Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1

Gonçalo R. Abecasis, Rachel A. Burt, Diana Hall, Sylvia Bochum, Kimberly Doheny, S. Laura Lundy, Marie Torrington, J. Louw Roos, Joseph A. Gogos, Maria Karayiorgou

Research output: Contribution to journalArticle

Abstract

We report on our initial genetic linkage studies of schizophrenia in the genetically isolated population of the Afrikaners from South Africa. A 10-cM genomewide scan was performed on 143 small families, 34 of which were informative for linkage. Using both nonparametric and parametric linkage analyses, we obtained evidence for a small number of disease loci on chromosomes 1, 9, and 13. These results suggest that few genes of substantial effect exist for schizophrenia in the Afrikaner population, consistent with our previous genealogical tracing studies. The locus on chromosome 1 reached genomewide significance levels (nonparametric LOD score of 3.30 at marker D1S1612, corresponding to an empirical P value of .012) and represents a novel susceptibility locus for schizophrenia. In addition to providing evidence for linkage for chromosome 1, we also identified a proband with a uniparental disomy (UPD) of the entire chromosome 1. This is the first time a UPD has been described in a patient with schizophrenia, lending further support to involvement of chromosome 1 in schizophrenia susceptibility in the Afrikaners.

Original languageEnglish (US)
Pages (from-to)403-417
Number of pages15
JournalAmerican journal of human genetics
Volume74
Issue number3
DOIs
StatePublished - Jan 1 2004

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Uniparental Disomy
Chromosomes, Human, Pair 1
Schizophrenia
Population
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 9
Genetic Linkage
South Africa
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1. / Abecasis, Gonçalo R.; Burt, Rachel A.; Hall, Diana; Bochum, Sylvia; Doheny, Kimberly; Lundy, S. Laura; Torrington, Marie; Roos, J. Louw; Gogos, Joseph A.; Karayiorgou, Maria.

In: American journal of human genetics, Vol. 74, No. 3, 01.01.2004, p. 403-417.

Research output: Contribution to journalArticle

Abecasis, Gonçalo R. ; Burt, Rachel A. ; Hall, Diana ; Bochum, Sylvia ; Doheny, Kimberly ; Lundy, S. Laura ; Torrington, Marie ; Roos, J. Louw ; Gogos, Joseph A. ; Karayiorgou, Maria. / Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1. In: American journal of human genetics. 2004 ; Vol. 74, No. 3. pp. 403-417.
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