AI Article Synopsis
- - Haptoglobin (Hp) is a key protein in the blood that binds free hemoglobin to reduce its harmful effects, and it exists in two variants (Hp1 and Hp2) that differ in levels and functions.
- - A specific genetic variation, rs2000999, has been linked to serum Hp levels and its impact is distinct from the variations caused by the HP gene itself.
- - A study combining data from three countries found that using both rs2000999 and HP gene variations helps clarify the underlying genetic mechanisms affecting differences in Hp levels associated with Hp1 and Hp2 alleles.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541910 | PMC |
| http://dx.doi.org/10.1016/j.cca.2019.03.1617 | DOI Listing |
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