Chen Wei-Chiao, Wei James Cheng-Chung, Lu Hsing-Fang, Wong Henry Sung-Ching, Woon Peng Yeong, Hsu Yu-Wen, Huang Jin-Ding, Chang Wei-Chiao
Institude of Clinical Pharmacy and Pharmaceutical Sciences, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan.
Division of Allergy, Immunology and Rheumatology, Chung Shan Medical University Hospital, Taichung 40201, Taiwan.
Int J Mol Sci. 2017 Jan 3;18(1):83. doi: 10.3390/ijms18010083.
Ankylosing spondylitis (AS) is a systemic autoimmune disease mainly affecting the lumbar spine and sacroiliac joints, and exhibits peripheral inflammatory arthropathy. More than 25 loci have been identified as associated with AS. Because both AS and rheumatoid arthritis (RA) are autoimmune diseases that may share some common genetic factors, we therefore examined if the newly identified RA genetic polymorphisms were associated with AS in a Taiwanese population. In this study, we enrolled 475 AS patients and 11,301 healthy subjects from a Taiwanese biobank as controls. Although none of single-nucleotide polymorphisms (SNPs) were associated with the susceptibility to AS, the AS disease index Bath AS Global (BAS-G) clinical phenotype was observed as significantly correlated to the AA genotype of rs657075 (). The significance remains after gender/age/disease duration adjustment and after group categorization by () genotype. We further investigated the possible functions of rs657075 through bioinformatics approaches. Results revealed that polymorphism of rs657075 is able to influence the expression of acyl-CoA synthetase long-chain family member 6 (). In conclusion, our study indicated that rs657075 () is strongly associated with the AS disease index Bath AS Global (BAS-G) clinical phenotype.
强直性脊柱炎（AS）是一种主要影响腰椎和骶髂关节的全身性自身免疫性疾病，并表现为外周炎性关节病。已确定超过25个基因座与AS相关。由于AS和类风湿性关节炎（RA）都是自身免疫性疾病，可能共享一些共同的遗传因素，因此我们研究了新发现的RA基因多态性是否与台湾人群中的AS相关。在本研究中，我们从台湾生物样本库中招募了475例AS患者和11301名健康受试者作为对照。虽然单核苷酸多态性（SNP）均与AS易感性无关，但观察到强直性脊柱炎巴斯全球疾病指数（BAS - G）临床表型与rs657075的AA基因型显著相关（）。在调整性别/年龄/病程后以及按（）基因型进行分组后，该显著性仍然存在。我们通过生物信息学方法进一步研究了rs657075的可能功能。结果显示，rs657075的多态性能够影响酰基辅酶A合成酶长链家族成员6（）的表达。总之，我们的研究表明，rs657075（）与强直性脊柱炎巴斯全球疾病指数（BAS - G）临床表型密切相关。
