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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes
Diabetologia, Volume 56, No. 3, Year 2013
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Description
Aims/hypothesis: MODY is believed to be caused by at least 13 different genes. Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families. The p.A71T mutation was shown to abolish the enhancing effect of BLK on insulin content and secretion from pancreatic beta cell lines. Here, we reassessed the contribution of BLK to MODY and tested the effect of BLK-p.A71T on type 2 diabetes risk and variations in related traits. Methods: BLK was sequenced in 64 unelucidated MODY samples. The BLK-p.A71T variant was genotyped in a French type 2 diabetes case-control study including 4,901 cases and 4,280 controls, and in the DESIR (Data from an Epidemiological Study on the Insulin Resistance Syndrome) and SUVIMAX (Supplementation en Vitamines et Mineraux Antioxydants) population-based cohorts (n = 6,905). The variant effects were assessed by logistic and linear regression models. Results: No rare non-synonymous BLK mutations were found in the MODY patients. The BLK p.A71T mutation was present in 52 normoglycaemic individuals, making it very unlikely that this loss-of-function mutation causes highly penetrant MODY. We found a nominal association between this variant and increased type 2 diabetes risk, with an enrichment of the mutation in the obese diabetic patients, although no significant association with BMI was identified. Conclusions/interpretation: No mutation in BLK was found in our MODY cohort. From our findings, the BLK-p.A71T mutation may weakly influence type 2 diabetes risk in the context of obesity; however, this will require further validation. © 2012 Springer-Verlag Berlin Heidelberg.
Authors & Co-Authors
Bonnefond, Amélie
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Yengo, Loic
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Philippe, J.
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Dechaume, A.
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Ezzidi, Intissar
Tunisia, Monastir
Faculté de Pharmacie de Monastir
Vaillant, Emmanuel
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Gjesing, Anette Prior
Denmark, Copenhagen
Novo Nordisk Foundation Center for Basic Metabolic Research
Andersson, Ehm Astrid
Denmark, Copenhagen
Novo Nordisk Foundation Center for Basic Metabolic Research
Czernichow, Seb́astien
France, Versailles
Université de Versailles Saint-quentin-en-yvelines
France, Villejuif
Centre de Recherche en Épidémiologie et Santé Des Populations
Hercberg, Serge
France, Bobigny
Équipe de Recherche en Épidémiologie Nutritionnelle Eren
France, Bobigny
Hopital Avicenne
Hadjadj, Samy
France, Poitiers
Centre Hospitalier Universitaire de Poitiers
France, Paris
Inserm
Charpentier, Guillaume
France, Corbeil-essonnes
Centre Hospitalier Sud-francilien
Lantieri, Olivier
France, F-37521 la Riche
Institut Inter-régional Pour la Santé Irsa
Balkau, Beverley J.
France, Villejuif
Centre de Recherche en Épidémiologie et Santé Des Populations
France, Gif-sur-yvette
Université Paris-saclay
Marre, Michel
France, Paris
Hôpital Bichat-claude-bernard Ap-hp
France, Paris
Inserm
Pedersen, Oluf Borbye
Denmark, Copenhagen
Novo Nordisk Foundation Center for Basic Metabolic Research
Denmark, Herlev
Steno Diabetes Center Copenhagen
Denmark, Aarhus
Fakultetet Health
Hansen, Torben Frøstrup
Denmark, Copenhagen
Novo Nordisk Foundation Center for Basic Metabolic Research
Denmark, Herlev
Steno Diabetes Center Copenhagen
Denmark, Odense
Faculty of Health Sciences, University of Southern Denmark
Froguel, Philippe
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
United Kingdom, London
Hammersmith Hospital
Vaxillaire, Martine
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Statistics
Citations: 34
Authors: 19
Affiliations: 18
Identifiers
Doi:
10.1007/s00125-012-2794-8
ISSN:
0012186X
e-ISSN:
14320428
Research Areas
Cancer
Noncommunicable Diseases
Study Design
Cross Sectional Study
Cohort Study
Case-Control Study