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Diabetes 55:2876-2882, 2006
DOI: 10.2337/db06-0337
© 2006 by the American Diabetes Association
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Bardet-Biedl Syndrome Gene Variants Are Associated With Both Childhood and Adult Common Obesity in French Caucasians

Michael Benzinou1, Andrew Walley1, Stephan Lobbens2, Marie-Aline Charles3, Béatrice Jouret4, Frédéric Fumeron5, Beverley Balkau3, David Meyre2, and Philippe Froguel1,2

1 Section of Genomic Medicine, Imperial College London, Hammersmith Hospital, London, U.K
2 Centre National de Recherche (CNRS) Unité Mixte de Recherche (UMR) 8090, Institute of Biology, Pasteur Institute, Lille, France
3 Institut National de la Santé et de al Recherche Médicale (INSERM), U258-IFR69, Paris South Faculty of Medicine, Villejuif, France
4 INSERM, U563, Children’s Hospital, Toulouse, France
5 INSERM, U695, Xavier Bichat Faculty of Medicine, Paris, France

Address correspondence and reprint requests to Prof. Philippe Froguel, Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital, Du Cane Road, London, W12 0NN, U.K. E-mail: p.froguel{at}imperial.ac.uk

Abbreviations: BBS, Bardet-Biedl syndrome; MAF, minor allele frequency; SNP, single nucleotide polymorphism; TDT, transmission disequilibrium test

Bardet-Biedl syndrome (BBS) is a rare developmental disorder with the cardinal features of abdominal obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, hypertension, and diabetes. BBS is genetically heterogeneous, with nine genes identified to date and evidence for additional loci. In this study, we performed mutation analysis of the coding and conserved regions of BBS1, BBS2, BBS4, and BBS6 in 48 French Caucasian individuals. Among the 36 variants identified, 12 were selected and genotyped in 1,943 French-Caucasian case subjects and 1,299 French-Caucasian nonobese nondiabetic control subjects. Variants in BBS2, BBS4, and BBS6 showed evidence of association with common obesity in an age-dependent manner, the BBS2 single nucleotide polymorphism (SNP) being associated with common adult obesity (P = 0.0005) and the BBS4 and BBS6 SNPs being associated with common early-onset childhood obesity (P = 0.0003) and common adult morbid obesity (0.0003 < P < 0.007). The association of the BBS4 rs7178130 variant was found to be supported by transmission disequilibrium testing (P = 0.006). The BBS6 variants also showed nominal evidence of association with quantitative components of the metabolic syndrome (e.g., dyslipidemia, hyperglycemia), a complication previously described in BBS patients. In summary, our preliminary data suggest that variations at BBS genes are associated with risk of common obesity.


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Copyright © 2006 by the American Diabetes Association.