scholarly journals Perspective and a brief overview of genome-wide association studies in moderate to severe asthma

2021 ◽  
Vol 15 (2) ◽  
pp. 52-61
Author(s):  
Md Monirul Hoque
Keyword(s):  
Severe Asthma ◽  
Association Studies ◽  
Chronic Respiratory Disease ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genetic Studies ◽  
The Past ◽  
Genome Wide ◽  
Genomic Studies ◽  
The Individual

Asthma is a common chronic respiratory disease that shares phenotypic heritability and shows clusters of symptoms among the relatives. A large number of studies have been conducted to examine the genetic susceptibility of asthma over the past three decades. In the last decade, genome-wide association studies (GWAS) have readdressed the perspective of viewing asthma and have identified some novel genes associated with the susceptibility of asthma. However, few genetic studies have been conducted focusing the moderate to severe asthma, and the molecular targets explain a small proportion of asthma heritability. This review focuses on the principal findings of the genomic studies investigating the genome-wide association of moderate to severe asthma and how it is transitioning the phenotype-based approach towards the fundamental genomic studies. It further illustrates the integrative perspectives aimed towards the translation of the findings in precision medicine. Therefore, a better understanding of asthma pathogenesis would focus the individual at the center of asthma care. Ibrahim Med. Coll. J. 2021; 15(2): 52-61

Vasculitis: Decade in Review

2018 ◽  
Vol 15 (1) ◽  
pp. 14-22 ◽  
Author(s):  
Selcan Demir ◽  
Hafize Emine Sönmez ◽  
Seza Özen
Keyword(s):  
Targeted Therapies ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genetic Studies ◽  
The Past ◽  
Genome Wide ◽  
New Perspective

Background: In the last decade, we have come to better understand and manage the vasculitides. The classification of vasculitides has been revised. Genome- wide association studies and linkage analyses have been undertaken in hope of better understanding the pathogenesis of vasculitides. Comprehensive genetic studies have highlighted new pathways that may guide us in more targeted therapies. Description of the monogenic forms of vasculitis, such as deficiency of adenosine deaminase type 2 (DADA2), Haploinsufficiency of A20 (HA20), have introduced a new perspective to vasculopathies, and introduced alternative treatments for these diseases. Conclusion: In this review, the important discoveries in pathogenesis and consensus treatment recommendations from the past decade will be summarized.

scholarly journals Mixture model-based association analysis with case-control data in genome wide association studies

2017 ◽  
Vol 16 (3) ◽  
Author(s):  
Fadhaa Ali ◽  
Jian Zhang
Keyword(s):  
Mixture Model ◽  
Multiple Testing ◽  
Hypothesis Test ◽  
Association Studies ◽  
Real Data ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Model Based ◽  
Genome Wide ◽  
The Individual

AbstractMultilocus haplotype analysis of candidate variants with genome wide association studies (GWAS) data may provide evidence of association with disease, even when the individual loci themselves do not. Unfortunately, when a large number of candidate variants are investigated, identifying risk haplotypes can be very difficult. To meet the challenge, a number of approaches have been put forward in recent years. However, most of them are not directly linked to the disease-penetrances of haplotypes and thus may not be efficient. To fill this gap, we propose a mixture model-based approach for detecting risk haplotypes. Under the mixture model, haplotypes are clustered directly according to their estimated disease penetrances. A theoretical justification of the above model is provided. Furthermore, we introduce a hypothesis test for haplotype inheritance patterns which underpin this model. The performance of the proposed approach is evaluated by simulations and real data analysis. The results show that the proposed approach outperforms an existing multiple testing method.

Two-Stage Procedures for the Identification of Gene × Environment and Gene × Gene Interactions in Genome-Wide Association Studies

2016 ◽  
Author(s):  
Charles Kooperberg ◽  
James Y. Dai ◽  
Li Hsu
Keyword(s):  
Association Studies ◽  
Gene Interaction ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Two Stage ◽  
Genetic Studies ◽  
Gene Environment ◽  
Genome Wide ◽  
Sequencing Studies ◽  
Generation Sequencing

Genome-wide association studies and next generation sequencing studies offer us an unprecedented opportunity to study the genetic etiology of diseases and other traits. Over the last few years, many replicated associations between SNPs and traits have been published. It is of particular interest to identify how genes may interact with environmental factors and other genes. In this chapter, we show that a two-stage approach, where in the first stage SNPs are screened for their potential to be involved in interactions, and interactions are then tested only among SNPs that pass the screening can greatly enhance power for detecting gene-environment and gene-gene interaction in large genetic studies compared to the tests without screening.

scholarly journals Dissecting the phenotype in genome-wide association studies of psychiatric illness

