Journal article
Novel association approach for variable number tandem repeats (vntrs) identifies dock5 as a susceptibility gene for severe obesity
JS El-Sayed Moustafa, H Eleftherohorinou, AJ De Smith, JC Andersson-Assarsson, A Couto Alves, E Hadjigeorgiou, RG Walters, JE Asher, L Bottolo, JL Buxton, R Sladek, D Meyre, C Dina, S Visvikis-Siest, P Jacobson, L Sjöström, LMS Carlsson, A Walley, M Falchi, P Froguel Show all
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2012
DOI: 10.1093/hmg/dds187
Abstract
Variable number tandem repeats (VNTRs) constitute a relatively under-examined class of genomic variants in the context of complex disease because of their sequence complexity and the challenges in assaying them. Recent large-scale genome-wide copy number variant mapping and association efforts have highlighted the need for improved methodology for association studies using these complex polymorphisms. Here we describe the in-depth investigation of a complex region on chromosome 8p21.2 encompassing the dedicator of cytokinesis 5 (DOCK5) gene. The region includes two VNTRs of complex sequence composition which flank a common 3975 bp deletion, all three of which were genotyped by polymerase cha..
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Awarded by European Commission
Funding Acknowledgements
J.S.El-S.M. is supported by an Imperial College Department of Medicine PhD studentship. J.L.B. is supported by Wellcome Trust fellowship grant number WT088431MA. A. C. A. and L.J.M.C. acknowledge support from the European Commission, Framework 7, grant number 223367. L. B. acknowledges the support of the Wellcome Trust Value-in-People award. A. I. F. B. acknowledges support from Diabetes UK. The STANISLAS Family Study was supported by the Caisse Nationale d'Assurance Maladies des Travailleurs Salaries (CNAM), the Institut National de la Sante et de la Recherche Medicale (INSERM), the Region Lorraine, the Communaute Urbaine du Grand Nancy, the Universite de Lorraine and the BioIntelligence project. This work was supported by grants from the Wellcome Trust (grant ref. 079534/z/06/z), Swedish Research Council (K2010-55X-11285-13), the Swedish Foundation for Strategic Research to Sahlgrenska Center for Cardiovascular and Metabolic Research, the Swedish Diabetes Foundation and the Swedish federal government under the LUA/ALF agreement.