Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.

ABSTRACT:

Introduction

Inhibitor 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.

Aim

To identify novel genetic risk factors associated with inhibitor development in coding regions of R3HDM1, UBXN4, CXCR4, MCM6, DARS and miR128-1 genes.

Methods

Targeted sequencing was performed in 246 severe HA patients (72 with and 174 without inhibitor): 181 previously and 65 newly enrolled.

Results

SUBMITTER: Spena S 

PROVIDER: S-EPMC9306754 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature