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Successful Aging in Research
Published in Thomas S. Inui, Richard M. Frankel, Enhancing the Professional Culture of Academic Health Science Centers, 2022
Bruce M. Psaty, David S. Siscovick
For 20 years, I collected blood samples from SCA cases and controls in our studies of fatty acids. Recognizing that genetic variation may contribute to these events, I saved the white cell pellets, so we could extract DNA later for genetic studies. Taking advantage of the resources of what is now called the Cardiac Arrest Blood Study (CABS) and advances in high throughput genome science, my colleagues, Nona Sotoodehnia, Tom Rea, and Rozenn Lemaitre, and I were able to obtain four R01s to examine genetic associations with SCA risk and outcomes, using both candidate gene and GWAS approaches. The CABS study was converted into the CABS-Repository (CABS-R), which includes EMS care, clinical data from prior and index hospitalizations, blood samples (aliquots of plasma, WBCs (DNA), and RBCs), results of genetic studies, biomarkers, and information on the built environment. The intent is to create an ongoing national resource to examine the determinants and cardiovascular and neurological outcomes of SCA in the community.
Special Topics
Published in Douglas D. Gunzler, Adam T. Perzynski, Adam C. Carle, Structural Equation Modeling for Health and Medicine, 2021
Douglas D. Gunzler, Adam T. Perzynski, Adam C. Carle
Genome-wide association studies (GWAS) are observational studies to identify genes involved in human disease. Researchers use data from these types of studies to pinpoint genes that influence the risk of developing certain diseases.
DNA Methods in Veterinary Medicine
Published in Rebecca A. Krimins, Learning from Disease in Pets, 2020
The success of GWAS studies requires that there is genetic and phenotypic variation in a species and that the two can be correlated. However, if the phenotype is “new” or too rare to collect a sufficient number of cases, then GWAS studies may not be fruitful. In species with long haplotypes, such as dogs (because of their fairly recent domestication), there may not be enough time for recombination to “break” the haplotypes to narrow the region of the suspected gene. Also, a particular phenotype may be caused by any of several different genes. In these instances, DNA sequencing is a better tool.
The rs1333040 and rs10757278 9p21 locus polymorphisms in patients with intracranial aneurysm: a meta-analysis
Published in International Journal of Neuroscience, 2023
Antonis Adamou, Georgios Mavrovounis, Eleftherios T. Beltsios, Ioannis Liampas, Zisis Tsouris, Athina-Maria Aloizou, Vasileios Siokas, Efthimios Dardiotis
Finally, our meta-analysis has several limitations that need to be addressed. The major limitation of our study is the limited number of publications and subjects included in the final meta-analysis. Having mentioned that, our results should be interpreted with care and generalizations should be avoided. There is a certain need for studies with a larger number of subjects in order to reach certain conclusions. This should be facilitated by the execution of larger GWAS. Moreover, we included studies using first generation sequencing methods (SNPs), which is considered as a relatively old method. Despite being old, it is not rendered obsolete, thus we analyzed the available data of this method to draw certain conclusions. In addition, studies with both hospitalized and healthy controls were included in our analyses. It is comprehensible that financial and ethical parameters impede the appropriate neuroimaging of healthy controls, probably inducing misclassification bias. On the other hand, the inclusion of hospitalized controls having undergone neuroimaging may be accountable for the induction selection bias (inclusion of patients with allele frequency different from the general population). Therefore, it was not possible for any study to involve an appropriate control group (healthy controls having undergone proper neuroimaging).
Human height: a model common complex trait
Published in Annals of Human Biology, 2023
Mitchell Conery, Struan F. A. Grant
In summary, height is broadly similar to other complex phenotypes apart from its ease of measurement and high heritability. These factors have made it a widely employed model trait for studying the topic of complex phenotype inheritance. However, throughout the GWAS era, height has not always been at the leading edge of variant and gene discovery, that is until its most recent GWAS by Yengo et al. In having at last closed the gap of missing common SNP-based heritability for a common trait, Yengo et al. may have signalled the beginning of the end of the GWAS era. Their work demonstrates the limits to endlessly increasing GWAS sample sizes and highlights the need for greater diversity in study populations. Moreover, their results directly contradict the most extreme form of the omnigenic model and imply that highly polygenic inheritance is likely a more appropriate model for complex traits. The analysed polygenic score results also suggest that when sample sizes across complex phenotype GWAS efforts increase to the point of heritability saturation across all ancestries, polygenic risk scores will become powerful tools for the prediction of disease risk. However, the implications of this study for the identification of individual effector disease genes are less optimistic. Should the GWAS era be drawing to a close, the era of gene identification that follows will surely be one of both great challenges and opportunities.
Genome- and transcriptome-wide association studies show that pulmonary embolism is associated with bone-forming proteins
Published in Expert Review of Hematology, 2022
Ruoyang Feng, Mengnan Lu, Yanni Yang, Pan Luo, Lin Liu, Ke Xu, Peng Xu
GWAS is used to identify genetic markers associated with phenotypic variation. In contrast, transcriptome-wide association study (TWAS) helps detect associations between gene expression and phenotypic variants [17].The core idea of TWAS is to use expressions based on their Predicted correlation of expression to select SNPs to form a set of SNPs for the next phase of GWAS testing. In recent years, TWAS has emerged as a new technique to identify functionally relevant genes whose expression is associated with target traits [18]. Ferretti et al [18] used TWAS to identify potential genetic markers and drug candidates in amyotrophic lateral sclerosis. Huang et al [19] similarly identified novel risk loci for autism spectrum disorders through TWASs, providing new researchable directions for the study of genetic mechanisms underlying autism. In this, we used large GWAS statistics to identify genes associated with PE in musculoskeletal and whole blood tissues and further compared these genes with differentially expressed genes (DEGs) for PE, thus presenting new advances to the study of PE with innovative and convincing results.