Genetic determinants of circulating haptoglobin concentration

Nabila Kazmi; Yoshiro Koda; Ndeye Coumba Ndiaye; Sophie Visvikis-Siest; Matthew J. Morton; Tom R. Gaunt; Ian Galea

doi:10.1016/j.cca.2019.03.1617

Genetic determinants of circulating haptoglobin concentration

Nabila Kazmi, Yoshiro Koda, Ndeye Coumba Ndiaye, Sophie Visvikis-Siest, Matthew J. Morton, Tom R. Gaunt, Ian Galea^*

^*Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

5 Citations (Scopus)

239 Downloads (Pure)

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, with a combined sample size of 1210 participants, 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.

Original language	English
Pages (from-to)	138-142
Number of pages	5
Journal	Clinica Chimica Acta
Volume	494
Early online date	18 Mar 2019
DOIs	https://doi.org/10.1016/j.cca.2019.03.1617
Publication status	Published - 1 Jul 2019

Structured keywords

ICEP

Keywords

ALSPAC
Copy number variant
Haptoglobin

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10.1016/j.cca.2019.03.1617

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@article{d23fb67eeb564f728eead27130640fc2,

title = "Genetic determinants of circulating haptoglobin concentration",

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, with a combined sample size of 1210 participants, 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.",

keywords = "ALSPAC, Copy number variant, Haptoglobin",

author = "Nabila Kazmi and Yoshiro Koda and Ndiaye, {Ndeye Coumba} and Sophie Visvikis-Siest and Morton, {Matthew J.} and Gaunt, {Tom R.} and Ian Galea",

year = "2019",

month = jul,

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doi = "10.1016/j.cca.2019.03.1617",

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T1 - Genetic determinants of circulating haptoglobin concentration

AU - Kazmi, Nabila

AU - Koda, Yoshiro

AU - Ndiaye, Ndeye Coumba

AU - Visvikis-Siest, Sophie

AU - Morton, Matthew J.

AU - Gaunt, Tom R.

AU - Galea, Ian

PY - 2019/7/1

Y1 - 2019/7/1

N2 - 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, with a combined sample size of 1210 participants, 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.

AB - 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, with a combined sample size of 1210 participants, 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.

KW - ALSPAC

KW - Copy number variant

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