Journal of Alzheimer’s Disease 21 (2010) 1–3 1IOS Press

Supplementary Data

Is the Urea Cycle Involved in Alzheimer’sDisease?

Franck Hansmannela,b,c, Adeline Sillairea,b,c, M. Ilyas Kambohd, Corinne Lendone,Florence Pasquierc,f, Didier Hannequing, Geoffroy Laumeta,b,c, Anais Mouniera,b,c,Anne-Marie Ayrala,b,c, Steven T. DeKoskyh, Jean-Jacques Hauwi, Claudine Berrj, David Mannk,Philippe Amouyela,b,c,f , Dominique Campiong and Jean-Charles Lamberta,b,c,∗

aINSERM U744, Lille, FrancebInstitut Pasteur de Lille, Lille, FrancecUniversite de Lille Nord de France, Lille, FrancedDepartment of Human Genetics and Alzheimer’s Disease Research Centre, University of Pittsburgh, USAeMolecular Psychiatry Laboratory, Queensland Institute ofMedical Research, PO Royal Brisbane Hospital,Queensland, AustraliafCHRU de Lille, Lille, FrancegINSERM U614, Faculte de Medecine-Pharmacie de Rouen, Rouen, FrancehUniversity of Virginia School of Medicine, Charlottesville, VA, USAiAPHP Laboratoire de Neuropathologie GH Pitie-Salpetriere, Inserm UMR-S 975, CNRS UMR 7225, UPMC ParisVI UMR 7225, S-975, Centre de Recherche de l’Institut Cerveau-Moelle, Paris, FrancejINSERM U888; Universite Montpellier 1, Hopital La Colombiere, Montpellier, FrancekGreater Manchester Neuroscience Centre, University of Manchester, Manchester, UK

Accepted 5 May 2010

∗ Correspondence to: Jean-Charles Lambert, Unite INSERM 744,Institut Pasteur de Lille, BP 245,1, rue de professeur Calmette, F-59019 Lille cedex, France. Tel.: +33 (0)3 20 87 73 91; Fax: +33(0)3 20 87 78 94; E-mail: jean-charles.lambert@pasteur-lille.fr.

ISSN 1387-2877/10/$27.50 2010 – IOS Press and the authors. All rights reserved

2 F. Hansmannel et al. / Is the Urea Cycle Involved in Alzheimer’s Disease?

Supplementary Table 1. Differences in the genotypes distributions between cases and controls for each Tag-SNPstudied in GS, CPS1, ASS, ASL, Arg1, and Arg2 genes. The p value corresponds to the statistical significance ofthe differences in genotype distribution of each SNP in the combined test population (France+ USA) for men andwomen (M+W), men only (M), or women only (W). Significant differences are in bold and SNPs of interest aremarked in grey.

Supplementary Table 2. Arginase 2 expression in AD cases according to rs742869 genotypes. The mean of the amountof ARG2 mRNA relative toβ-actin was calculated for each rs742869 genotype (± standard deviation) in the wholepopulation, in men only, or women only. Differences were tested using the Kruskal-Wallis test

Genotypes M+W M WRelative expression p value Relative expression p value Relative expression p value

AA 0.061± 0.035 0.388 0.056± 0.028 0.223 0.066± 0.045 0.499AG 0.045± 0.022 0.041± 0.020 0.046± 0.024GG 0.046± 0.029 0.026± 0.008 0.065± 0.031

F. Hansmannel et al. / Is the Urea Cycle Involved in Alzheimer’s Disease? 3

Supplementary Figure 1. Localization of the 10 tag-SNPs in the Arg2 genes and linkageDisequilibrium (r2 value) between the 9 polymorphictag-SNPs of the Arg2 gene in the whole combined “discovery” sample. (No minor allele for rs17104534 were observed in the population).