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Showing 1–5 of 5 results
Advanced filters: Author: "Mark I. McCarthy" Clear advanced filters

  • Recent successes in identifying loci involved in predisposition to type 2 diabetes have been driven by genome-wide association studies in populations of European descent. A new discovery, using samples of East Asian origin, of diabetes susceptibility variants mapping to the KCNQ1 gene highlights the importance of extending these studies to a wider range of populations.

    • Mark I McCarthy
    News & Views
    Nature Genetics
    Volume: 40, P: 1039-1040

  • Type 2 diabetes mellitus (T2DM) is a major global health challenge. Development of more effective strategies for prevention and therapy depends on an improved understanding of its pathogenetic mechanisms. 2016 ends a period during which large-scale discovery of risk alleles for T2DM became routine and heralds a shift in research focus towards their exploitation to fuel mechanistic insights.

    • Mark I. McCarthy
    News & Views
    Nature Reviews Endocrinology
    Volume: 13, P: 71-72

  • A new study finds that individuals with high plasma triglyceride levels carry approximately twice as many rare, coding genetic variants within four candidate genes identified through genome-wide association studies than individuals without these high levels. This study demonstrates the overlap of rare and common variant signals at loci associated with lipid levels and shows the value of efforts to extend susceptibility variant discovery to embrace the full allele-frequency spectrum.

    • Anna L Gloyn
    • Mark I McCarthy
    News & Views
    Nature Genetics
    Volume: 42, P: 648-650

  • Diabetes mellitus is often accompanied by numerous microvascular and/or macrovascular complications. Identification of risk alleles for diabetic complications could lead to improved understanding of the underlying mechanistic processes, but has so far been limited. Here, McCarthy and colleagues discuss the utility of human genetic studies in identifying novel risk variants for diabetic complications, the challenges faced in identifying robust genetic associations for diabetic kidney disease and the benefits that genome-wide association studies can offer.

    • Emma Ahlqvist
    • Natalie R. van Zuydam
    • Mark I. McCarthy
    Reviews
    Nature Reviews Nephrology
    Volume: 11, P: 277-287

  • As detailed here, recent genome-wide scans have identified several novel loci influencing obesity and common forms of diabetes. Such findings may in the future unravel pathways that can be targets for therapy or intervention, and perhaps enable treatments to be tailored to individuals on the basis of their genetic makeup.

    • Cecilia M Lindgren
    • Mark I McCarthy
    Reviews
    Nature Clinical Practice Endocrinology & Metabolism
    Volume: 4, P: 156-163