Yang Xinglin, Li Ming, Wang Liya, Hu Zhongdan, Zhang Yuanchao, Yang Qingrui
Department of Rheumatology and Immunology, Provincial Hospital affiliated to Shandong University, No. 324 Jingwuweiqi Road, Jinan, Shandong, 250021, People's Republic of China.
Clin Rheumatol. 2015 Oct;34(10):1729-36. doi: 10.1007/s10067-014-2761-5. Epub 2014 Aug 23.
Previous studies have found that the kinesin family member (KIF) 21B may contribute to the autoimmune disease process. It has been reported that the KIF21B gene is relevant to the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC). We hypothesized that KIF21B might be a key gene for ankylosing spondylitis (AS) development. To test this hypothesis, 11 tag single nucleotide polymorphisms (SNPs) covering KIF21B were investigated in 904 Chinese (Han ethnic) patients of Shandong Province with AS and 898 age- and sex-matched controls of the same ethnic origin. The T allele of rs756254 was linked to increased risk of AS (P = 0.022). The AA genotype of rs296560 and TT and AT genotypes of rs756254 were also relevant with AS (P = 0.044, P = 0.033, and P = 0.033, respectively). Haplotype analysis identified that the KIF21B gene region contains two haplotype blocks of eight and two SNPs, respectively. The haplotype GCGGTAAA in block 1 appeared to reduce the risk of AS (P = 0.005), while the haplotype AA in block 2 was significantly associated with an increased risk of AS (P = 0.039). There were no significant differences between the AS patients and the controls in polymorphisms of rs10920091, rs3198583, rs56368827, rs3738255, rs296565, rs12087649, rs12568529, rs7536000, and rs957957. These results indicated that KIF21B was associated with AS in a Chinese population of Shandong Province.
先前的研究发现，驱动蛋白家族成员（KIF）21B可能参与自身免疫性疾病进程。据报道，KIF21B基因与克罗恩病（CD）和溃疡性结肠炎（UC）的发病机制相关。我们推测KIF21B可能是强直性脊柱炎（AS）发展的关键基因。为验证这一假设，我们在904名山东省汉族AS患者以及898名年龄和性别匹配的同民族对照者中，对覆盖KIF21B的11个标签单核苷酸多态性（SNP）进行了研究。rs756254的T等位基因与AS风险增加相关（P = 0.022）。rs296560的AA基因型以及rs756254的TT和AT基因型也与AS相关（分别为P = 0.044、P = 0.033和P = 0.033）。单倍型分析表明，KIF21B基因区域分别包含两个单倍型模块，一个由8个SNP组成，另一个由2个SNP组成。模块1中的单倍型GCGGTAAA似乎可降低AS风险（P = 0.005），而模块2中的单倍型AA与AS风险增加显著相关（P = 0.039）。rs10920091、rs3198583、rs56368827、rs3738255、rs296565、rs12087649、rs12568529、rs7536000和rs957957的多态性在AS患者和对照者之间无显著差异。这些结果表明，在山东省汉族人群中，KIF21B与AS相关。
