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http://hdl.handle.net/1942/34615
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DC Field | Value | Language |
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dc.contributor.author | Diels, Sara | - |
dc.contributor.author | Huybreghts, Sander | - |
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 | 2021-08-05T15:03:52Z | - |
dc.date.available | 2021-08-05T15:03:52Z | - |
dc.date.issued | 2020 | - |
dc.date.submitted | 2021-07-08T12:27:31Z | - |
dc.identifier.citation | Molecular Genetics and Metabolism Reports, 25 (Art N° 100656) | - |
dc.identifier.uri | http://hdl.handle.net/1942/34615 | - |
dc.description.abstract | Genome-wide copy number surveys associated chromosome 11q11 with obesity. As this is an olfactory receptor-rich region, we hypothesize that genetic variation in olfactory receptor genes might be implicated in the pathogenesis of obesity. Multiplex Amplicon Quantification analysis was applied to screen for copy number variants at chromosome 11q11 in 627 patients with obesity and 330 healthy-weight individuals. A +/- 80 kb deletion with an internally 1.3 kb retained segment was identified, covering the three olfactory receptor genes OR4C11, OR4P4, and OR4S2. A significant increase in copy number loss(es) was perceived in our patient cohort (MAF = 27%; p = 0.02). Gene expression profiling in metabolic relevant tissues was performed to evaluate the functional impact of the obesity susceptible locus. All three 11q11 genes were present in visceral and subcutaneous adipose tissue while no expression was perceived in the liver. These results support the 'metabolic system' hypothesis and imply that gene disruption of OR4C11, OR4P4, and OR4S2 will negatively influence energy metabolism, ultimately leading to fat accumulation and obesity. Our study thus demonstrates a role for structural variation within olfactory receptor-rich regions in complex diseases and defines the 11q11 deletion as a risk factor for obesity. | - |
dc.language.iso | en | - |
dc.publisher | ELSEVIER | - |
dc.subject.other | Obesity | - |
dc.subject.other | Olfactory receptor | - |
dc.subject.other | Copy number variant | - |
dc.subject.other | Chromosome 11q11 | - |
dc.subject.other | Expression profiling | - |
dc.title | Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition | - |
dc.type | Journal Contribution | - |
dc.identifier.volume | 25 | - |
local.bibliographicCitation.jcat | A1 | - |
local.publisher.place | RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS | - |
local.type.refereed | Refereed | - |
local.type.specified | Article | - |
local.bibliographicCitation.artnr | 100656 | - |
dc.identifier.doi | 10.1016/j.ymgmr.2020.100656 | - |
dc.identifier.isi | WOS:000600655200022 | - |
dc.contributor.orcid | Diels, Sara/0000-0002-4394-4998; Van Hul, Wim/0000-0002-5065-7858 | - |
local.provider.type | wosris | - |
local.uhasselt.international | no | - |
item.contributor | Diels, Sara | - |
item.contributor | Huybreghts, Sander | - |
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.fulltext | With Fulltext | - |
item.accessRights | Open Access | - |
item.fullcitation | Diels, Sara; Huybreghts, Sander; Van Hoorenbeeck, Kim; MASSA, Guy; Verrijken, An; Verhulst, Stijn L.; Van Gaal, Luc F. & Van Hul, Wim (2020) Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition. In: Molecular Genetics and Metabolism Reports, 25 (Art N° 100656). | - |
crisitem.journal.eissn | 2214-4269 | - |
Appears in Collections: | Research publications |
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File | Description | Size | Format | |
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1-s2.0-S2214426920301026-main.pdf | Published version | 1.07 MB | Adobe PDF | View/Open |
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