Soumya Shraddhya Paul, Amity University, Noida
Schizophrenia (SCZ) is a severe mental illness that affects 0.5–1% of the global population. Positive (hallucinations and delusions), negative (anhedonia, alogia, and avolition), and cognitive deficits are the major symptoms of SCZ (impaired working memory and executive function). SCZ exerts a significant economic burden on society and poses a danger to world health because of its high mortality and significant morbidity. SCZ’s pathophysiology is still mostly unclear.
Despite this, research suggests that SCZ has a significant hereditary component. SCZ has a heritability of about 0.80, suggesting that inherited variations play a substantial influence on the disease. Great attempts have been undertaken to deconstruct the genetic basis of SCZ, and substantial progress has been made. SCZ has been linked to low-frequency variants such as structural variants, copy number variations, uncommon, and de novo mutations. Furthermore, GWASs have discovered over 200 risk loci with strong correlations to SCZ.
Brief about the recent study:
A study conducted by Jiewei Liu along with other researchers ( Liu et al.) showed that Genome-wide association studies (GWASs) have discovered more than 200 risk loci for schizophrenia. However, the bulk of risk loci were discovered in European ancestry (EUR) populations, which might mean that key biological insights were missed. Five GWASs in non-European populations are essential.
The researcher used a GWAS in the Han Chinese population to find new schizophrenia risk loci (3493 cases and 4709 controls). They combined the data with earlier GWASs conducted in EAS and EUR to produce a large-scale meta-analysis (with a total of 143,438 individuals). The study also included heritability partitioning, enrichment of schizophrenia correlations in tissues and cell types, transcriptome-wide association study (TWAS), expression quantitative trait loci (eQTL), and differential expression analysis.
Findings of the study:
The researchers found two new schizophrenia risk loci in the Han Chinese population, including correlations in PES1 (rs57016637, P = 2.33 1011) and SHISA9 (rs7192086, P = 4.92 10-08). A fixed-effect meta-analysis utilising summary data from EAS and EUR reveals 15 new genome-wide significant risk loci (a total of 143,438 individuals). The use of linkage disequilibrium score regression (LDSC) to partition heredity indicates that schizophrenia heritability is significantly enriched in conserved genomic regions, promoters, and enhancers. In short, it was seen that Schizophrenia is a heritable disease.
Significance of the study:
This research reveals 17 new schizophrenia risk loci and emphasizes the need of performing genetic studies in various groups. These results not only shed light on the genetic origins of schizophrenia but also help to define the disease’s pathophysiology and identify novel treatment targets.
Also read: White-tailed deer in Michigan found to contain Covid antibodies!
References:
- Liu, J., Li, S., Li, X., Li, W., Yang, Y., Guo, S., Lv, L., Xiao, X., Yao, Y.-G., Guan, F., Li, M., & Luo, X.-J. (2021). Genome-wide association study followed by trans-ancestry meta-analysis identify 17 new risk loci for schizophrenia. BMC Medicine, 19(1), 177. https://doi.org/10.1186/s12916-021-02039-9
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Author info:
Soumya Shraddhya Paul is an undergrad biotechnology student who worked in building 3D prosthetics in Base Hospital Delhi Cantt. She holds a key interest in nutraceuticals and enzymology.
Publications:
- https://bioxone.in/news/worldnews/understanding-b-cell-genomics-to-fight-against-covid-19/
- https://bioxone.in/news/worldnews/the-current-ebola-epidemic-comes-to-an-end/
- https://bioxone.in/news/worldnews/an-improved-highly-resistant-tuberculosis-treatment-strategy/
- https://bioxone.in/news/worldnews/exosomes-role-in-lung-cancer-metastasis/
- https://bioxone.in/news/worldnews/depressive-disorders-and-pharmacotherapy-new-info-revealed/
Social Media Info: www.linkedin.com/in/soumya-shraddhya-paul-858229203
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