Variants in COMT, RASSF1, GPM6A and Paranoid Schizophrenia Risk

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Journal name: The Malaysian Journal of Medical Sciences
Original article title: Association of Variants in COMT, RASSF1 and GPM6A with the Risk of Paranoid Schizophrenia Patients in Prof HB Saanin Psychiatric Hospital, West Sumatra, Indonesia
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Author:

Luluk YUNAINI, Edwina KHAIRAT


The Malaysian Journal of Medical Sciences:

(A peer-reviewed, open-access journal)

Full text available for: Association of Variants in COMT, RASSF1 and GPM6A with the Risk of Paranoid Schizophrenia Patients in Prof HB Saanin Psychiatric Hospital, West Sumatra, Indonesia

Year: 2022 | Doi: 10.21315/mjms2022.29.2.4

Copyright (license): CC BY 4.0


Download the PDF file of the original publication


Summary of article contents:

Introduction

Schizophrenia is a complex psychiatric disorder characterized by a range of symptoms including delusions, hallucinations, and disorganized behavior. The World Health Organization reports that over 21 million people globally experience this disorder, with significant prevalence noted in Indonesia. In this context, genetic factors are believed to play a substantial role in the development of schizophrenia, particularly in relation to neurotransmitter regulation. This study aimed to investigate the association of specific genetic variations in the catechol-O-methyl transferase (COMT), Ras association domain family member 1 (RASSF1), and glycoprotein M6A (GPM6A) genes with paranoid schizophrenia (PS) among patients in West Sumatra, Indonesia.

Significance of GPM6A Variations

One of the critical findings of this research was the significant association of the GPM6A rs13142920 polymorphism with an increased risk of paranoid schizophrenia. Specifically, individuals with the CA and AA genotypes were found to be at a higher risk compared to those with the CC genotype, supporting the notion that this genetic variation could serve as a potential marker for PS. In contrast, no significant associations were found between COMT rs4680 and RASSF1 rs2073499 polymorphisms and the disorder. These results underline the potential impact of low minor allele frequency (MAF) variations in genetic susceptibility to schizophrenia, particularly within the studied population.

Conclusion

The study concludes that the GPM6A rs13142920 polymorphism may act as a candidate genetic marker for paranoid schizophrenia among patients in West Sumatra, while the COMT and RASSF1 gene variants do not show a significant association with the disorder. The findings emphasize the importance of considering ethnic and population-specific factors in genetic studies of schizophrenia, as genetic variations can differ widely across populations. Future research involving larger sample sizes and diverse populations is necessary to validate these findings and further explore the intricate genetic landscape of schizophrenia.

FAQ section (important questions/answers):

What was the aim of the study on schizophrenia in Indonesia?

The study aimed to determine the association of genetic variations in COMT, RASSF1, and GPM6A with the risk of paranoid schizophrenia in patients at Prof HB Saanin Psychiatric Hospital in West Sumatra, Indonesia.

How many patients and controls were analyzed in the research?

A total of 200 individuals were analyzed, including 100 patients with paranoid schizophrenia and 100 healthy controls without a history of schizophrenia or other mental disorders for at least three generations.

What were the significant findings regarding GPM6A polymorphism?

The rs13142920 polymorphism in GPM6A was significantly associated with an increased risk of paranoid schizophrenia, with a p-value of 0.007 and an odds ratio indicating a higher likelihood of schizophrenia in individuals carrying the A allele.

What conclusions were drawn regarding COMT and RASSF1 genetic variants?

The study concluded that the rs4680 polymorphism in COMT and rs2073499 in RASSF1 do not show significant associations with paranoid schizophrenia and may not serve as candidate genetic markers for the disease.

Glossary definitions and references:

Scientific and Ayurvedic Glossary list for “Variants in COMT, RASSF1, GPM6A and Paranoid Schizophrenia Risk”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.

1) Table:
The term 'Table' refers to a structured representation of data, often used in research papers to summarize results, provide comparisons, or illustrate relationships between variables. In the context of this study, tables are crucial for presenting genotype frequencies, statistical results, and the outcomes of analyses in an organized manner for clarity and ease of understanding.

2) Study (Studying):
'Studying' indicates the process of investigating or examining specific phenomena systematically. In the context of genetics and schizophrenia, studying genetic variations, their implications, and associations contributes to understanding the complexity of mental health disorders and advancing scientific and clinical knowledge.

3) Disease:
The term 'Disease' refers to an abnormal condition affecting the body or mind, which in this research is specifically schizophrenia. Understanding the genetic basis of such diseases is pivotal in discovering potential biomarkers, enhancing diagnostic accuracy, and developing targeted treatment strategies to improve the quality of life for affected individuals.

