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


METHODS
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).


RESULTS
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).


CONCLUSIONS
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.
Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, No. 277 West Yanta Road, Xi'an, 710061, China.
Yu
Y
Wang
Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, No. 277 West Yanta Road, Xi'an, 710061, China.
Yuan-feng
YF
Zhu
Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, No. 277 West Yanta Road, Xi'an, 710061, China.
Qiong
Q
Wang
Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, No. 277 West Yanta Road, Xi'an, 710061, China.
Jing
J
Xu
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, , Jinshan District, Shanghai, 201508, China.
Ni
N
Yan
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, , Jinshan District, Shanghai, 201508, China.
Jian
J
Xu
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, , Jinshan District, Shanghai, 201508, China.
Liang-feng
LF
Shi
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, , Jinshan District, Shanghai, 201508, China.
Shuang-tao
ST
He
Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, , Jinshan District, Shanghai, 201508, China. zhangjinan@hotmail.com.
Jin-an
JA
Zhang
D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D050031:Hashimoto Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D044763:Ubiquitin-Conjugating Enzymes / Q000235:genetics*
C079437:UBE2L3 protein, human; D044763:Ubiquitin-Conjugating Enzymes
Autoimmune thyroid disease (AITDs); Graves’ disease (GD); Hashimoto’s thyroiditis (HT); Single-nucleotide polymorphism (SNP); Ubiquitin conjugating enzyme E2L3 (UBE2L3)