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Gianfagna-et-al_2013_Understanding the links among neuromedin u gene.PDF 219,47KB
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1000 Titel
  • Understanding the Links among neuromedin U Gene, beta2-adrenoceptor Gene and Bone Health: An Observational Study in European Children
1000 Autor/in
  1. Gianfagna, Francesco |
  2. Cugino, Daniela |
  3. Ahrens, Wolfgang |
  4. Bailey, Mark E.S. |
  5. Bammann, Karin |
  6. Herrmann, Diana |
  7. Koni, Anna Christina |
  8. Kourides, Yiannis |
  9. Marild, Staffan |
  10. Molnar, Dénes |
  11. Moreno, Luis A. |
  12. Pitsiladis, Yannis |
  13. Russo, Paola |
  14. Siani, Alfonso |
  15. Sieri, Sabina |
  16. Sioen, Isabelle |
  17. Veidebaum, Toomas |
  18. Iacoviello, Licia |
1000 Mitwirkende/r
  1. The IDEFICS consortium |
1000 Erscheinungsjahr 2013
1000 LeibnizOpen
1000 Art der Datei
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2013-08-01
1000 Erschienen in
1000 Quellenangabe
  • 8(8): e70632
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2013
1000 Lizenz
1000 Verlagsversion
  • http://dx.doi.org/10.1371/journal.pone.0070632 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3731254/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Neuromedin U, encoded by the NMU gene, is a hypothalamic neuropeptide that regulates both energy metabolism and bone mass. The beta-2 adrenergic receptor, encoded by the ADRB2 gene, mediates several effects of catecholamine hormones and neurotransmitters in bone. We investigated whether NMU single nucleotide polymorphisms (SNPs) and haplotypes, as well as functional ADRB2 SNPs, are associated with bone stiffness in children from the IDEFICS cohort, also evaluating whether NMU and ADRB2 interact to affect this trait. A sample of 2,274 subjects (52.5% boys, age 6.2±1.8 years) from eight European countries, having data on calcaneus bone stiffness index (SI, mean of both feet) and genotyping (NMU gene: rs6827359, rs12500837, rs9999653; ADRB2 gene: rs1042713, rs1042714), was studied. After false discovery rate adjustment, SI was significantly associated with all NMU SNPs. rs6827359 CC homozygotes showed the strongest association (recessive model, Δ = −1.8, p = 0.006). Among the five retrieved haplotypes with frequencies higher than 1% (range 2.0–43.9%), the CCT haplotype (frequency = 39.7%) was associated with lower SI values (dominant model, Δ = −1.0, p = 0.04) as compared to the most prevalent haplotype. A non-significant decrease in SI was observed in in ADRB2 rs1042713 GG homozygotes, while subjects carrying SI-lowering genotypes at both SNPs (frequency = 8.4%) showed much lower SI than non-carriers (Δ = −3.9, p<0.0001; p for interaction = 0.025). The association was more evident in preschool girls, in whom SI showed a curvilinear trend across ages. In subgroup analyses, rs9999653 CC NMU or both GG ADRB2 genotypes were associated with either lower serum calcium or β-CrossLaps levels (p = 0.01). This study in European children shows, for the first time in humans, a role for NMU gene through interaction with ADRB2 gene in bone strength regulation, more evident in preschool girls.
1000 Sacherschließung
lokal Haplotypes
lokal Variant genotypes
lokal Genome-wide association studies
lokal Bone development
lokal Alleles
lokal Stiffness
lokal Children
lokal Bone and mineral metabolism
1000 Fachgruppe
  1. Medizin |
  2. Gesundheitswesen |
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://frl.publisso.de/adhoc/creator/R2lhbmZhZ25hLCBGcmFuY2VzY28=|https://frl.publisso.de/adhoc/creator/Q3VnaW5vLCBEYW5pZWxh|http://orcid.org/0000-0003-3777-570X|https://frl.publisso.de/adhoc/creator/QmFpbGV5LCBNYXJrIEUuUy4=|http://orcid.org/0000-0002-5623-8160|https://frl.publisso.de/adhoc/creator/SGVycm1hbm4sIERpYW5h|https://frl.publisso.de/adhoc/creator/S29uaSwgQW5uYSBDaHJpc3RpbmE=|https://frl.publisso.de/adhoc/creator/S291cmlkZXMsIFlpYW5uaXM=|https://frl.publisso.de/adhoc/creator/TWFyaWxkLCBTdGFmZmFu|https://frl.publisso.de/adhoc/creator/TW9sbmFyLCBEw6luZXM=|https://frl.publisso.de/adhoc/creator/TW9yZW5vLCBMdWlzIEEu|https://frl.publisso.de/adhoc/creator/UGl0c2lsYWRpcywgWWFubmlz|https://frl.publisso.de/adhoc/creator/UnVzc28sIFBhb2xh|https://frl.publisso.de/adhoc/creator/U2lhbmksIEFsZm9uc28=|https://frl.publisso.de/adhoc/creator/U2llcmksIFNhYmluYQ==|https://frl.publisso.de/adhoc/creator/U2lvZW4sIElzYWJlbGxl|https://frl.publisso.de/adhoc/creator/VmVpZGViYXVtLCBUb29tYXM=|https://frl.publisso.de/adhoc/creator/SWFjb3ZpZWxsbywgTGljaWE=|https://frl.publisso.de/adhoc/corporateBody/VGhlIElERUZJQ1MgY29uc29ydGl1bQ==
1000 Label
1000 Förderer
  1. European Community |
1000 Fördernummer
  1. 016181 (FOOD)
1000 Förderprogramm
  1. Sixth Framework Programme
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer European Community |
    1000 Förderprogramm Sixth Framework Programme
    1000 Fördernummer 016181 (FOOD)
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6407266.rdf
1000 Erstellt am 2018-03-23T12:03:52.572+0100
1000 Erstellt von 266
1000 beschreibt frl:6407266
1000 Bearbeitet von 122
1000 Zuletzt bearbeitet Thu Jan 30 23:59:48 CET 2020
1000 Objekt bearb. Mon Mar 26 10:03:40 CEST 2018
1000 Vgl. frl:6407266
1000 Oai Id
  1. oai:frl.publisso.de:frl:6407266 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
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