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Genetic determinants of circulating haptoglobin concentration

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.
0009-8981
138-142
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
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, 138-142. (doi:10.1016/j.cca.2019.03.1617).

Record type: Article

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.

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Kazmi et al 2019 - Accepted Manuscript
Restricted to Repository staff only until 17 March 2020.
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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: https://eprints.soton.ac.uk/id/eprint/429312
ISSN: 0009-8981
PURE UUID: 8ac6525b-8815-4995-9bc7-632f12c4301d
ORCID for Matthew Morton: ORCID iD orcid.org/0000-0003-1986-0863
ORCID for Ian Galea: ORCID iD orcid.org/0000-0002-1268-5102

Catalogue record

Date deposited: 26 Mar 2019 17:30
Last modified: 20 Jul 2019 01:01

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