The haplotype of UBE2L3 gene is associated with Hashimoto's thyroiditis in a Chinese Han population.

Yu Wang,Liang-Feng Shi,Jian Xu,Qiong Wang,Yuan-Feng Zhu,Ni Yan,Shuang-Tao He,Jing Xu,Jin-An Zhang

doi:10.1186/s12902-016-0098-6

Abstract

BackgroundThe 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.MethodsWe 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).ResultsThe 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).ConclusionsThe 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s12902-016-0098-6) contains supplementary material, which is available to authorized users.

Highlights

The ubiquitin conjugating enzyme E2L3 (UBE2L3) gene is associated with susceptibility to many autoimmune diseases
Allele and genotype frequency distribution There were no differences in allele or genotype frequency distribution in any Single-nucleotide polymorphism (SNP) between patients (GD and Hashimoto’s thyroiditis (HT)) and control group (Additional file 1: Table S2)
The same results were found in subphenotypes such as Graves’ disease (GD) patients with ophthalmopathy, family history and different thyroid function of HT patients

Summary

Introduction

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. Autoimmune thyroid diseases (AITDs) are a set of organ specific endocrine autoimmune diseases mediated by T lymphocyte. They mainly consist of Graves’ disease (GD), Hashimoto’s thyroiditis (HT), and thyroid associated ophthalmopathy (TAO). Ubiquintin proteasome pathway (UPP) is an important signal transduction system which involves many physiological processes In this pathway, UBE2L3 is an ubiquitin conjugating enzyme (E2) participating in ubiquitination of substrate through sequential steps catalyzed together with activating (E1) and ligase (E3) enzymes, and exerts its degradation effects on targeting molecules [8]. These targeting molecules encompass p53 [9], c-Fos [10] and

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