Titre
Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.
Type
article
Institution
Externe
Périodique
Auteur(s)
Abecasis, G.R.
Auteure/Auteur
Burt, R.A.
Auteure/Auteur
Hall, D.
Auteure/Auteur
Bochum, S.
Auteure/Auteur
Doheny, K.F.
Auteure/Auteur
Lundy, S.L.
Auteure/Auteur
Torrington, M.
Auteure/Auteur
Roos, J.L.
Auteure/Auteur
Gogos, J.A.
Auteure/Auteur
Karayiorgou, M.
Auteure/Auteur
Liens vers les personnes
ISSN
0002-9297
Statut éditorial
Publié
Date de publication
2004
Volume
74
Numéro
3
Première page
403
Dernière page/numéro d’article
417
Langue
anglais
Résumé
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.
PID Serval
serval:BIB_9C3F8042C2D4
PMID
Open Access
Oui
Date de création
2012-02-27T15:26:59.005Z
Date de création dans IRIS
2025-05-20T23:38:29Z