TY - JOUR
T1 - Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21
AU - Blouin, Jean Louis
AU - Dombroski, Beth A.
AU - Nath, Swapan K.
AU - Lasseter, Virginia K.
AU - Wolyniec, Paula
AU - Nestadt, Gerald
AU - Thornquist, Mary
AU - Ullrich, Gail
AU - McGrath, John
AU - Kasch, Laura
AU - Lamacz, Malgorzata
AU - Thomas, Marion G.
AU - Gehrig, Corinne
AU - Radhakrishna, Uppala
AU - Snyder, Sarah E.
AU - Balk, Katherine G.
AU - Neufeld, Karin
AU - Swartz, Karen L.
AU - DeMarchi, Nicola
AU - Papadimitriou, George N.
AU - Dikeos, Dimitris G.
AU - Stefanis, Costas N.
AU - Chakravarti, Aravinda
AU - Childs, Barton
AU - Housman, David E.
AU - Kazazian, Haig H.
AU - Antonarakis, Stylianos E.
AU - Pulver, Ann E
N1 - Funding Information:
This work was supported by funding from Novartis Pharmaceuticals (1995- 1998), grants from the National Institutes of Mental Health (NIMH; 1989- 1995; R01 MH-45588 and 1 R01 35712), the National Institutes of Health (NIH) grant DRR-OPD-GCRC RR00722, the National Alliance for Research on Schizophrenia and Depression and gifts from private foundations and private donors. We wish to thank the patients and their families and the mental health professionals who referred patients and provided information.
PY - 1998
Y1 - 1998
N2 - Schizophrenia is a common disorder characterized by psychotic symptoms; diagnostic criteria have been established. 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. Previously, we reported that regions on chromosomes 22, 3 and 8 may be associated with susceptibility to schizophrenia, 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 SSI 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 51 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).
AB - Schizophrenia is a common disorder characterized by psychotic symptoms; diagnostic criteria have been established. 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. Previously, we reported that regions on chromosomes 22, 3 and 8 may be associated with susceptibility to schizophrenia, 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 SSI 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 51 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).
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U2 - 10.1038/1734
DO - 10.1038/1734
M3 - Article
C2 - 9731535
AN - SCOPUS:17344364477
SN - 1061-4036
VL - 20
SP - 70
EP - 73
JO - Nature genetics
JF - Nature genetics
IS - 1
ER -