Disease Association of the CD103 Polymorphisms in Taiwan Chinese Graves' Ophthalmopathy Patients

作者：Liu Yu Huei; Chen Rong Hsing; Chen Wen Chi; Tsai Yuhsin; Wan Lei; Tsai Fuu Jen^*

来源：Ophthalmology, 2010, 117(8): 1645-1651.

DOI：10.1016/j.ophtha.2009.12.037

Objective: To evaluate whether variations in the CD103 gene could be associated with Graves' ophthalmopathy (GO) in patients with Graves' disease.
Design: Case-control study.
Participants: A total of 484 Chinese patients with Graves' disease in Taiwan, including 203 patients with GO and 281 patients without GO, were enrolled.
Methods: Five single nucleotide polymorphisms (SNPs) in CD103 were genotyped using an assay-on-demand allelic discrimination assay and detection system according to the manufacturer's instructions.
Main Outcome Measures: Association of SNPs in CD103 with the development of GO.
Results: The CD103 SNP rs11652878 was associated with GO, which may decrease the risk of GO by 1.57-fold (P = 0.029). The Ht5-GCGCG haplotype, composed of 5 SNPs in the CD103 gene (rs1716, rs3744679, rs11652878, rs16953477, and rs9905739), were protective haplotypes (P = 0.010). Moreover, the heterozygous genotype (Ht5/non-Ht5) was correlated with a reduced risk of GO and high grades of goiter as compared with the non-Ht5/non-Ht5 genotype (P = 0.006 and P = 0.048, respectively). Logistic analysis confirmed the contribution of CD103 rs11652878 to the protection of GO.
Conclusions: These data suggest that patients with Graves' disease in the presence of the G allele of SNP rs11652878, especially Ht5-GCGCG, in CD103 are less susceptible toward the development of GO.

• 出版日期2010-8
• 单位中国医科大学