Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.

ABSTRACT: To elucidate the genetic architecture of familial schizophrenia we combine linkage analysis with studies of fine-level chromosomal variation in families recruited from the Afrikaner population in South Africa. We demonstrate that individually rare inherited copy number variants (CNVs) are more frequent in cases with familial schizophrenia as compared to unaffected controls and affect almost exclusively genic regions. Interestingly, we find that while the prevalence of rare structural variants is similar in familial and sporadic cases, the type of variants is markedly different. In addition, using a high-density linkage scan with a panel of nearly 2,000 markers, we identify a region on chromosome 13q34 that shows genome-wide significant linkage to schizophrenia and show that in the families

SUBMITTER: Xu B 

PROVIDER: S-EPMC2757863 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature