• Nephrol. Dial. Transplant. · May 2014

    Review

    Novel insights from genetic and epigenetic studies in understanding the complex uraemic phenotype.

    • Anna Witasp, Tomas J Ekström, Bengt Lindholm, Peter Stenvinkel, Martin Schalling, and Louise Nordfors.
    • Divisions of Renal Medicine and Baxter Novum, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
    • Nephrol. Dial. Transplant. 2014 May 1; 29 (5): 964-71.

    AbstractLike in many other common complex disorders, studies of chronic kidney disease (CKD) can now make use of the increasing knowledge of the human genome, its variations and impact on disease susceptibility, initiation, progression and complications. Such studies are facilitated by novel readily available high through-put genotyping methods and sophisticated analytical approaches to scan the genome for DNA variations and epigenetic modifications. Here, we review some of the recent discoveries that have emerged from these studies and expanded our knowledge of genetic risk loci and epigenetic markers in CKD pathophysiology. Obstacles and practical issues in this field are discussed.

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