Journal Update 2: Genetics of schizophrenia in the South African Xhosa

Schizophrenia is a neurodegenerative disease that often leads to whatever genetic mutations causing it not to passed on to new generations. Thus, it is highly genetically heterogeneous and caused by a variety of de novo mutations. This study aimed to fill a major knowledge gap in schizophrenia research by studying the Xhosa of South Africa, not because they have a high prevalence of schizophrenia, but because most studies have focused on European and Asian populations. Africa has the greatest genetic diversity among modern humans, so new insights could be particularly likely studying African populations. 

Using over 900 control and over 900 individuals with Schizophrenia, this study looked at how specific genes altered the synaptic pathways in different manners, leading to schizophrenia (image below)

Comparing results with a study of Swedish participants, they found that disruptions in synaptic signaling and synaptic plasticity in particular were critical to the development of schizophrenia. This is important as since the higher genetic diversity of African populations leads to more confident gene-phenotype matching, these results can be used to help diagnose and treat schizophrenia in other populations. 


Gulsuner S, Stein DJ, Susser ES, Sibeko G, Pretorius A, Walsh T, Majara L, Mndini MM, Mqulwana SG, Ntola OA, Casadei S. Genetics of schizophrenia in the South African Xhosa. Science. 2020 Jan 31;367(6477):569-73.

Ryan McRae
Science