遗传易感性与早期蕈样肉芽肿：研究组织驻留记忆 T 细胞基因中的遗传多态性。
Genetic predisposition to early mycosis fungoides: investigating genetic polymorphisms in tissue-resident memory T-cell genes.
机构信息
Department of Dermatology, The University of Jordan, Amman, Jordan.
Department of Health Data Analysis, Electronic Health Solution, Amman, Jordan.
出版信息
J Int Med Res. 2024 Mar;52(3):3000605241239034. doi: 10.1177/03000605241239034.
OBJECTIVES
Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma; it arises from tissue-resident memory T-cells (T). In the present study, we investigated potential functional genetic variations that may predispose MF development.
METHODS
A case-control study was conducted using whole-exome sequencing, with a focus on genes that are essential to T function.
RESULTS
We included 21 patients and 19 healthy subjects in the study. Single nucleotide polymorphisms in the following genes were significantly more common in patients than in healthy subjects: , , , and . Moreover, the number of patients carrying single nucleotide polymorphisms in , , and was significantly greater in the patient group than in the control group.
CONCLUSIONS
The presence of genetic variations in one or more T functional gene may predispose patients to develop MF. Further studies involving a larger patient population and a comparative analysis of protein expression will be necessary to validate these findings.
目的
蕈样肉芽肿（MF）是最常见的皮肤 T 细胞淋巴瘤，起源于组织驻留记忆 T 细胞（T）。本研究旨在探讨可能导致 MF 发生的潜在功能遗传变异。
方法
采用全外显子组测序进行病例对照研究，重点关注对 T 细胞功能至关重要的基因。
结果
本研究纳入 21 例患者和 19 例健康对照者。与健康对照者相比，患者中存在以下基因单核苷酸多态性的比例显著更高： 、 、 、 。此外，患者中携带 、 、 单核苷酸多态性的数量显著多于对照组。
结论
一个或多个 T 功能基因的遗传变异可能使患者易患 MF。需要进一步开展涉及更大患者群体的研究，并对蛋白表达进行比较分析，以验证这些发现。
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