Zeng Hua, Yan Haiyan, Zhang Zhixian, Fang Weizhen, Ding Rui, Huang Lisi, Chen Mei, Zhang Jin
Department of Clinical Laboratory, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510120, P.R. China.
Department of Endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510120, P.R. China.
Exp Ther Med. 2014 Jul;8(1):213-218. doi: 10.3892/etm.2014.1707. Epub 2014 May 12.
Interleukin-21 (IL-21) is a pleiotropic cytokine linking innate and adaptive immune responses, which has been reported to play a key role in multiple autoimmune diseases. The aim of the present case-control study was to investigate the genetic association between single nucleotide polymorphisms (SNPs) of rs907715 within the IL-21 gene and Graves' disease (GD) in a Southern Chinese population. A total of 211 patients with GD and 212 control subjects were recruited for the study. IL-21 gene rs907715 polymorphisms were detected by direct DNA sequencing. The results indicated that the frequencies of the GG genotype and the G allele in GD patients were significantly increased when compared with the frequencies in the controls (P=6.7×10 and P=2.0×10, respectively). In addition, the frequency of the AA genotype was much lower in the patient group when compared with the control group (16.6 vs. 34.0%; P=4.0×10). Furthermore, the G allele of rs907715 was associated with relapse in GD patients. These observations indicated that polymorphisms of IL-21/rs907715 may affect the susceptibility to GD in a Southern Chinese population. The G allele was significantly associated with an increased risk of GD development, whereas the A allele may lower the susceptibility to GD.
白细胞介素-21（IL-21）是一种连接先天性和适应性免疫反应的多效性细胞因子，据报道在多种自身免疫性疾病中起关键作用。本病例对照研究的目的是调查中国南方人群中IL-21基因内单核苷酸多态性（SNP）rs907715与格雷夫斯病（GD）之间的遗传关联。共招募了211例GD患者和212例对照受试者进行研究。通过直接DNA测序检测IL-21基因rs907715多态性。结果表明，与对照组相比，GD患者中GG基因型和G等位基因的频率显著增加（分别为P = 6.7×10和P = 2.0×10）。此外，与对照组相比，患者组中AA基因型的频率要低得多（16.6%对34.0%；P = 4.0×10）。此外，rs907715的G等位基因与GD患者的复发有关。这些观察结果表明，IL-21/rs907715的多态性可能影响中国南方人群对GD的易感性。G等位基因与GD发生风险增加显著相关，而A等位基因可能降低对GD的易感性。