4) Family:
In the context of genetics and schizophrenia, 'Family' can refer to hereditary connections that may contribute to an individual's susceptibility to mental disorders. Family studies often help identify genetic components and environmental factors impacting disease risk, emphasizing the role of familial traits in the overall understanding of psychiatric illnesses.

5) Mutation:
'Mutation' refers to a change in the DNA sequence that can lead to alterations in gene function. In relation to schizophrenia, identifying specific mutations in candidate genes can help establish potential genetic risk factors for developing the disorder, thereby aiding in personalized medicine approaches tailored to individual genetic profiles.

6) Activity:
The term 'Activity' pertains to the biochemical processes and functions played by genes or proteins in the body. Altered gene activity can directly impact neurotransmitter systems implicated in schizophrenia, influencing behavior and cognitive functions, thus highlighting the importance of studying gene activity in understanding mental health disorders.

7) Blood:
'Blood' is a vital fluid that circulates in the body, playing significant roles in nutrient transport, waste removal, and immune response. In genetic research, blood samples are crucial for isolating DNA used in genotype analysis, helping identify associations between genetic markers and the risk of mental disorders.

8) Rules:
'Rules' often refer to established guidelines or protocols that govern research design and methodology. In genetic studies, following specific rules ensures validity, reliability, and ethical considerations in the collection and analysis of data, ultimately enhancing the integrity of the research findings.

9) Cina:
'China' is relevant in this context as it is mentioned in the research, highlighting ethnic and genetic diversity and the geographical variance in schizophrenia studies. Research in different populations, including Chinese individuals, helps elucidate the global landscape of genetic influences on schizophrenia, aiding in comparative analyses.

10) Delusion (Deluded):
'Delusion' refers to a persistent false belief held despite evidence to the contrary, a common symptom in various mental disorders, including schizophrenia. Understanding the genetic underpinnings of such symptoms can offer insights into their biological basis and lead to advancements in treatment and management strategies for affected individuals.

11) Mental disorder:
'Mental disorder' encompasses various psychological conditions that affect an individual's mood, thinking, and behavior. Research into the genetic basis of mental disorders such as schizophrenia is pivotal for developing targeted interventions and improving diagnosis, treatment strategies, and understanding the biological mechanisms underlying these complex conditions.

12) Depression:
'Depression' is a mood disorder characterized by persistent feelings of sadness and loss of interest. It can co-occur with schizophrenia and exacerbate symptoms, making it critical to investigate genetic markers that may influence both conditions. Identifying such connections aids in comprehensive mental health treatment approaches.

13) Bhatnagar:
'Bhatnagar' refers to a researcher whose work may be cited within the context of studies on the genetic factors affecting schizophrenia and related mood disorders. Including relevant researchers allows for a broader understanding of the field and highlights collaborative contributions toward unraveling complex psychiatric conditions.

14) Psychosis:
'Psychosis' describes a severe mental condition characterized by a disconnection from reality, often evident in schizophrenia. Exploring genetic associations with psychosis helps researchers understand its underlying mechanisms, paving the way for more effective diagnosis, targeted treatments, and interventions tailored to symptom management and patient care.

15) Species:
'Species' in genetic research may refer to the different genetic variants observed in various populations or organisms. Understanding species-specific genetic differences helps in comparing genetics across populations, establishing how these differences influence the prevalence and manifestation of disorders like schizophrenia.

16) Amanda (Amamda):
'Amanda' can refer to an individual mentioned in the context of research studies or as an author contributing to the discourse around genetics and mental health. Proper attribution allows recognition of contributions to the field, fostering collaboration and the sharing of knowledge among researchers.

17) Ashmari (Asmari):
'Asmari' refers to an individual, likely a researcher or author, whose work contributes to the understanding of genetic factors involved in schizophrenia and related conditions. Recognizing contributions from diverse individuals helps to enrich the academic and research landscape in mental health studies.

18) Cancer:
'Cancer' can be mentioned in the context of genetic research as a contrasting or related disease where similar genetic mechanisms—including mutations in tumor suppressor genes—are studied. Understanding genetic factors across different diseases can provide insights into shared pathways and potential therapeutic approaches.

19) Gupta:
'Gupta' represents a researcher whose studies or findings may be referenced in the context of genetics and schizophrenia. Recognizing individual contributions fosters collaborative expertise and highlights the shared efforts in advancing research methodologies, findings, and innovations within the field of mental health.

20) Water:
'Water' typically pertains to hydration, which is crucial for overall health and cellular functions. While perhaps less directly tied to genetics, it highlights the importance of environmental factors, including lifestyle choices, in the context of mental health and well-being, influencing conditions such as schizophrenia.

21) Field:
'Field' can refer to the area of study related to genetics, psychiatry, or research. Defining the field is essential for contextualizing investigations and findings, establishing the necessary discourse surrounding genetic contributions to mental health and broadening collaboration amongst scientists and healthcare professionals.

22) Pada:
'Pada' is an Indonesian word that translates to 'in' or 'on' and is often used in research to indicate specificity or context. Understanding local language use in research can reinforce cultural relevance and foster connections between global research communities and local populations.

23) Java:
'Java' refers to an island in Indonesia and can signify the cultural and ethnic context of a study. Including specific geographic locations allows researchers to explore localized genetic variations and their potential associations with mental health disorders, enhancing understanding of how environment and genetics intersect.

24) Peng:
'Peng' might refer to a researcher or author whose work informs the discussion of genetics in mental health disorders. Attributing names in academic literature is crucial for academic integrity and aids in tracking contributions and collaborations within the broader field of psychiatric genetics.

25) Mud:
'Mood' describes the emotional state that can significantly impact mental health conditions, including schizophrenia. Understanding the genetic basis for mood regulation may assist in developing targeted interventions for mood disorders that coexist with or influence schizophrenia, providing a holistic approach to treatment.

26) Male:
'Male' pertains to gender and can be particularly relevant in studies assessing differences in how schizophrenia manifests or is diagnosed in different sexes. Gender differences in genetics, symptom expression, and treatment responses are essential for tailoring effective therapeutic strategies.

27) Discussion:
'Discussion' refers to the section of a research paper where findings are interpreted, and implications are explored. This section is crucial for integrating results into the broader context of existing knowledge, establishing significance, and suggesting future research directions based on the study's conclusions.

28) Medicine:
'Medicine' encompasses the fields of healthcare and scientific study aimed at diagnosing, treating, and preventing diseases. Research in genetics, particularly related to mental disorders, holds potential for revolutionary advancements in personalized medicine, enhancing treatment efficacy based on an individual's genetic makeup.

29) Relative:
'Relative' often refers to the familial connections that may play a role in genetic predispositions to conditions like schizophrenia. Understanding the genetic relationships within families helps in tracing hereditary patterns, guiding assessments of risk among family members and in broader population studies.

30) Quality:
'Quality' refers to the standard of research and methods employed. High-quality research is essential to establish trustworthy and reproducible findings in genetic studies, particularly in sensitive areas like mental health, where accurate data can significantly influence treatment approaches and policy development.

31) Anxiety:
'Anxiety' indicates a common mental health issue that can coexist with schizophrenia and influence its manifestation. Genetic studies exploring the relationship between anxiety and schizophrenia may provide insights into underlying biological mechanisms, enhancing understanding and guiding effective therapeutic interventions.

32) Science (Scientific):
'Science' is the systematic enterprise that builds and organizes knowledge in the form of testable explanations and predictions about the universe. Research on genetics and mental health represents a critical application of scientific inquiry, aiming to unravel the complexities of disorders like schizophrenia.

33) Kusuma:
'Kusuma' likely refers to a researcher or contributor to the findings presented in the study. Recognizing contributions emphasizes the collaborative nature of academic research and fosters an environment for the continued development of knowledge in psychiatric genetics.

34) Filling (Filled):
'Filled' may pertain to the process of completing forms or data collections necessary for research methodologies. Ensuring that all data fields are filled out appropriately is crucial to the integrity and validity of the study results.

35) India:
'India' is relevant in genetics-related research as it represents a unique geographic and ethnic context. The diverse population provides opportunities to investigate genetic variations and their relationships to mental health conditions, particularly schizophrenia, thereby enriching global understanding of genetic epidemiology.

36) Death:
'Death' can refer to the severe consequences associated with untreated or poorly managed mental health conditions. Understanding the genetic risk factors related to schizophrenia can inform prevention strategies, timely interventions, and improve overall mental health care to reduce the risk of adverse outcomes.

37) Raja:
'Raja' translates to 'king' in Indonesian and may refer to authoritative figures or institutions in the context of healthcare or academic research governing studies and findings. Understanding the role of such entities helps contextualize the research landscape in Indonesia.

38) Puti:
'Puti' may refer to an aspect of local language or cultural significance within Indonesia, possibly related to the context or origin of the study. Language plays a crucial role in ensuring that research is culturally appropriate and resonates with local populations.

39) Hand:
'Hand' can refer metaphorically to assistance or involvement in research endeavors. It symbolizes the collaborative effort required in conducting high-quality research, particularly in complex fields like genetics and psychiatry, highlighting the importance of teamwork in scientific discovery.

40) Post:
'Post' typically references the aftermath or results of research activities. In scientific literature, posts often indicate the publication and dissemination of findings, impacting research progression and guiding future inquiries in genetics and mental health domains.

Other Health Sciences Concepts:

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Discover the significance of concepts within the article: ‘Variants in COMT, RASSF1, GPM6A and Paranoid Schizophrenia Risk’. Further sources in the context of Health Sciences might help you critically compare this page with similair documents:

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