ArticleHaemophilia : the official journal of the World Federation of Hemophilia2022
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.
Article in Haemophilia : the official journal of the World Federation of Hemophilia, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Astral-DIA proteomics and 4D label-free N-glycoproteomics of milk fat globule membrane proteins reveal distinct profiles between yak colostrum and mature milk.Food chemistry: X · 2025Article
- 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
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8 authors at 2 institutions in 2 countries.
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Abstract
introductionInhibitor development affects about 30% of patients with severe haemophilia A (HA) and results from different environmental and genetic risk factors. Previously, we identified the missense variant rs3754689 in the LCT gene linked with this predisposition. Since rs3754689 variant is benign and is located in a conserved haplotype region, we hypothesized that the association signal captured by this variant is located in coinherited, neighbouring genes.
aimTo identify novel genetic risk factors associated with inhibitor development in coding regions of R3HDM1, UBXN4, CXCR4, MCM6, DARS and miR128-1 genes.
methodsTargeted sequencing was performed in 246 severe HA patients (72 with and 174 without inhibitor): 181 previously and 65 newly enrolled.
resultsForty-one common and 152 rare variants passed the quality control. Logistic regression analysis of common variants identified rs3754689 and four additional variants (.011 < P < .047; FDR ranging .2-.38). Logistic regression analysis performed only in the 220 Italian patients showed similar results (.004 < P < .05; FDR ranging .12-.22). Three of these variants (rs3213892 and rs3816155 in the LCT intron 13 and rs961360 in the R3HDM1 intron10-exon11 junction) may affect the expression of UBXN4 and R3HDM1, respectively. Rare variants did not show association with inhibitor development. Identified variants were not replicated in the multi-ethnic SIPPET cohort of 230 severe HA patients.
conclusionDue to the limited sample size that may be responsible of the high FDR values, we could not confirm with certainty the analysed association. Further evaluation of the expression levels of analysed genes will confirm or not their role in inhibitor development.
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