Pharmacogenetics and target identification in diabetes

Ewan R Pearson (Lead / Corresponding author)

    Research output: Contribution to journalReview articlepeer-review

    12 Citations (Scopus)
    452 Downloads (Pure)


    In diabetes, pharmacogenetics can be used both to identify patient subgroups who will have most benefit and/or least harm from a particularly treatment, and to gain insights into the molecular mechanisms of drug action and disease aetiology. There is increasing evidence that genetic variation alters response to diabetes treatments-both in terms of glycaemic response and side effects. This can be seen with dramatic impact on clinical care, in patients with genetic forms of diabetes such as Maturity Onset Diabetes of the Young caused by HNF1A mutations, and Neonatal diabetes due to activating mutations in ABCC8 or KCNJ11. Beyond monogenic diabetes, pharmacogenetic variants have yet to impact on clinical practice, yet the effect sizes (e.g. for metformin intolerance and OCT1 variants; or for metformin action and SLC2A2 variants) are potentially of clinical utility, especially if the genotype is already known at the point of prescribing. Over the next few years, increasing cohort sizes and linkage at scale to electronic medical records will provide considerable potential for stratification and novel target identification in diabetes.

    Original languageEnglish
    Pages (from-to)68-73
    Number of pages6
    JournalCurrent Opinion in Genetics & Development
    Early online date24 Feb 2018
    Publication statusPublished - 1 Jun 2018


    • Journal Article
    • Review

    ASJC Scopus subject areas

    • Genetics
    • Developmental Biology


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