In two recent papers, polymorphisms located in U2AF homology motif kinase 1 (UHMK1) gene have been associated to schizophrenia. This gene encodes the serine/threonine kinase, kinase interacting with Stathmin, and has been functionally related to RNA metabolism and neurite outgrowth. In this study, we explored the contribution of this gene in schizophrenia susceptibility, using a case–control association study, a mutation screening, a transcription level analysis, and by the investigation of the phosphorylation status of the splicing factor, SF1, in B-lymphoblastoid cell lines of patients and controls. No association was observed in our French cohort, and no amino acid substitution was predicted in the subsample studied for mutation screening. No difference was observed in expression level or in SF1 phosphorylation between patients and controls. Despite a slight difference persisting in the meta-analysis carried out using four European populations, these data suggest, altogether, that UHMK1 does not play a major role in susceptibility to schizophrenia.
aINSERM U 955, IMRB, Psychiatrie Génétique, Hôpital Henri Mondor
bUMR-S 955, Faculté de Médecine, Université Paris-Est
cDépartement de Psychiatrie, Groupe Hospitalier Albert Chenevier-Henri Mondor
dINSERM, Plate-forme de Ressources Biologiques, Centre d'Investigation Clinique 006, AP-HP, Groupe Hospitalier Albert Chenevier-Henri Mondor
eFondation FondaMental, Réseau Thématique de Recherche et de Soins en Santé Mentale, Créteil
fINSERM UMR-S 839
gUniversité Pierre et Marie Curie
hInstitut du Fer à Moulin, Paris
iService de Psychiatrie Adulte, Hôpital Gabriel Montpied, Clermont-Ferrand
jService de Psychiatrie Adulte, Hôpital Sainte Marguerite, Marseille, France
Correspondence to Stéphane Jamain, PhD, INSERM U 955, Psychiatrie Génétique, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, Creteil, F-94000, France Tel: +33 1 4981 3775; fax: +33 1 4981 3588; e-mail: firstname.lastname@example.org
Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.psychgenetics.com).
Received February 24, 2010
Accepted February 7, 2011