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泰国弥漫性和局限性皮肤系统性硬化症患者的 HLA 关联

HLA Association among Thai Patients with Diffuse and Limited Cutaneous Systemic Sclerosis.

作者信息

Louthrenoo Worawit, Kasitanon Nuntana, Wongthanee Antika, Okudaira Yuko, Takeuchi Asuka, Noguchi Hiroshi, Inoko Hidetoshi, Takeuchi Fujio

机构信息

Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

出版信息

Biomedicines. 2024 Jun 18;12(6):1347. doi: 10.3390/biomedicines12061347.

DOI:10.3390/biomedicines12061347
PMID:38927554
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11201995/
Abstract

This study aimed to clarify the association of HLA Class I and II with dcSSc and lcSSc in Thais. HLA typing for 11 gene loci (Class I: HLA-A, B and C, and Class II [HLA-DR, DP and DQ]) was carried out using the Next Generation DNA Sequencing method (three fields) in 92 Thai patients with systemic sclerosis (55 dcSSc, 37 lcSSc) and 135 healthy controls (HCs). The distribution of HLA alleles in patients with dcSSc and lcSSc was compared. When compared with HCs, the AF of , , and showed an increasing trend in lcSSc patients without statistical significance. , , , , and increased significantly in dcSSc patients. and also increased significantly in lcSSc patients, but less significantly than in dcSSc patients. The association of with lcSSc was significantly protective. , and formed a three-locus haplotype that also constituted an eight-locus haplotype with , , , and . There was a possibility that HLA Class I would play a role in the pathogenesis of lcSSc, while Class II played more of a role in the dcSSc in Thai patients.

摘要

本研究旨在阐明泰国人中HLA I类和II类与弥漫性皮肤型系统性硬化症(dcSSc)和局限性皮肤型系统性硬化症(lcSSc)的关联。采用新一代DNA测序方法(三个区域)对92例泰国系统性硬化症患者(55例dcSSc,37例lcSSc)和135名健康对照者(HCs)进行了11个基因位点的HLA分型(I类:HLA-A、B和C,II类:HLA-DR、DP和DQ)。比较了dcSSc和lcSSc患者中HLA等位基因的分布。与HCs相比,lcSSc患者中 、 、 和 的等位基因频率(AF)呈上升趋势,但无统计学意义。dcSSc患者中 、 、 、 、 和 显著增加。 和 在lcSSc患者中也显著增加,但增幅小于dcSSc患者。 与lcSSc的关联具有显著的保护作用。 、 和 形成了一个三位点单倍型,该单倍型还与 、 、 和 构成了一个八位点单倍型。在泰国患者中,HLA I类可能在lcSSc的发病机制中起作用,而II类在dcSSc中起的作用更大。