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Recurrent mutation at the classical haptoglobin structural polymorphism

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Polymorphism of haptoglobin in human serum was first discovered over 60 years ago. A new paper characterizes the complex structural variation at the HP locus in detail and, by using imputation from flanking SNP genotype data, shows that it affects blood cholesterol levels.

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Figure 1: Origin of the human haptoglobin alleles that modify cholesterol levels in the blood.

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Authors and Affiliations

  1. Edward J. Hollox is in the Department of Genetics, University of Leicester, Leicester, UK.,

    Edward J Hollox

  2. Louise V. Wain is in the Department of Health Sciences, University of Leicester, Leicester, UK.,

    Louise V Wain

Authors
  1. Edward J Hollox
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  2. Louise V Wain
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Correspondence to Edward J Hollox.

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The authors declare no competing financial interests.

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Hollox, E., Wain, L. Recurrent mutation at the classical haptoglobin structural polymorphism. Nat Genet 48, 347–348 (2016). https://doi.org/10.1038/ng.3534

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