ArticleHaematologica2011
The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
Article in Haematologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Hypoxia-inducible factor-1α(Pro-582-Ser) polymorphism prevents iron deprivation in healthy blood donors.Blood transfusion = Trasfusione del sangue · 2013Trial
- The Molecular Pathology of Blood Cancer: A Comprehensive Review of Chromosome and Genetic Abnormalities and Their Clinical Utility.British journal of biomedical science · 2025Review
- Early-onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rarePulmonary circulation · 2022Article
- Article
- Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.Haematologica · 2020Article
- Re-evaluation of hematocrit as a determinant of thrombotic risk in erythrocytosis.Haematologica · 2019Review
- Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia.The Journal of clinical investigation · 2018Article
- Concurrent Polycythemia of Undetermined Etiology and Smouldering Plasma Cell Myeloma.Case reports in pathology · 2018Article
- Hypoxia-inducible factors enhance the effector responses of CD8(+) T cells to persistent antigen.Nature immunology · 2013Article
- The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).Haematologica · 2013Article
- Association of genetic variation in calmodulin and left ventricular mass in full-term newborns.International journal of genomics · 2013Article
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
Abstract
The germ-line loss-of-function VHL(R200W) mutation is common in Chuvashia, Russia and occurs in other parts of the world. VHL(R200W) 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 VHL(R200W) 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 VHL(R200W) 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 VHL(R200W) heterozygotes compared to controls (95% confidence interval 1.4-22.7; P=0.017). In conclusion, heterozygosity for VHL(R200W) may provide protection from anemia; such protection could explain the persistence of this mutation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.