scholarly journals Genetic Studies of IgA Nephropathy: What Have We Learned from Genome-Wide Association Studies

2013 ◽  
pp. 52-64 ◽  
Author(s):  
Jingyuan Xie ◽  
Samantha Shapiro ◽  
Ali Gharavi
Keyword(s):  
Iga Nephropathy ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genetic Studies ◽  
Genome Wide

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 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.

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 Cumulative Effects of Variants Identified by Genome-wide Association Studies in IgA Nephropathy

2014 ◽  
Vol 4 (1) ◽  
Author(s):  
Xu-Jie Zhou ◽  
Yuan-Yuan Qi ◽  
Ping Hou ◽  
Ji-Cheng Lv ◽  
Su-Fang Shi ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Association Studies ◽  
Cumulative Effects ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide

scholarly journals Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Aniruddha Bhattacharyya ◽  
Yuting Huang ◽  
Sarah Hussain Khan ◽  
Cinthia Beskow Drachenberg ◽  
Laura C. Malone
Keyword(s):  
Iga Nephropathy ◽  
Alport Syndrome ◽  
Interstitial Fibrosis ◽  
Association Studies ◽  
Genome Wide Association ◽  
Immunofluorescent Staining ◽  
Renal Ultrasound ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Nephrotic Range Proteinuria

Abstract Background Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by COL4A5 mutation. Mutations of COL4A3 and COL4A4 on chromosome two are also common causes of Alport syndrome. IgAN is the most common glomerulonephritis worldwide. Though IgAN is usually sporadic, an estimated 15% of cases have an inheritable component. These cases of Familal IgA Nephropathy (FIgAN) can have mutations on genes which are known to cause Alport Syndrome. Case presentation We report a case of a 27-year-old man with strong family history of renal disease, who presented with hematuria and new non-nephrotic range proteinuria. Physical exam showed no abnormalities. His creatinine remained persistently elevated, and renal ultrasound exhibited bilaterally increased echogenicity consistent with Chronic Kidney Disease. Twenty-four-hour urinary collection revealed non-nephrotic range proteinuria of 1.4 g, with otherwise negative workup. On biopsy, he had IgA positive immunofluorescent staining as well as moderate interstitial fibrosis and tubular atrophy. Electron microscopy showed a basket-weave pattern of thickening and splitting of the lamina densa-consistent with Alport Syndrome, as well as mesangial expansion with electron-dense deposits -consistent with IgAN. Conclusions Mutations of COL4A5 on the X chromosome, as well as mutations of COL4A3 and COL4A4 on chromosome 2, can cause both Alport Syndrome and FIgAN. Genome wide association studies identified certain Angiotensin Converting Enzyme gene polymorphisms as independent risk factors for progression of IgAN. Our Presentation with this co-occurring pathology suggests a new paradigm where Alport Syndrome and FIgAN may represent manifestations of a single disease spectrum rather than two disparate pathologies. Appreciating hematuria through this framework has implications for treatments and genetic counseling. Further genome wide association studies will likely increase our understanding of Alport Syndrome, FIgAN, and other causes of hematuria.

The Australian Twin Registry as a Resource For Genetic Studies into Ophthalmic Traits

2012 ◽  
Vol 16 (1) ◽  
pp. 52-57
Author(s):  
Maria Schache ◽  
Paul N. Baird
Keyword(s):  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Linkage Studies ◽  
Genetic Studies ◽  
For Profit ◽  
Not For Profit ◽  
Twin Registry ◽  
Genome Wide ◽  
Broad Overview

The Australian Twin Registry (ATR) is a not-for-profit organization that coordinates research involving Australian twins and researchers. The ATR is one of the largest volunteer registries of its kind and contains over 33,000 twin pairs. The purpose of this review is to provide a broad overview of recent ophthalmic studies that have utilized the ATR for recruitment purposes. Such studies include the Australian Twin Eye Study (ATES) and the Genes in Myopia (GEM) study. The ATES and GEM studies have undertaken studies into the genetic influences on a number of ophthalmic traits through the use of heritability studies, linkage studies, genome-wide association studies, and candidate gene-based studies. An overview of these studies is provided in this review, as well as a description of the recruitment methodologies for both the ATES and GEM studies.

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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