Association between IL-21 gene rs907715 polymorphisms and Graves' disease in a Southern Chinese population

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 (SNP...

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Bibliographic Details
Published in:Experimental and therapeutic medicine 2014-07, Vol.8 (1), p.213-218
Main Authors: ZENG, HUA, YAN, HAIYAN, ZHANG, ZHIXIAN, FANG, WEIZHEN, DING, RUI, HUANG, LISI, CHEN, MEI, ZHANG, JIN
Format: Article
Language:English
Subjects:
Age
Autoimmune diseases
Confidence intervals
Cytokines
Deoxyribonucleic acid
Development and progression
DNA
Families & family life
Family medical history
gene polymorphisms
Genetic aspects
Genetic polymorphisms
Genotype & phenotype
Graves' disease
Health aspects
Hormones
Interleukin-21
Lymphocytes
Thyroid diseases
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Summary: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=6.7×10−3 and P=2.0×10−5, 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=4.0×10−5). 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.
ISSN:1792-0981
1792-1015
DOI:10.3892/etm.2014.1707