AI Article Synopsis
- The study aimed to explore the relationship between certain genetic variations (polymorphisms) and Behçet's disease (BD) in a Japanese population.
- Researchers recruited 734 patients with BD and 1789 healthy controls to analyze two specific genetic markers, finding that one (rs9577873) had no significant correlation with BD, while the other (rs4857037) showed an increased risk linked to the A allele.
- The results suggest that higher expression levels related to the A allele of rs4857037 may influence tyrosine kinase receptor signaling, potentially contributing to the development of BD.
Article Abstract
Purpose: To investigate whether polymorphisms of and , which each encode protein ligands for a family of tyrosine kinase receptors, are associated with Behçet's disease (BD) in a Japanese population.
Methods: We recruited 734 Japanese patients with BD and 1789 Japanese healthy controls. In all participants, we genotyped two single-nucleotide polymorphisms (SNPs) reportedly associated with BD: rs9577873 in and rs4857037 in .
Results: We found that rs9577873 was not significantly associated with BD. In contrast, rs4857037, specifically the A allele, was associated with increased risk for BD. The A allele was also significantly associated with BD under additive and recessive genetic models. Expression analysis revealed that this allele was significantly associated with increased expression.
Conclusions: Our findings suggest that increased expression related to the A risk allele of rs4857037 affects tyrosine kinase receptor signaling, contributing to the development of BD.
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| http://dx.doi.org/10.1080/09273948.2023.2173239 | DOI Listing |
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