Wang Yu, Zhu Yuan-feng, Wang Qiong, Xu Jing, Yan Ni, Xu Jian, Shi Liang-feng, He Shuang-tao, Zhang Jin-an
Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, No. 277 West Yanta Road, Xi'an, 710061, China.
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, , Jinshan District, Shanghai, 201508, China.
BMC Endocr Disord. 2016 Apr 19;16:18. doi: 10.1186/s12902-016-0098-6.
The ubiquitin conjugating enzyme E2L3 (UBE2L3) gene is associated with susceptibility to many autoimmune diseases. The aim of this study was to investigate the association between UBE2L3 gene and autoimmune thyroid diseases (AITDs) and their clinical phenotypes.
We genotyped five single-nucleotide polymorphisms (SNPs) rs131654, rs5754217, rs2298428, rs140489 and rs5998672 of UBE2L3 gene in case groups including 1028 patients with AITDs [676 cases of Graves' disease (GD) and 352 cases of Hashimoto's thyroiditis (HT)] and control group including 897 healthy individuals. The genotyping was performed with the method of polymerase chain reaction-ligase detection reaction (PCR-LDR).
The frequencies of allele and genotype of five SNPs in gene UBE2L3 showed no statistically significant difference between case groups and control group, respectively. Moreover, no significant differences in frequencies of allele and genotype of five SNPs of the gene were found between clinical subphenotypes of AITDs and control group. Such subphenotypes included GD, HT, and thyroid associated ophthalmopathy (TAO). The negative results were also found in the frequency of other haplotypes of the gene except the haplotype of TCGGC, which was significantly higher in HT group than in control group (P = 0.031, OR = 1.441).
The present findings indicate that TCGGC haplotype is associated with an increased risk of HT and UBE2L3 gene is likely to be a susceptibility factor to HT in a Chinese Han population.
泛素结合酶E2L3（UBE2L3）基因与多种自身免疫性疾病的易感性相关。本研究旨在探讨UBE2L3基因与自身免疫性甲状腺疾病（AITD）及其临床表型之间的关联。
我们对1028例AITD患者（676例格雷夫斯病（GD）和352例桥本甲状腺炎（HT））的病例组以及897名健康个体的对照组进行了UBE2L3基因的5个单核苷酸多态性（SNP）rs131654、rs5754217、rs2298428、rs140489和rs5998672的基因分型。采用聚合酶链反应-连接酶检测反应（PCR-LDR）方法进行基因分型。
UBE2L3基因5个SNP的等位基因和基因型频率在病例组和对照组之间分别无统计学显著差异。此外，AITD的临床亚表型与对照组之间在该基因5个SNP的等位基因和基因型频率上也未发现显著差异。这些亚表型包括GD、HT和甲状腺相关眼病（TAO）。除TCGGC单倍型外，该基因其他单倍型频率的检测结果也为阴性，TCGGC单倍型在HT组中的频率显著高于对照组（P = 0.031，OR = 1.441）。
目前的研究结果表明，TCGGC单倍型与HT风险增加相关，UBE2L3基因可能是中国汉族人群HT的一个易感因素。
