Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol.

doi:10.1016/j.gene.2012.03.034

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Article

Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol.

Gene - 10 May 2012

Guthrie Philip A I, Rodriguez Santiago, Gaunt Tom R, Lawlor Debbie A, Smith George Davey, Day Ian N M

Abstract excerpt

HP and HPR are related and contiguous genes in strong linkage disequilibrium (LD), encoding haptoglobin and haptoglobin-related protein. These bind and chaperone free Hb for recycling, protecting against oxidation. A copy number variation (CNV) within HP (Hp1/Hp2) results in different possible haptoglobin complexes which have differing properties. HPR rs2000999 (G/A), identified in meta-GWAS, influences total...

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Identifiers

PMID: 22433445
DOI: 10.1016/j.gene.2012.03.034
PMCID: PMC3405512

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