Περίληψη:
Schizophrenia is a common disorder characterized by psychotic symptoms;
diagnostic criteria have been established(1). Family, twin and adoption
studies suggest that both genetic and environmental factors influence
susceptibility (heritability is approximately 71%; ref. 2), however,
little is known about the aetiology of schizophrenia. Clinical and
family studies suggest aetiological heterogeneity(3-6). Previously, we
reported that regions on chromosomes 22, 3 and 8 may be associated with
susceptibility to schizophrenia(7-8), and collaborations provided some
support for regions on chromosomes 8 and 22 (refs 9-13). We present here
a genome-wide scan for schizophrenia susceptibility loci (SSL) using 452
microsatellite markers on 54 multiplex pedigrees. Non-parametric linkage
(NPL) analysis provided significant evidence for an SSL on chromosome
13q32 (NPL score=4.18; P=0.00002), and suggestive evidence for another
SSL on chromosome 8p21-22 (NPL=3.64; P=0.0001). Parametric linkage
analysis provided additional support for these SSL. Linkage evidence at
chromosome 8 is weaker than that at chromosome 13, so it is more
probable that chromosome 8 may be a false positive linkage. Additional
putative SSL were noted on chromosomes 14q13 (NPL=2.57: P=0.005), 7q11
(NPL=2.50, P=0.007) and 22q11 (NPL=2.42, P=0.009). Verification of
suggestive SSL on chromosomes 13q and 8p was attempted in a follow-up
sample of 54 multiplex pedigrees. This analysis confirmed the SSL in
13q14-q33 (NPL=2.36, P=0.007) and supported the SSL in 8p22-p21
(NPL=1.95, P=0.023).
Συγγραφείς:
Blouin, JL
Dombroski, BA
Nath, SK
Lasseter, VK
Wolyniec,
PS
Nestadt, G
Thornquist, M
Ullrich, G
McGrath, J and
Kasch, L
Lamacz, M
Thomas, MG
Gehrig, C
Radhakrishna, U
and Snyder, SE
Balk, KG
Neufeld, K
Swartz, KL
DeMarchi,
N
Papadimitriou, GN
Dikeos, DG
Stefanis, CN
Chakravarti,
A
Childs, B
Housman, DE
Kazazian, HH
Antonarakis, SE and
Pulver, AE
