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The heterozygote advantage of the chuvash polycythemia VHL \u3csup\u3eR200W\u3c/sup\u3e mutation may be protection against anemia
Authors
Tomas Ganz
Victor R. Gordeuk
+7 more
Galina Y. Miasnikova
Xiaomei Niu
Mehdi Nouraie
Daniel J. Okhotin
Lydia A. Polyakova
Josef T. Prchal
Adelina I. Sergueeva
Publication date
1 September 2011
Publisher
Digital Howard @ Howard University
Abstract
The germ-line loss-of-function VHLR200W mutation is common in Chuvashia, Russia and occurs in other parts of the world. VHLR200W homozygotes have elevated hypoxia inducible factor (HIF)-1 and HIF-2 levels, increased hemoglobin concentration, propensity to thrombosis and early mortality. Because the mutation persists from an ancient origin, we hypothesized that there is a heterozygote advantage. Thirty-four VHLR200W heterozygotes and 44 controls over 35 years of age from Chuvashia, Russia were studied. Anemia was defined as hemoglobin less than 130 g/L in men and less than 120 g/L in women. Mild anemia was present in 15% of VHLR200W heterozygotes and 34% of controls without a mutated VHL allele. By multivariate logistic regression, the odds of anemia were reduced an estimated 5.6-fold in the VHLR200W heterozygotes compared to controls (95% confidence interval 1.4-22.7; P=0.017). In conclusion, heterozygosity for VHLR200W may provide protection from anemia; such protection could explain the persistence of this mutation. © 2011 Ferrata Storti Foundation
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Last time updated on 16/12/2021