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The Hunt for Low-Frequency Alleles Predisposing to Type 2 Diabetes and Related Cardiovascular Risk Factors

  • Diabetes + Insulin Resistance (M Rutter, Section Editor)
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Abstract

Research into the genetic basis of cardiovascular-related diseases is moving at an extremely fast pace. Developments in technology such as whole-genome sequencing and massive resources of DNA collected from hundreds of thousands of people mean scientists have an unprecedented ability to discover the genetic variation that predisposes to disease. Before 2007, very little was known about the variation in the human DNA sequence and its influence on common diseases. We now know of hundreds of common variants that influence LDL cholesterol levels, type 2 diabetes, hypertension and heart disease to name a few. Attention has now turned to the discovery of the genetic variants that occur in between 1 in 20 and 1 in 1000 individuals. These variants are unlikely to cause disease in the same way that mutations in some genes cause a monogenic disorder with a particular pattern of inheritance. But variants in this frequency range will shed light on biological mechanisms of disease. In this review, we focus on these variants and discuss how a range of study designs have identified low-frequency genetic variants with stronger predisposing effects on type 2 diabetes and related traits than common genetic variants.

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Conflict of Interest

Lorena Boquete Vilarino reports grants from Diabetes UK, during the conduct of the study. Timothy Frayling reports grants from Diabetes UK, grants from European Research Council, personal fees from Boehringer Ingelheim, during the conduct of the study.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by the author.

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Authors and Affiliations

  1. University of Exeter Medical School, University of Exeter, RILD building, Barrack Road, Exeter, EX2 5DW, UK

    Lorena Boquete Vilariño & Timothy M. Frayling

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  1. Lorena Boquete Vilariño
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  2. Timothy M. Frayling
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Correspondence to Timothy M. Frayling.

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This article is part of the Topical Collection on Diabetes + Insulin Resistance

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Boquete Vilariño, L., Frayling, T.M. The Hunt for Low-Frequency Alleles Predisposing to Type 2 Diabetes and Related Cardiovascular Risk Factors. Curr Cardiovasc Risk Rep 9, 47 (2015). https://doi.org/10.1007/s12170-015-0475-0

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  • DOI: https://doi.org/10.1007/s12170-015-0475-0

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