Genetic determinants of circulating haptoglobin concentration
Genetic determinants of circulating haptoglobin concentration
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.
138-142
Kazmi, Nabila
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Koda, Yoshiro
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Ndiaye, Ndeye Coumba
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Visvikis-Siest, Sophie
3edbba2d-316a-402a-b2ce-a491372eee2b
Morton, Matthew
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Gaunt, Tom R.
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Galea, Ian
66209a2f-f7e6-4d63-afe4-e9299f156f0b
July 2019
Kazmi, Nabila
ae4d2d4d-3133-4b29-aa08-ad526681ea9b
Koda, Yoshiro
26134bc1-71a3-4b89-9d05-a32addf35af7
Ndiaye, Ndeye Coumba
3b5631ce-3073-470e-81df-2e25c4f019f2
Visvikis-Siest, Sophie
3edbba2d-316a-402a-b2ce-a491372eee2b
Morton, Matthew
4a178059-af3c-4de6-9d69-4024ea6178dc
Gaunt, Tom R.
908f92b3-0c63-4f34-bee9-2351778a4e62
Galea, Ian
66209a2f-f7e6-4d63-afe4-e9299f156f0b
Kazmi, Nabila, Koda, Yoshiro, Ndiaye, Ndeye Coumba, Visvikis-Siest, Sophie, Morton, Matthew, Gaunt, Tom R. and Galea, Ian
(2019)
Genetic determinants of circulating haptoglobin concentration.
Clinica Chimica Acta, 494, .
(doi:10.1016/j.cca.2019.03.1617).
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.
Text
Kazmi et al 2019
- Accepted Manuscript
More information
Accepted/In Press date: 17 March 2019
e-pub ahead of print date: 18 March 2019
Published date: July 2019
Identifiers
Local EPrints ID: 429312
URI: http://eprints.soton.ac.uk/id/eprint/429312
ISSN: 0009-8981
PURE UUID: 8ac6525b-8815-4995-9bc7-632f12c4301d
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Date deposited: 26 Mar 2019 17:30
Last modified: 16 Mar 2024 07:42
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Contributors
Author:
Nabila Kazmi
Author:
Yoshiro Koda
Author:
Ndeye Coumba Ndiaye
Author:
Sophie Visvikis-Siest
Author:
Matthew Morton
Author:
Tom R. Gaunt
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