Wu Yuqing, Cai Tiantian, Xu Wenyu, Yang Xiaorong, Gu Peili, Zhang Jinan
Department of Endocrinology & Rheumatology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai 201318, China; Graduate School, Shanghai University of Traditional Chinese Medicine, Shanghai 201203, China.
Department of Endocrinology & Rheumatology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai 201318, China.
Hum Immunol. 2024 Nov;85(6):111165. doi: 10.1016/j.humimm.2024.111165. Epub 2024 Oct 25.
Recent studies have confirmed that B cell-related genes CD20 and FCRL5 may be involved in the pathogenesis of autoimmune thyroid diseases (AITDs). However, there is a lack of comprehensive genetic susceptibility studies on this subject.
The purpose of this study was to investigate the relationship of CD20 and FCRL5 gene polymorphisms with AITD susceptibility.
A total of 1740 subjects were recruited from the Chinese Han population. They consisted of 1007 patients with AITD and 633 healthy controls. Multiplex polymerase chain reaction (PCR) combined with high-throughput sequencing was used to genotype four screened single nucleotide polymorphisms (SNPs). The four SNPs were rs7126354 of CD20 and rs6667109, rs6692977 and rs3811035 of FCRL5.
The minor allele frequency of rs7126354 was significantly lower in patients with AITD and Hashimoto's thyroiditis (HT) than in healthy controls (P = 0.031; P = 0.017). The minor allele frequency of rs6667109 was significantly higher in the Graves' disease (GD) subgroup than in the healthy control group (P = 0.029). In the Log-additive model, rs6667109 in the GD group also showed an increased risk of onset disease.
This study presents robust evidence of a genetic association of CD20 and FCRL5 with AITDs. The C allele of CD20 rs7126354 is a protective factor for HT susceptibility. The A allele of FCRL5 rs6667109 is a risk factor for the susceptibility to GD.
近期研究证实，B细胞相关基因CD20和FCRL5可能参与自身免疫性甲状腺疾病（AITD）的发病机制。然而，目前缺乏关于该主题的全面遗传易感性研究。
本研究旨在探讨CD20和FCRL5基因多态性与AITD易感性的关系。
从中国汉族人群中招募了1740名受试者。其中包括1007例AITD患者和633名健康对照。采用多重聚合酶链反应（PCR）结合高通量测序技术对筛选出的4个单核苷酸多态性（SNP）进行基因分型。这4个SNP分别为CD20的rs7126354以及FCRL5的rs6667109、rs6692977和rs3811035。
AITD患者和桥本甲状腺炎（HT）患者中rs7126354的次要等位基因频率显著低于健康对照（P = 0.031；P = 0.017）。Graves病（GD）亚组中rs6667109的次要等位基因频率显著高于健康对照组（P = 0.029）。在Log-加性模型中，GD组的rs6667109也显示出发病风险增加。
本研究提供了CD20和FCRL5与AITD存在遗传关联的有力证据。CD20 rs7126354的C等位基因是HT易感性的保护因素。FCRL5 rs6667109的A等位基因是GD易感性的危险因素。
