Abstract |
Graves' disease (GD) is an organ-specific autoimmune thyroid disease; 25-50% of GD patients will develop Graves' ophthalmopathy (GO). The etiology of GD and GO may be multifactorial, but the immune response plays a central role. Many studies have reported that IL-21 has crucial roles in autoimmune diseases. We examined whether IL-21 is associated with the development of GD and GO. The serum concentration of IL-21 was tested in 40 primary GD patients, 42 treated GO patients and 24 healthy controls. Our data show that the serum level of IL-21 is associated with the development of GD. We also made an association study with the IL-21 gene polymorphisms rs4833837, rs907715 and rs13143866 in a comparison of 633 patients and 612 healthy controls from the Chinese population. This case-control association study demonstrated that rs907715 SNP is significantly associated with GD, while the rs13143866 A allele is significantly associated with GO. The haplotypes A-G-G and A-A-A were found at higher and lower frequencies, respectively, in GD patients, suggesting a protective role for A-A-A. However, there were no significant differences in the frequencies of these haplotypes between the GO patients and the control group. We found no association between IL-21 gene polymorphisms and the age of GD onset. We conclude that IL-21 is associated with GD and GO.
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Authors | H Y Jia, Z G Zhang, X J Gu, T Guo, B Cui, G Ning, Y J Zhao |
Journal | Genetics and molecular research : GMR
(Genet Mol Res)
Vol. 10
Issue 4
Pg. 3338-46
(Oct 31 2011)
ISSN: 1676-5680 [Electronic] Brazil |
PMID | 22057994
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Genetic Markers
- Interleukins
- interleukin-21
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Topics |
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Case-Control Studies
- Child
- China
(epidemiology)
- Female
- Genetic Association Studies
- Genetic Markers
- Genetic Predisposition to Disease
- Graves Disease
(epidemiology, genetics)
- Graves Ophthalmopathy
(genetics)
- Haplotypes
(genetics)
- Humans
- Interleukins
(blood, genetics)
- Male
- Middle Aged
- Polymorphism, Single Nucleotide
(genetics)
- Young Adult
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