Nuwe bevindings oor die genetiese argitektuur van skisofrenie : die bydrae van studies onder Afrikaners
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Date
Authors
Roos, J.L. (Johannes Louw)
Journal Title
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Volume Title
Publisher
AOSIS Open Journals
Abstract
Die genetiese komponent in die etiologie van skisofrenie word reeds ’n geruime tyd al
aanvaar. Die onderliggende argitektuur van die genetiese risiko bly ’n punt van bespreking.
Vroeë studies oor koppeling en kandidaatverbintenis het grootliks gelei tot onoortuigende
of onbesliste resultate. Meer onlangs het kragtige tegnologieë beskikbaar geword. Dít,
tesame met groot genoeg toetsgroepe en genoomwye panele van genetiese merkers, het dit
moontlik gemaak om sistematiese en agnostiese skandering te doen regdeur die genoom. In
agnostiese skandering word tegnologie aangewend om die probleem op te los, sonder enige
voorveronderstelling oor waar die genoomrelevante allele gevind sal word. Daar word gesoek
na algemene en unieke siektevariante met onderskeidelik klein of groot effek. Die soektog na
variante wat nie ’n groot effek het nie, het beperkte sukses gehad. Aan die ander kant het die
rol van unieke genetiese gebeure, soos kopienommervariasie (KNV) en uniekepunt-mutasies
al hoe belangriker geraak by geenontdekking in geval van skisofrenie. Onlangse navorsing
onder Afrikanerpasiënte met skisofrenie, wat bou op vroeëre bevindings van spontane KNV
by die 22q11 lokus, het lig gewerp op die spontane mutasieparadigma as ’n groot komponent
in die argitektuur van skisofrenie. ’n Oorsig oor onlangse bevindings van hierdie studies word
gegee.
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.
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.
Description
Keywords
Genetiese argitektuur, Skisofrenie, Afrikaners, Genetic architecture, Schizophrenia
Sustainable Development Goals
Citation
Roos, JL 2014, ’Nuwe bevindings oor die genetiese argitektuur van skisofrenie : die bydrae van studies onder Afrikaners’, Suid-Afrikaanse Tydskrif vir Natuurwetenskap en Tegnologie, vol. 33, no. 1, art. 396, pp1-19. http://dx.DOI.org/ 10.4102/satnt.v33i1.396