsOur CNV analysis demonstrated a significantly higher frequency of NPY4R containing 10q11.22 CNV loss in the patient population (P=0.0003), while CNV gain in this region was more prevalent in the control population (P=0.031). Mutation analysis resulted in the identification of 15 rare non-synonymous heterozygous variants. For two variants that could only be identified in the patient population, receptor dysfunction and thus a pathogenic effect were demonstrated. ConclusionsIn conclusion, these data support an essential role for genetic and structural variation within the NPY4R gene in the pathogenesis of obesity. | - |
dc.description.sponsorship | This study was supported by an Interuniversity Attraction Pole Project (Phase VII project 43, BELSPO) and a TOP project from the University of Antwerp. EA holds a PhD Grant for Strategic Basic Research from the Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT-Vlaanderen). | - |
dc.language.iso | en | - |
dc.rights | (C) 2016 The Obesity Society | - |
dc.title | CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity | - |
dc.type | Journal Contribution | - |
dc.identifier.epage | 976 | - |
dc.identifier.issue | 4 | - |
dc.identifier.spage | 970 | - |
dc.identifier.volume | 24 | - |
local.bibliographicCitation.jcat | A1 | - |
local.type.refereed | Refereed | - |
local.type.specified | Article | - |
local.class | dsPublValOverrule/internal_author_not_expected | - |
local.class | IncludeIn-ExcludeFrom-List/ExcludeFromFRIS | - |
dc.identifier.doi | 10.1002/oby.21435 | - |
dc.identifier.isi | 000373613200030 | - |
item.accessRights | Restricted Access | - |
item.contributor | Aerts, Evi | - |
item.contributor | Beckers, Sigri | - |
item.contributor | Zegers, Doreen | - |
item.contributor | Van Hoorenbeeck, Kim | - |
item.contributor | MASSA, Guy | - |
item.contributor | Verrijken, An | - |
item.contributor | Verhulst, Stijn L. | - |
item.contributor | Van Gaal, Luc F. | - |
item.contributor | Van Hul, Wim | - |
item.fullcitation | Aerts, Evi; Beckers, Sigri; Zegers, Doreen; Van Hoorenbeeck, Kim; MASSA, Guy; Verrijken, An; Verhulst, Stijn L.; Van Gaal, Luc F. & Van Hul, Wim (2016) CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity. In: OBESITY, 24(4), p. 970-976. | - |
item.fulltext | With Fulltext | - |
crisitem.journal.issn | 1930-7381 | - |
crisitem.journal.eissn | 1930-739X | - |
Appears in Collections: | Research publications |
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File | Description | Size | Format | |
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Aerts_et_al-2016-Obesity.pdf Restricted Access | Published version | 320.02 kB | Adobe PDF | View/Open Request a copy |
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