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Type: Journal article
Title: Haptoglobin duplicon, hemoglobin, and vitamin C: analyses in the British Women's Heart and Health Study and Caerphilly Prospective Study
Author: Guthrie, P.
Abdollahi, M.
Gaunt, T.
Lawlor, D.
Ben-Shlomo, Y.
Gallacher, J.
Smith, G.
Day, I.
Rodriguez, S.
Citation: Disease Markers, 2014; 2014:529456-1-529456-5
Publisher: Hindawi Publishing Corporation
Issue Date: 2014
ISSN: 0278-0240
Statement of
Philip A. I. Guthrie, Mohammad R. Abdollahi, Tom Gaunt, Debbie A. Lawlor, Yoav Ben-Shlomo, John Gallacher, George Davey Smith, Ian N.M. Day, and Santiago Rodriguez
Abstract: Background. Haptoglobin acts as an antioxidant by limiting peroxidative tissue damage by free hemoglobin. The haptoglobin gene allele Hp2 comprises a 1.7 kb partial duplication. Relative to allele Hp1, Hp2 carriers form protein multimers, suboptimal for hemoglobin scavenging. Objective. To examine the association of haptoglobin genotype with a range of phenotypes, with emphasis on vitamin C and hemoglobin levels. Methods.We applied a quantitative PCR assay for the duplication junction to two population cohorts including 2747 British women and 1198 British men. We examined the association of haptoglobin duplicon copy number with hemoglobin and vitamin C and used the copy number to complete a phenome scan. Results. Hemoglobin concentrations were greater in those with Hp2,2 genotype, in women only (Hp1,1 13.45 g/dL, Hp1,2 13.49 g/dL, Hp2,2 13.61 g/dL; = 0.002), though statistically there was no evidence of a difference between the sexes ( value = 1.2, = 0.24). Haptoglobin genotype was not associated with vitamin C or any other phenotype in either cohort. Conclusions. Our results do not support association of haptoglobin genotype with vitamin C or with other phenotypes measured in two population cohorts. The apparent association between haptoglobin genotype and hemoglobin in the women’s cohort merits further investigation.
Keywords: Humans; Ascorbic Acid; Haptoglobins; Hemoglobins; Prospective Studies; Gene Duplication; Sex Characteristics; Gene Frequency; Gene Dosage; Middle Aged; Wales; Female; Male; Genetic Association Studies
Description: Published 30 November 2014
Rights: Copyright © 2014 Philip A. I. Guthrie et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
RMID: 0030042723
DOI: 10.1155/2014/529456
Appears in Collections:Medicine publications

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