Genetic determinants of circulating haptoglobin concentration.
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ABSTRACT:
SUBMITTER: Kazmi N
PROVIDER: S-EPMC6541910 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
Genetic determinants of circulating haptoglobin concentration.
Kazmi Nabila N Koda Yoshiro Y Ndiaye Ndeye Coumba NC Visvikis-Siest Sophie S Morton Matthew J MJ Gaunt Tom R TR Galea Ian I
Clinica chimica acta; international journal of clinical chemistry 20190318
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 ...[more]
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