Please cite this article as follows: Åberg K, Axelsson E, Saetre P, Jiang L, Wetterberg L, Pettersson U, Lindholm E, Jazin E. 2008. Support for Schizophrenia Susceptibility Locus on Chromosome 2q Detected in a Swedish Isolate Using a Dense Map of Microsatellites and SNPs. Am J Med Genet Part B 147B:1238–1244.
Support for schizophrenia susceptibility locus on chromosome 2q detected in a Swedish isolate using a dense map of microsatellites and SNPs†
Article first published online: 30 APR 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 147B, Issue 7, pages 1238–1244, 5 October 2008
How to Cite
Åberg, K., Axelsson, E., Saetre, P., Jiang, L., Wetterberg, L., Pettersson, U., Lindholm, E. and Jazin, E. (2008), Support for schizophrenia susceptibility locus on chromosome 2q detected in a Swedish isolate using a dense map of microsatellites and SNPs. Am. J. Med. Genet., 147B: 1238–1244. doi: 10.1002/ajmg.b.30762
- Issue published online: 18 SEP 2008
- Article first published online: 30 APR 2008
- Manuscript Accepted: 3 MAR 2008
- Manuscript Received: 12 NOV 2007
- Beijer Foundation
- Swedish Research Council
- Torsten and Ragnar Söderberg's Foundation
- Alice and Knut Wallenberg's Foundation
- Sweden-Scandinavia Foundation; the School of Biology, Uppsala University, Uppsala, Sweden
- Karolinska Institute, Stockholm, Sweden
- NPL analysis;
- haplotype sharing;
- extended pedigrees;
Extended pedigrees are not only very useful to identify disease genes for rare Mendelian conditions, but they may also help unravel the genetics of complex diseases such as schizophrenia. In this study we performed genome-wide multipoint non-parametric linkage (NPL) score calculations using 825 microsatellites and 5,366 single nucleotide polymorphisms (SNPs), respectively, and searched for haplotypes shared by affected individuals, in three multiplex families including 29 genotyped affected individuals which in total contains 49 relative pairs useful for linkage studies. The most consistent results for microsatellites and SNPs were observed on 2q12.3–q14.1 (NPL scores 2.0, empirical P-value 0.009). However, the overall highest NPL score was observed on chromosome 2q33.3 using SNPs (NPL score 2.2, empirical P-value 0.007). Other chromosomal regions were detected on 5q15-q22.1, with microsatellites (NPL scores 1.7, empirical P-value 0.021) and with SNPs (NPL scores 2.0, empirical P-value 0.010) and on 5q23.1 (NPL score 1.9, empirical P-value 0.012) and 8q24.1–q24.2 (NPL score 2.1, empirical P-value 0.009) when using SNPs. The analysis of extended pedigrees allowed the search for haplotypes inherited identical by decent (IBD) by affected individuals. In all regions with NPL score >1.9 we found haplotypes inherited IBD by multiple cases. However, no common haplotypes were found for affected individuals in all families. In conclusion our NPL results support earlier findings suggesting that 2q and possibly 5q and 8q contain susceptibility loci for schizophrenia. Haplotype sharing in families helped to delimit the detected regions that potentially are susceptibility loci for schizophrenia. © 2008 Wiley-Liss, Inc.