Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

Jean Louis Blouin, Beth A. Dombroski, Swapan K. Nath, Virginia K. Lasseter, Paula Wolyniec, Gerald Nestadt, Mary Thornquist, Gail Ullrich, John McGrath, Laura Kasch, Malgorzata Lamacz, Marion G. Thomas, Corinne Gehrig, Uppala Radhakrishna, Sarah E. Snyder, Katherine G. Balk, Karin Neufeld, Karen L. Swartz, Nicola DeMarchi, George N. PapadimitriouDimitris G. Dikeos, Costas N. Stefanis, Aravinda Chakravarti, Barton Childs, David E. Housman, Haig H. Kazazian, Stylianos E. Antonarakis, Ann E Pulver

Research output: Contribution to journalArticlepeer-review

441 Scopus citations


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).

Original languageEnglish (US)
Pages (from-to)70-73
Number of pages4
JournalNature genetics
Issue number1
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics


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