TY - JOUR
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
KW - Haptoglobin
UR - http://www.scopus.com/inward/record.url?scp=85063314953&partnerID=8YFLogxK
U2 - 10.1016/j.cca.2019.03.1617
DO - 10.1016/j.cca.2019.03.1617
M3 - Article (Academic Journal)
C2 - 30898509
AN - SCOPUS:85063314953
VL - 494
SP - 138
EP - 142
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
ER -