A brief history of ankylosing spondylitis

2016 ◽  
Author(s):  
Stefan Siebert ◽  
Sengupta Raj ◽  
Alexander Tsoukas
Keyword(s):  
Ankylosing Spondylitis ◽  
Clinical Features ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Hla B27 ◽  
The Past ◽  
Genome Wide ◽  
Clinical Radiology ◽  
History Of

The history of ankylosing spondylitis (AS) dates back to the discovery of skeletons with characteristic spinal changes. The disease was further defined by correlating pathological and clinical features, and the development of clinical radiology. Subsequent epidemiology and familial studies highlighted the association with other related conditions as part of the spondyloarthritides. The discovery of HLA-B27 confirmed this association. Over the past two decades, genome-wide association studies, and advances in imaging and immunology have yielded dramatic insights into the disease and the development of highly effective therapies.

scholarly journals Host genetics and microbiome associations from the lens of genome wide association studies

2018 ◽  
Author(s):  
Omer Weissbrod ◽  
Daphna Rothschild ◽  
Elad Barkan ◽  
Eran Segal
Keyword(s):  
Gut Microbiome ◽  
Complex Traits ◽  
Association Studies ◽  
Meta Analysis ◽  
Lessons Learned ◽  
Host Genome ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
History Of

Recent studies indicate that the gut microbiome is partially heritable, motivating the need to investigate microbiome-host genome associations via microbial genome-wide association studies (mGWAS). Existing mGWAS demonstrate that microbiome-host genotypes associations are typically weak and are spread across multiple variants, similar to associations often observed in genome-wide association studies (GWAS) of complex traits. Here we reconsider mGWAS by viewing them through the lens of GWAS, and demonstrate that there are striking similarities between the challenges and pitfalls faced by the two study designs. We further advocate the mGWAS community to adopt three key lessons learned over the history of GWAS: (a) Adopting uniform data and reporting formats to facilitate replication and meta-analysis efforts; (b) enforcing stringent statistical criteria to reduce the number of false positive findings; and (c) considering the microbiome and the host genome as distinct entities, rather than studying different taxa and single nucleotide polymorphism (SNPs) separately. Finally, we anticipate that mGWAS sample sizes will have to increase by orders of magnitude to reproducibly associate the host genome with the gut microbiome.

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 A concise history of genome-wide association studies

2013 ◽  
Vol 1 (1) ◽  
pp. 4
Author(s):  
Amein Al-Ali ◽  
SanderW van der Laan ◽  
FolkertW Asselbergs ◽  
BobbyP. C. Koeleman
Keyword(s):  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
History Of

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.

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 The impact of genome-wide association studies on biomedical research publications

2017 ◽  
Author(s):  
Travis J. Struck ◽  
Brian K. Mannakee ◽  
Ryan N. Gutenkunst
Keyword(s):  
Biomedical Research ◽  
Human Disease ◽  
Association Studies ◽  
Genome Wide Association ◽  
Disease Genes ◽  
Genome Wide Association Studies ◽  
Complex Human Disease ◽  
The Past ◽  
Research Publications ◽  
Genome Wide

AbstractThe past decade has seen major investment in genome-wide association studies (GWAS), with the goal of identifying and motivating research on novel genes involved in complex human disease. To assess whether this goal is being met, we quantified the effect of GWAS on the overall distribution of biomedical research publications and on the subsequent publication history of genes newly associated with complex disease. We found that the historical skew of publications toward genes involved in Mendelian disease has not changed since the advent of GWAS. Genes newly implicated by GWAS in complex disease do experience additional publications compared to control genes, and they are more likely to become exceptionally studied. But the magnitude of both effects has declined dramatically over the past decade. Our results suggest that reforms to encourage follow-up studies may be needed for GWAS to most successfully guide biomedical research toward the molecular mechanisms underlying complex human disease.Author summaryOver the past decade, thousands of genome-wide association studies (GWAS) have been performed to link genetic variation with complex human disease. A major goal of such studies is to identify novel disease genes, so they can be further studied. We tested whether this goal is being met, by studying patterns of scientific research publications on human genes. We found that publications are still concentrated on genes involved in simple Mendelian disease, even after the advent of GWAS. Compared to other genes, disease genes discovered by GWAS do experience additional publications, but that effect has declined dramatically since GWAS were first performed. Our results suggest that the ability of GWAS to stimulate research into novel disease genes is declining. To realize the full potential of GWAS to reveal the molecular mechanisms driving human disease, this decline and the reasons for it must be understood, so that it can be reversed.

scholarly journals Colorectal Cancer Risk by Genetic Variants in Populations With and Without Colonoscopy History

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Feng Guo ◽  
Xuechen Chen ◽  
Jenny Chang-Claude ◽  
Michael Hoffmeister ◽  
Hermann Brenner
Keyword(s):  
Colorectal Cancer ◽  
Prediction Models ◽  
Association Studies ◽  
Statistical Tests ◽  
The United States ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Large Genome ◽  
Genome Wide ◽  
History Of

Abstract Background Polygenic risk scores (PRS), which are derived from results of large genome-wide association studies, are increasingly propagated for colorectal cancer (CRC) risk stratification. The majority of studies included in the large genome-wide association studies consortia were conducted in the United States and Germany, where colonoscopy with detection and removal of polyps has been widely practiced over the last decades. We aimed to assess if and to what extent the history of colonoscopy with polypectomy may alter metrics of the predictive ability of PRS for CRC risk. Methods A PRS based on 140 single nucleotide polymorphisms was compared between 4939 CRC patients and 3797 control persons of the Darmkrebs: Chancen der Verhütung durch Screening (DACHS) study, a population-based case-control study conducted in Germany. Risk discrimination was quantified according to the history of colonoscopy and polypectomy by areas under the curves (AUCs) and their 95% confidence intervals (CIs). All statistical tests were 2-sided. Results AUCs and 95% CIs were higher among subjects without previous colonoscopy (AUC = 0.622, 95% CI = 0.606 to 0.639) than among those with previous colonoscopy and polypectomy (AUC = 0.568, 95% CI = 0.536 to 0.601; difference [Δ AUC] = 0.054, P = .004). Such differences were consistently seen in sex-specific groups (women: Δ AUC = 0.073, P = .02; men: Δ AUC = 0.046, P = .048) and age-specific groups (younger than 70 years: Δ AUC = 0.052, P = .07; 70 years or older: Δ AUC = 0.049, P = .045). Conclusions Predictive performance of PRS may be underestimated in populations with widespread use of colonoscopy. Future studies using PRS to develop CRC prediction models should carefully consider colonoscopy history to provide more accurate estimates.

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

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