Genomewide Association Studies and Human Disease

Institute of Neurology, University College London, London, United Kingdom. at
New England Journal of Medicine (Impact Factor: 55.87). 05/2009; 360(17):1759-68. DOI: 10.1056/NEJMra0808700
Source: PubMed

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    • "Leukocyte responses to particular chemokines are determined by their complement of chemokine receptors [7]. Additionally, genome-wide association studies (GWAS) have identified a large number of robust associations between special chromosomal loci and complex human disease [8]. Determination of single nucleotide polymorphisms (SNPs) and haplotype blocks has led to increasingly effective approaches to the identification of genetic variation associated with various multifactorial diseases inclusive of chemokines study. "
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    ABSTRACT: The chemokine receptor CCR5 polymorphism, which confers resistance to HIV infection, has been associated with reduced risk of cardiovascular disease. However, the association of the chemokine, CCL5, and its receptor, CCR5, polymorphism and coronary artery disease (CAD) in the Taiwanese has not been studied. In this study, 483 subjects who received elective coronary angiography were recruited from Chung Shan Medical University Hospital. CCL5-403 and CCR5-59029 were determined by polymerase chain reaction-restriction fragment length polymorphism. We found that CCL5-403 with TT genotype frequencies was significantly associated with the risk of CAD group (odds ratio = 3.063 and p = 0.01 2 ). Moreover, the frequencies of CCR5-59029 with GG or GA genotype were higher than AA genotype in acute coronary syndrome individuals (odds ratio = 1.853, CI = 1.176–2.921, p = 0.008 ). In conclusion, we found that CCL5-403 polymorphism may increase genetic susceptibility of CAD. CCL5-403 or CCR5-59029 single nucleotide polymorphism may include genotype score and it may predict cardiovascular event.
    Full-text · Article · Dec 2015 · Evidence-based Complementary and Alternative Medicine
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    • "Recently, the genomewide association study (GWAS) technique was developed and used to search for single nucleotide polymorphisms (SNPs) and functional genes that affect quantitative traits. A GWAS does not assume that certain genes or QTLs are associated with specific traits (Hardy and Singleton, 2009), but is rather a genome-wide study of the association between given traits and genetic markers (Liu et al., 2008; McCarthy et al., 2008; Cho et al., 2009). Most previous studies have used gene chips, but a new and efficient solution for large-scale genotyping called specific-locus amplified fragment sequencing (SLAF-seq) has been developed. "

    Preview · Article · Jan 2015 · Genetics and molecular research: GMR
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    • "Genetic investigation of individuals who have had a stroke is a promising approach for identification of novel biological mechanisms that underlie the development of cerebrovascular disease. Thanks to modern advances in the field of stroke genetics, many cases of cryptogenic stroke have been clarified; the discovery of new pathogenetic pathways might lead in the future to the development of preventive strategies and acute treatments [14] [15]. "
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    ABSTRACT: Background: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. Scope of review: Here we review the single-gene causes of ischemic stroke, bringing the reader from the candidate gene method toward the exciting new horizons of genetic technology. Major conclusions: The aetiological diagnosis of ischemic stroke in young adults is more complex than in the elderly. The identification of a genetic cause is important to provide appropriate counseling and to start a correct therapy, when available. The advent of GWAS technology, such as for other complex pathological conditions, has contributed enormously to the understanding of many of these genetic bases. For success large, well phenotyped case cohorts are required, and international collaborations are essential. General significance: This review focuses on the main causes of genetically-based ischemic stroke in young adults, often classified as indeterminate, investigating also the recent findings of the GWAS, in order to improve diagnostic and therapeutic management.
    Full-text · Article · Dec 2014 · Biochimica et Biophysica Acta - Clinical
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