Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes

Research output: Contribution to journalJournal articleResearchpeer-review

A Bonnefond, L Yengo, J Philippe, A Dechaume, I Ezzidi, E Vaillant, A P Gjesing, E A Andersson, S Czernichow, S Hercberg, S Hadjadj, G Charpentier, O Lantieri, B Balkau, M Marre, O Pedersen, T Hansen, P Froguel, M Vaxillaire

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.
Original languageEnglish
JournalDiabetologia
Volume56
Issue number3
Pages (from-to)492-496
Number of pages5
ISSN0012-186X
DOIs
Publication statusPublished - Mar 2013

ID: 45583318