Open AccessLatest findings in the genetic architecture of schizophrenia: The contribution of genetic studies among Afrikaners
Author(s) -
Johannes Roos
Publication year - 2014
Publication title -
suid-afrikaanse tydskrif vir natuurwetenskap en tegnologie/die suid-afrikaanse tydskrif vir natuurwetenskap en tegnologie
Language(s) - English
Resource type - Journals
eISSN - 2222-4173
pISSN - 0254-3486
DOI - 10.4102/satnt.v33i1.396
Subject(s) - genetic architecture , schizophrenia (object oriented programming) , copy number variation , genetics , biology , locus (genetics) , genome wide association study , genetic association , disease , candidate gene , genome , gene , computational biology , medicine , psychiatry , quantitative trait locus , single nucleotide polymorphism , genotype , pathology
A genetic component of schizophrenia has been acknowledged for a long time. The underlying architecture of the genetic risk remains a contentious issue. Early linkage and candidate association studies led to largely inconclusive results. More recently powerful technologies became available. This aspect coupled with samples of sufficient sizes, and genome-wide panels of genetic markers facilitated systematic and agnostic scans throughout the genome for either common or rare disease risk variants of small or large effect size, respectively. Although the former had limited success, the role of rare genetic events, such as copy-number variants (CNVs) or rare point mutations, has become increasingly important in gene discovery for schizophrenia. Recent research done among Afrikaner patients with schizophrenia, building upon earlier findings of de novo recurrent CNVs at the 22q11.2 locus, has highlighted a de novo mutational paradigm as a major component of the genetic architecture of schizophrenia. Recent progress in this regard will be reviewed.