Browse/search for people

Publication - Professor Tom Gaunt

    Genetic determinants of circulating haptoglobin concentration

    Citation

    Kazmi, N, Gaunt, T, Koda, Y, Ndiaye, N, Visvikis-Siest, S, Morton, M & Galea, I, 2019, ‘Genetic determinants of circulating haptoglobin concentration’. Clinica Chimica Acta.

    Abstract

    Haptoglobin (Hp) is a major plasma acute-phase glycoprotein, which binds free haemoglobin to neutralize its toxicity. The HP gene exists as two copy number variants (CNV), HP1 and HP2, which differ in two ways: serum Hp level and functional differences in Hp protein products. Both mechanisms may underlie the HP CNV’s influence on susceptibility and/or outcome in several diseases. A single nucleotide polymorphism rs2000999 has also been associated with serum Hp level. In a meta-analysis of three studies from England, France and Japan, we show that rs2000999’s effect on circulating Hp level is independent from that of the HP CNV. The combined use of rs2000999 and the HP CNV can be an important genetic epidemiological tool to discriminate between the two potential mechanisms underlying differences between HP1 and HP2 alleles.

    Full details in the University publications repository