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Investigation of the Correlation between Graves’ Ophthalmopathy and CTLA4 Gene Polymorphism

1
Department of Laboratory Medicine, Chang Gung Memorial Hospital at Linkou, Taoyuan 33305, Taiwan
2
Graduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan
3
Medical Biotechnology and Laboratory Science, Chang Gung University, Taoyuan 33302, Taiwan
4
Department of ophthalmology, Chang Gung Memorial Hospital at Linkou, Taoyuan 33305, Taiwan
5
Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan
6
Department of Life Science, Fu Jen University, Taipei 24205, Taiwan
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
J. Clin. Med. 2019, 8(11), 1842; https://doi.org/10.3390/jcm8111842
Received: 9 October 2019 / Revised: 25 October 2019 / Accepted: 26 October 2019 / Published: 2 November 2019
(This article belongs to the Section Immunology)
Graves’ disease (GD) is an autoimmune inflammatory disease, and Graves’ ophthalmopathy (GO) occurs in 25–50% of patients with GD. Several susceptible genes were identified to be associated with GO in some genetic analysis studies, including the immune regulatory gene CTLA4. We aimed to find out the correlation of CTLA4 gene polymorphism and GO. A total of 42 participants were enrolled in this study, consisting of 22 patients with GO and 20 healthy controls. Chi-square or Fisher’s exact test were used to appraise the association between Graves’ ophthalmopathy and CTLA4 single nucleotide polymorphisms (SNPs). All regions of CTLA4 including promoter, exon and 3’UTR were investigated. There was no nucleotide substitution in exon 2 and exon 3 of CTLA4 region, and the allele frequencies of CTLA4 polymorphisms had no significant difference between patients with GO and controls. However, the genotype frequency of “TT” genotype in rs733618 significantly differed between patients with GO and healthy controls (OR = 0.421, 95%CI: 0.290–0.611, p = 0.043), and the “CC” and “CT” genotype in rs16840252 were nearly significantly differed in genotype frequency (p = 0.052). Haplotype analysis showed that CTLA4 Crs733618Crs16840252 might increase the risk of GO (OR = 2.375, 95%CI: 1.636–3.448, p = 0.043). In conclusion, CTLA4 Crs733618Crs16840252 was found to be a potential marker for GO, and these haplotypes would be ethnicity-specific. Clinical application of CTLA4 Crs733618Crs16840252 in predicting GO in GD patients may be beneficial. View Full-Text
Keywords: Graves’ disease; Graves’ ophthalmopathy; CTLA4; gene polymorphism Graves’ disease; Graves’ ophthalmopathy; CTLA4; gene polymorphism
MDPI and ACS Style

Chen, D.-P.; Chu, Y.-C.; Wen, Y.-H.; Lin, W.-T.; Hour, A.-L.; Wang, W.-T. Investigation of the Correlation between Graves’ Ophthalmopathy and CTLA4 Gene Polymorphism. J. Clin. Med. 2019, 8, 1842.

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