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| HAL: hal-00174517, version 1 |
| PubMed: 15277400 |
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| Diabetes 53, 8 (2004) 2153-7 |
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| SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts. |
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| Delphine Eberlé 1Karine Clément 1, 2, 3, 4, 5 |
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| (2004-08) |
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| Sterol regulatory element-binding protein (SREBP)-1 transcription factors play a central role in energy homeostasis by promoting glycolysis, lipogenesis, and adipogenesis. The sterol regulatory element-binding protein gene (SREBF)-1 is a good candidate gene for obesity and obesity-related metabolic traits such as type 2 diabetes and dyslipidemia. The SREBF-1 molecular screening of 40 unrelated obese patients by PCR/single-strand conformation polymorphism revealed 19 single nucleotide polymorphisms (SNPs). Six SNPs were genotyped for an association study in large French obese and nonobese cohorts. Case-control studies using two independent nonobese cohorts indicated that SNP17 (54G/C, exon 18c) is associated with morbid obesity (odds ratio 1.5, P = 0.006 and P = 0.02, respectively). SNP3 (-150G/A, exon 1a), SNP5 (-36delG, exon 1a), and SNP17 are found in high linkage disequilibrium (D' > 0.8). The haplotype including wild-type alleles of these SNPs (C/G/G/T/C/G, HAP2) is identified as a risk factor for morbid obesity (P = 0.003). In the obese group, SNP3, SNP5, and SNP17 are associated with male-specific hypertriglyceridemia (P = 0.07, P = 0.01, and P = 0.05, respectively). SNP17 is also associated with type 2 diabetes (P = 0.03) and increased prevalence of nephropathy (P = 0.028) in a diabetic cohort. Our results indicate a role of the SREBF-1 gene in genetic predisposition of metabolic diseases such as obesity, type 2 diabetes, and dyslipidemia. |
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| 1: | Déterminants Biologiques et Comportementaux des Obésités |
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Assistance publique - Hôpitaux de Paris (AP-HP) – Hôtel-Dieu – Université Pierre et Marie Curie [UPMC] - Paris VI – EA3502 |
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| 2: | Génétique des maladies multifactorielles (GMM) |
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CNRS : UMR8090 – Université Lille II - Droit et santé |
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| 3: | Service de nutrition |
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Assistance publique - Hôpitaux de Paris (AP-HP) – Hôpital de l'Hôtel-Dieu |
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| 4: | Nutrition et obésité : approches génétique et transcriptomique |
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INSERM : U755 – IFR58 – Université Pierre et Marie Curie [UPMC] - Paris VI |
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| 5: | Département de nutrition |
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Assistance publique - Hôpitaux de Paris (AP-HP) – Hôtel-Dieu |
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| 6: | Géosciences Rennes (GR) |
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CNRS : UMR6118 – INSU – Centre Armoricain de Recherches en Environnement – Université de Rennes 1 |
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| 7: | Centre d'étude des environnements terrestre et planétaires (CETP) |
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CNRS : UMR8639 – INSU – Université de Versailles Saint-Quentin-en-Yvelines |
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| 8: | Pathologies nutritionnelles et métaboliques : obésité et diabète |
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INSERM : U671 – IFR58 – Université Pierre et Marie Curie [UPMC] - Paris VI |
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| 9: | Laboratoire de Probabilités et Modèles Aléatoires (LPMA) |
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CNRS : UMR7599 – Université Pierre et Marie Curie [UPMC] - Paris VI – Université Paris VII - Paris Diderot |
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| 10: | Section of Genomic Medicine |
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Imperial College |
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| 11: | Genome Centre |
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Imperial College London – Hammersmith campus |
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| Subject | : | Life Sciences/Genetics/Human genetics |
| hal-00174517, version 1 | |
| http://hal.archives-ouvertes.fr/hal-00174517 | |
| oai:hal.archives-ouvertes.fr:hal-00174517 | |
| From: Philippe Froguel | |
| Submitted on: Monday, 24 September 2007 15:09:38 | |
| Updated on: Thursday, 11 October 2007 16:23:33 | |
