76
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Assessing the quality of studies supporting genetic susceptibility and outcomes of ARDS

      research-article

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          The acute respiratory distress syndrome (ARDS) is a severe inflammatory disease manifested as a result of pulmonary and systemic responses to several insults. It is now well accepted that genetic variation influences these responses. However, little is known about the genes that are responsible for patient susceptibility and outcome of ARDS. Methodological flaws are still abundant among genetic association studies with ARDS and here, we aimed to highlight the quality criteria where the standards have not been reached, to expose the associated genes to facilitate replication attempts, and to provide quick-reference guidance for future studies. We conducted a PubMed search from January 2008 to September 2012 for original articles. Studies were considered if a statistically significant association was declared with either susceptibility or outcomes of all-cause ARDS. Fourteen criteria were used for evaluation and results were compared to those from a previous quality assessment report. Significant improvements affecting study design and statistical analysis were detected. However, major issues such as adjustments for the underlying population stratification and replication studies remain poorly addressed.

          Related collections

          Most cited references23

          • Record: found
          • Abstract: not found
          • Article: not found

          A navigator for human genome epidemiology.

            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            The future of association studies: gene-based analysis and replication.

            Historically, association tests were limited to single variants, so that the allele was considered the basic unit for association testing. As marker density increases and indirect approaches are used to assess association through linkage disequilibrium, association is now frequently considered at the haplotypic level. We suggest that there are difficulties in replicating association findings at the single-nucleotide-polymorphism (SNP) or the haplotype level, and we propose a shift toward a gene-based approach in which all common variation within a candidate gene is considered jointly. Inconsistencies arising from population differences are more readily resolved by use of a gene-based approach rather than either a SNP-based or a haplotype-based approach. A gene-based approach captures all of the potential risk-conferring variations; thus, negative findings are subject only to the issue of power. In addition, chance findings due to multiple testing can be readily accounted for by use of a genewide-significance level. Meta-analysis procedures can be formalized for gene-based methods through the combination of P values. It is only a matter of time before all variation within genes is mapped, at which point the gene-based approach will become the natural end point for association analysis and will inform our search for functional variants relevant to disease etiology.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Next generation disparities in human genomics: concerns and remedies.

              Studies of human genetics, particularly genome-wide association studies (GWAS), have concentrated heavily on European populations, with individuals of African ancestry rarely represented. Reasons for this include the distribution of biomedical funding and the increased population structure and reduced linkage disequilibrium in African populations. Currently, few GWAS findings have clinical utility and, therefore, the field has not yet contributed to health-care disparities. As human genomics research progresses towards the whole-genome sequencing era, however, more clinically relevant results are likely to be discovered. As we discuss here, to avoid the genetics community contributing to healthcare disparities, it is important to adopt measures to ensure that populations of diverse ancestry are included in genomic studies, and that no major population groups are excluded.
                Bookmark

                Author and article information

                Journal
                Front Genet
                Front Genet
                Front. Genet.
                Frontiers in Genetics
                Frontiers Media S.A.
                1664-8021
                06 February 2014
                2014
                : 5
                : 20
                Affiliations
                [1] 1CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III Madrid, Spain
                [2] 2Research Unit, Hospital Universitario N.S. de Candelaria Santa Cruz de Tenerife, Spain
                [3] 3Research Unit, Hospital Universitario Dr. Negrin Las Palmas de Gran Canaria, Spain
                [4] 4Department of Medicine, University of California San Francisco, CA, USA
                [5] 5Keenan Research Center at the Li Ka Shing Knowledge Institute, St. Michael's Hospital Toronto, ON, Canada
                [6] 6Applied Genomics Group (G2A), Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna Santa Cruz de Tenerife, Spain
                Author notes

                Edited by: Jill Barnholtz-Sloan, Case Western Reserve University School of Medicine, USA

                Reviewed by: Catherine Stein, Case Western Reserve University, USA; Robin T. Wilson, The Pennsylvania State University, USA

                *Correspondence: Carlos Flores, Unidad de Investigación, Hospital Universitario N.S. de Candelaria, Carretera del Rosario s/n, Santa Cruz de Tenerife 38010, Spain e-mail: cflores@ 123456ull.edu.es

                This article was submitted to Applied Genetic Epidemiology, a section of the journal Frontiers in Genetics.

                Article
                10.3389/fgene.2014.00020
                3915143
                d1f8123f-4187-4716-9453-6c55ec5fbf37
                Copyright © 2014 Acosta-Herrera, Pino-Yanes, Perez-Mendez, Villar and Flores.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                History
                : 30 October 2013
                : 21 January 2014
                Page count
                Figures: 2, Tables: 0, Equations: 0, References: 38, Pages: 6, Words: 4781
                Categories
                Genetics
                Perspective Article

                Genetics
                outcome,genetic factors,genetic susceptibility,population stratification,acute respiratory distress syndrome

                Comments

                Comment on this article