Résumé des recherches en génétique réalisées à l’unité INSERM UMR1078 (Brest) pour l’année 2015

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Sur le plan diagnostic

 

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.
Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grützmann R, Mayerle J, Mössner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Férec C, Witt H, Lerch MM, Njølstad PR, Johansson S, Molven A.
Nat Genet. 2015 May;47(5):518-22.

Report of 2 CTRC Intronic Mutations Associated With Acute or Chronic Pancreatitis and Delineation of Their Pathogenic Molecular Mechanisms.
Masson E, Chen JM, Férec C.
Pancreas. 2015 Aug;44(6):999-1001.

Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic Chronic Pancreatitis.
Masson E, Chen JM, Férec C.
Pancreas. 2015 Aug;44(6):996-8.

 

Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study.
Derikx MH, Kovacs P, Scholz M, Masson E, Chen JM, Ruffert C, Lichtner P, Te Morsche RH, Cavestro GM; PanEuropean Working group on Alcoholic Chronic Pancreatitis members and collaborators, Férec C, Drenth JP, Witt H, Rosendahl J.
Gut. 2015 Sep;64(9):1426-33.

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639.
Boulling A, Sato M, Masson E, Génin E, Chen JM, Férec C.

Gut. 2015 Aug 5. pii: gutjnl-2015-310254.

 

Sur le plan thérapeutique