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Haptoglobin: a review of the major allele frequencies worldwide and their association with diseases
Author(s) -
CARTER KYMBERLEY,
WORWOOD MARK
Publication year - 2007
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2007.00898.x
Subject(s) - haptoglobin , disease , allele frequency , cd163 , allele , gene , biology , immunology , genetic association , glycoprotein , genetics , medicine , genotype , single nucleotide polymorphism , phenotype
Summary Haptoglobin (Hp) is a plasma α 2 ‐glycoprotein which binds free haemoglobin, thus preventing oxidative damage. The complex is rapidly removed from the circulation by a specific receptor (CD163) found on macrophages. Three major subtypes, Hp1‐1, Hp2‐1 and Hp2‐2 are the product of two closely related genes HP 1 and HP 2 . The frequency of the HP 1 and HP 2 genes varies worldwide depending on racial origin: the HP 1 frequency varying from about 0.07 in parts of India to over 0.7 in parts of West Africa and South America. Both HP 1 and HP 2 have been linked to susceptibility to various diseases. Such associations may be explained by functional differences between the subtypes in the binding of Hb and its rate of clearance from the plasma. However, there are also corresponding negative reports for disease associations. The conflicting evidence on disease association and the lack of association between disease and particular populations, despite the wide range of HP 1 and HP 2 gene frequencies across the world, may indicate that any associations are marginal.