Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies
1Key Laboratory of Animal Models and Human Disease Mechanisms of The Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China.
Molecular Psychiatry
|January 4, 2017
Summary
Identifying genetic risk for psychiatric disorders is challenging because most variants are in noncoding DNA. This roadmap integrates multiple methods to pinpoint causative variants and mechanisms, aiding future treatments.
Area of Science:
- Genetics
- Neurobiology
- Functional Genomics
Background:
- Genome-wide association studies (GWAS) identify common genetic variations linked to psychiatric disorder risk.
- Most risk variants reside in noncoding genomic regions, complicating the identification of causal genes and mechanisms.
- Understanding noncoding variants is crucial for elucidating psychiatric illness pathogenesis.
Purpose of the Study:
- To propose a roadmap for characterizing the role of noncoding genetic risk loci in psychiatric disorders.
- To identify molecular mechanisms underlying genetic risk conferred by noncoding loci.
- To pinpoint functional causative variants within these regions.
Main Methods:
- Integration of transcriptomic data, epidemiological data, and bioinformatic approaches.
- Utilizing functional genomics and neurobiology insights.
- Employing in vitro and in vivo experimental validation.
Main Results:
- The proposed roadmap facilitates the characterization of noncoding risk loci in psychiatric disorders.
- It enables the identification of underlying molecular mechanisms and causative variants.
- The approach bridges genetic discoveries with physiological understanding.
Conclusions:
- This integrated roadmap is essential for translating genetic findings into biological mechanisms for psychiatric disorders.
- It will guide the development of novel preventive, therapeutic, and prognostic strategies.
- Understanding noncoding genetic contributions is key to advancing psychiatric medicine.
More Related Videos
Related Concept Videos
01:28Human Genetics
1.8K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.8K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
68
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
68
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
80
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
80
01:27Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
2.3K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
2.3K
01:11Genome-wide Association Studies-GWAS
16.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
16.3K
01:29Biological Causes of Schizophrenia
881
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
881