Genetics of schizophrenia in the South African Xhosa.
Science
; 367(6477): 569-573, 2020 01 31.
Article
em En
| MEDLINE
| ID: mdl-32001654
ABSTRACT
Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esquizofrenia
/
Transmissão Sináptica
Limite:
Female
/
Humans
/
Male
País como assunto:
Africa
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article