Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Department of Advanced Medicine for Ocular Diseases, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ocul Immunol Inflamm. 2024 May;32(4):447-453. doi: 10.1080/09273948.2023.2173239. Epub 2023 Feb 22.
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.
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 .
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.
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.
研究编码酪氨酸激酶受体家族蛋白配体的 和 多态性是否与日本人群中的贝赫切特病（BD）有关。
我们招募了 734 名日本 BD 患者和 1789 名日本健康对照者。在所有参与者中，我们对两个据报道与 BD 相关的单核苷酸多态性（SNP）进行了基因分型： 中的 rs9577873 和 中的 rs4857037。
我们发现 rs9577873 与 BD 无显著相关性。相比之下， 中的 rs4857037，特别是 A 等位基因，与 BD 的发病风险增加相关。在加性和隐性遗传模型下，A 等位基因也与 BD 显著相关。表达分析显示，该等位基因与 表达增加显著相关。
我们的研究结果表明，与 rs4857037 的 A 风险等位基因相关的 表达增加可能影响酪氨酸激酶受体信号转导，导致 BD 的发生。
