milestone!

In a research paper published today in the top academic journal Nature, the results of two large-scale genetic studies have been published simultaneously, pointing out the genetic roots of schizophrenia

Over a decade, hundreds of researchers have collected DNA sequences from schizophrenia patients and non-patient controls

SCHEMA, an international consortium that Dr.

The genes GRIN2A and GRIA3, for example, encode part of the glutamate receptors that are distributed at the synapse where neurons communicate with each other and receive chemical signals from neighboring neurons

▲ Rare coding variants of 10 genes have a great impact on the risk of schizophrenia (Image source: Reference [1])

Some of these ten genes have also been linked to neurodevelopmental disorders such as epilepsy, developmental delay or intellectual disability in past studies, but the data suggest that different types of mutations in the same gene can lead to a range of different outcomes, Manifested as various psychiatric or neurological disorders

Dr.

Another study, led by the Psychiatric Genomics Consortium (PGC), was larger, covering up to nearly 80,000 people with schizophrenia and more than 240,000 controls, making it the largest genetic study of schizophrenia to date

Using genome-wide association studies (GWAS), the researchers identified common variants associated with schizophrenia at a total of 287 genomic loci, including those identified in the previous study

Despite the large number of variants involved, this analysis also found that these schizophrenia-linked genomic regions are concentrated in brain neurons (both excitatory and inhibitory) and directly affect synaptic structure and other related factors.

The results also showed that abnormal neuronal function affects multiple brain regions, which may explain why schizophrenia has multiple symptoms, including hallucinations, delusions and difficulty thinking clearly

▲ Two methods of whole-genome sequencing identified rare variants (red) and common variants (blue) that affect schizophrenia risk and found that they may often affect the same biological mechanism (Image source: Reference [3] )

Schizophrenia is an extremely complex disorder that can have long-lasting effects on both the patient and the family, and an understanding of its root causes promises to drive more scientists to find better ways to improve the lives of patients

Note: The original text has been deleted

References:

[1] Tarjinder Singh et al.

[2] Vassily Trubetskoy et al.

[3] Conrad O.

[4] Landmark study reveals clearest genetic signals yet for schizophrenia risk.