2009 ◽  
Vol 195 (2) ◽  
pp. 97-99 ◽  
Keyword(s):  
Psychiatric Disorders ◽  
Psychiatric Illness ◽  
Genetic Architecture ◽  
Association Studies ◽  
Human Diseases ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
The Past ◽  
Genome Wide

SummaryOver the past 2 years genome-wide association studies have made major contributions to understanding the genetic architecture of many common human diseases. This editorial outlines the development of such studies in psychiatry and highlights the opportunities for advancing understanding of the biological underpinnings and nosological structure of psychiatric disorders.

scholarly journals Genomic and Personalized Medicine Approaches for Substance Use Disorders (SUDs) Looking at Genome-Wide Association Studies

Biomedicines ◽  
2021 ◽  
Vol 9 (12) ◽  
pp. 1799
Author(s):  
Danilo Cozzoli ◽  
Alessia Daponte ◽  
Salvatore De Fazio ◽  
Vincenza Ariano ◽  
Maria Rita Quaranta ◽  
...  
Keyword(s):  
Substance Use ◽  
Medical Treatment ◽  
Drug Addiction ◽  
Substance Use Disorder ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Negative Consequences ◽  
Genetic Studies ◽  
Genome Wide

Drug addiction, or substance use disorder (SUD), is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behaviour persist despite serious negative consequences. Drug abuse represents a problem that deserves great attention from a social point of view, and focuses on the importance of genetic studies to help in understanding the genetic basis of addiction and its medical treatment. Despite the complexity of drug addiction disorders, and the high number of environmental variables playing a role in the onset, recurrence, and duration of the symptoms, several studies have highlighted the non-negligible role of genetics, as demonstrated by heritability and genome-wide association studies. A correlation between the relative risk of addiction to specific substances and heritability has been recently observed, suggesting that neurobiological mechanisms may be, at least in part, inherited. All these observations point towards a scenario where the core neurobiological factors of addiction, involving the reward system, impulsivity, compulsivity, stress, and anxiety response, are transmitted, and therefore, genes and mutations underlying their variation might be detected. In the last few years, the development of new and more efficient sequencing technologies has paved the way for large-scale studies in searching for genetic and epigenetic factors affecting drug addiction disorders and their treatments. These studies have been crucial to pinpoint single nucleotide polymorphisms (SNPs) in genes that affect the reaction to medical treatments. This is critically important to identify pharmacogenomic approaches for substance use disorder, such as OPRM1 SNPs and methadone required doses for maintenance treatment (MMT). Nevertheless, despite the promising results obtained by genome-wide association and pharmacogenomic studies, specific studies related to population genetics diversity are lacking, undermining the overall applicability of the preliminary findings, and thus potentially affecting the portability and the accuracy of the genetic studies. In this review, focusing on cannabis, cocaine and heroin use, we report the state-of-the-art genomics and pharmacogenomics of SUDs, and the possible future perspectives related to medical treatment response in people that ask for assistance in solving drug-related problems.

Genetics of Intracranial Aneurysms

Stroke ◽  
2021 ◽  
Author(s):  
Mark K. Bakker ◽  
Ynte M. Ruigrok
Keyword(s):  
Genetic Risk ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Association Studies ◽  
Current Status ◽  
Genome Wide Association Studies ◽  
Genetic Studies ◽  
The Past ◽  
Genome Wide ◽  
Family Based ◽  
Severe Type

Rupture of an intracranial aneurysm leads to aneurysmal subarachnoid hemorrhage, a severe type of stroke which is, in part, driven by genetic variation. In the past 10 years, genetic studies of IA have boosted the number of known genetic risk factors and improved our understanding of the disease. In this review, we provide an overview of the current status of the field and highlight the latest findings of family based, sequencing, and genome-wide association studies. We further describe opportunities of genetic analyses for understanding, prevention, and treatment of the disease.

Genome-wide association studies

2019 ◽  
pp. 51-62
Author(s):  
Thomas W Mühleisen ◽  
Sven Cichon
Keyword(s):  
Basic Concept ◽  
Association Studies ◽  
A Priori ◽  
Genome Wide Association ◽  
Psychiatric Research ◽  
A Priori Knowledge ◽  
Genome Wide Association Studies ◽  
The Past ◽  
Genome Wide ◽  
Technological Developments

Genome-wide association studies (GWAS) have evolved over the past ten years into a very successful tool for investigating the genetic architecture of multifactorial human traits and disorders. One major advantage of GWAS is that they do not require any a priori knowledge about the biological mechanisms underlying the traits and disorders under study. This chapter describes the scientific and technological developments that made GWAS possible and the underlying basic concept of these studies. The chapter considers what has been learned from GWAS in psychiatric research so far, what are the limitations, and looks forward to the future of GWAS.

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