Is the Urea Cycle Involved in Alzheimer`s Disease?

Journal of Alzheimer’s Disease 21 (2010) 1–3
IOS Press
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Supplementary Data
Is the Urea Cycle Involved in Alzheimer’s
Disease?
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,∗
a
INSERM U744, Lille, France
Institut Pasteur de Lille, Lille, France
c
Université de Lille Nord de France, Lille, France
d
Department of Human Genetics and Alzheimer’s Disease Research Centre, University of Pittsburgh, USA
e
Molecular Psychiatry Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital,
Queensland, Australia
f
CHRU de Lille, Lille, France
g
INSERM U614, Faculté de Médecine-Pharmacie de Rouen, Rouen, France
h
University of Virginia School of Medicine, Charlottesville, VA, USA
i
APHP Laboratoire de Neuropathologie GH Pitié-Salpêtrière, Inserm UMR-S 975, CNRS UMR 7225, UPMC Paris
VI UMR 7225, S-975, Centre de Recherche de l’Institut Cerveau-Moelle, Paris, France
j
INSERM U888; Université Montpellier 1, Hôpital La Colombière, Montpellier, France
k
Greater Manchester Neuroscience Centre, University of Manchester, Manchester, UK
b
Accepted 5 May 2010
∗ Correspondence to: Jean-Charles Lambert, Unité INSERM 744,
Institut Pasteur de Lille, BP 245,1, rue de professeur Calmette, F59019 Lille cedex, France. Tel.: +33 (0)3 20 87 73 91; Fax: +33
(0)3 20 87 78 94; E-mail: [email protected].
ISSN 1387-2877/10/$27.50  2010 – IOS Press and the authors. All rights reserved
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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-SNP
studied in GS, CPS1, ASS, ASL, Arg1, and Arg2 genes. The p value corresponds to the statistical significance of
the differences in genotype distribution of each SNP in the combined test population (France + USA) for men and
women (M+W), men only (M), or women only (W). Significant differences are in bold and SNPs of interest are
marked in grey.
Supplementary Table 2. Arginase 2 expression in AD cases according to rs742869 genotypes. The mean of the amount
of ARG2 mRNA relative to β-actin was calculated for each rs742869 genotype (± standard deviation) in the whole
population, in men only, or women only. Differences were tested using the Kruskal-Wallis test
Genotypes
AA
AG
GG
M+W
Relative expression
0.061 ± 0.035
0.045 ± 0.022
0.046 ± 0.029
p value
0.388
M
Relative expression
0.056 ± 0.028
0.041 ± 0.020
0.026 ± 0.008
p value
0.223
W
Relative expression
0.066 ± 0.045
0.046 ± 0.024
0.065 ± 0.031
p value
0.499
F. Hansmannel et al. / Is the Urea Cycle Involved in Alzheimer’s Disease?
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Supplementary Figure 1. Localization of the 10 tag-SNPs in the Arg2 genes and linkage Disequilibrium (r2 value) between the 9 polymorphic
tag-SNPs of the Arg2 gene in the whole combined “discovery” sample. (No minor allele for rs17104534 were observed in the population).