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Human Molecular Genetics Advance Access published online on March 5, 2008
Human Molecular Genetics, doi:10.1093/hmg/ddn070
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population

David Meyre1, Morgane Farge1, Cécile Lecoeur1, Christine Proenca1, Emmanuelle Durand1, Frédéric Allegaert1, Jean Tichet2, Michel Marre3, Beverley Balkau4, Jacques Weill5, Jérôme Delplanque1 and Philippe Froguel1,6,*

1 CNRS 8090-Institute of Biology, Pasteur Institute, Lille France 2 Institut inter Régional pour la Santé, Tours, France 3 Department of Diabetology, Bichat Claude Bernard Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France 4 INSERM U780-IFR69, Villejuif, France 5 Pediatric Endocrine Unit, Jeanne de Flandre Hospital, Lille, France 6 Genomic Medicine, Hammersmith Hospital, Imperial College London, United Kingdom.

* Corresponding author: Philippe Froguel, Genomic Medicine, Hammersmith Hospital, Imperial College London, Du Cane Road, London, W12 0NN, United Kingdom Email: p.froguel{at}imperial.ac.uk tel: 44 (0)208 383 3989

Received November 27, 2007; Revised March 4, 2008; Accepted March 4, 2008

Stone et al. previously reported an association between the TBC1D1 gene variant R125W (rs35859249) and severe obesity in women from U.S. pedigrees. We attempted to replicate this result in 9,714 French Caucasian individuals, combining family-based and general population studies. We confirmed an association with familial obesity (defined as body mass index (BMI) ≥ 97th percentile) in women from 1,109 obesity-selected pedigrees (Z-score = 2.70, p=0.008). Analysis of 16 microsatellite markers on chromosome 4 restricted to the 42 pedigrees carrying the TBC1D1 R125W variant allele also revealed a suggestive evidence of linkage with obesity (maximum likelihood binomial LOD of 2.73, p=0.0002) on chromosome 4p14, where resides TBC1D1. In contrast, R125W variant was neither associated with BMI nor with obesity in a large population-based cohort. These results confirm a putative role of TBC1D1 R125W variant in familial obesity predisposition.


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