ArticleHaemophilia : the official journal of the World Federation of Hemophilia2011
A case-control study reveals immunoregulatory gene haplotypes that influence inhibitor risk in severe haemophilia A.
Article in Haemophilia : the official journal of the World Federation of Hemophilia, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- TNF‑α Gene Polymorphisms as Determinants of Alloantibody Emergence in Hemophilia: A Systematic Review and Meta-Analysis.Haemophilia : the official journal of the World Federation of HemophiliaPooled it
- Trial
- Immune System-Related Genetic Risk Factors for Inhibitory Antibody Development in Patients With Hemophilia: Reviewing an Old Problem From a New Perspective-A Narrative Review.Health science reports · 2025Article
- A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.Genes and immunity · 2025Article
- Candidate SNP Markers Significantly Altering the Affinity of the TATA-Binding Protein for the Promoters of Human Genes Associated with Primary Open-Angle Glaucoma.International journal of molecular sciences · 2024Article
- Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.Haemophilia : the official journal of the World Federation of Hemophilia · 2022Article
- Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository.Frontiers in medicine · 2022Article
- Risk stratification integrating genetic data for factor VIII inhibitor development in patients with severe hemophilia A.PloS one · 2019Article
- Achievements, challenges and unmet needs for haemophilia patients with inhibitors: Report from a symposium in Paris, France on 20 November 2014.Haemophilia : the official journal of the World Federation of Hemophilia · 2016Article
- Game, set, match for factor VIII mismatch?Blood · 2015Article
- Article
- Violating the theory of single gene-single disorder: inhibitor development in hemophilia.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2015Review
- FVIII inhibitors: pathogenesis and avoidance.Blood · 2015Review
- Factor VIII inhibitors in hemophilia A: rationale and latest evidence.Therapeutic advances in hematology · 2013Article
- Importance of immune response genes in hemophilia A.Revista brasileira de hematologia e hemoterapia · 2013Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Several genes that modify risk of factor VIII (FVIII) inhibitors in haemophilia A patients have been identified. Aside from the underlying mutations that cause haemophilia A, inhibitor risk appears to be modified by polymorphisms in various cytokines and immunomodulators including IL10, TNFα and CTLA4. HLA haplotypes have not been strong determinants of inhibitor risk. We sought to confirm previous observations on FVIII inhibitor risk-modifying genes and to test new candidate genes encoding various otherTH1/TH2 cytokines. We also sought to determine whether normal FVIII gene polymorphisms affect inhibitor risk in caucasians. We studied 915 caucasian, severe haemophilia A patients (282 inhibitor cases and 633 non-inhibitor controls). Genes were analysed using 368 tagging single nucleotide polymorphisms starting 20 kb 5' and ending 10 kb 3' of each gene's coding sequence; four other polymorphisms (factor V Leiden & prothrombin 20210 polymorphisms and two in HFE) were also evaluated. Haplotypes that increased inhibitor risk were found in IL10 (OR = 1.33, P = 0.04), IL12 (OR = 1.31, P = 0.04) and IL1α (OR = 2.16, P = 0.034). Protective haplotypes were seen in IL2 (OR = .69, P = 0.008) and IL1β (OR = 0.75, P = 0.02). One rare haplotype in the FVIII gene increased the risk of inhibitor development by nearly fourfold (OR = 3.8, P = 0.004). We replicate previous findings for IL10; identify new associations with IL1, IL2 and IL12; and identify a rare FVIII haplotype in caucasians that is associated with increased inhibitor risk.
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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.