Liu Jun, Lian Zijian, Xiao Yu, Shi Lewis L, Chai Wei, Wang Yan
1 Department of Orthopedics, Tianjin Hospital , Tianjin, China .
Genet Test Mol Biomarkers. 2015 Jan;19(1):37-43. doi: 10.1089/gtmb.2014.0194.
Ankylosing spondylitis (AS) is a genetically determined disease. Runt-related transcription factor 3 (RUNX3), tumor necrosis factor family member-associated NF-κB activator binding kinase 1 binding protein (TBKBP1), and peroxisome proliferator-activated receptor-gamma coactivator 1 beta (PPARGC1B) have recently been found to be associated with susceptibility to AS in patients of Western European descent. We hypothesize that these three genes may be related to clinical outcomes of Chinese Han AS patients.
Blood samples were drawn from 396 HLA-B27-positive Chinese Han AS patients. Clinical indexes were scored for each patient, including the Bath Ankylosing Spondylitis Functional Index (BASFI), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and modified Stoke Ankylosing Spondylitis Spine Score (mSASSS), which measure patients' function of daily life and severity of AS. Twelve tagSNPs were selected from these three genes and genotyped. We analyzed the clinical indexes in different genotyped patients to investigate the relationship between severity of AS and different genotypes.
The rs11249215 SNP in RUNX3 and the rs7379457 and rs32579 SNPs in PPARGC1B significantly affect the BASFI score in patients. The rs11249215, rs7551188, and rs1395621 SNPs in RUNX3 significantly affect the BASDAI scores. The two selected single nucleotide polymorphisms (SNPs) in TBKBP1 show no relationship with the clinical outcomes. None of the 12 SNPs is related to mSASSS. In conclusion, RUNX3 is related to both the severity of AS and the function of daily life. PPARGC1B is related to the function of daily life.
强直性脊柱炎（AS）是一种由基因决定的疾病。近期研究发现，与 runt 相关的转录因子 3（RUNX3）、肿瘤坏死因子家族成员相关的核因子κB 激活激酶 1 结合蛋白（TBKBP1）以及过氧化物酶体增殖物激活受体γ共激活因子 1β（PPARGC1B）与西欧血统患者的 AS 易感性相关。我们推测这三个基因可能与中国汉族 AS 患者的临床结局有关。
采集 396 例 HLA - B27 阳性的中国汉族 AS 患者的血液样本。对每位患者的临床指标进行评分，包括巴斯强直性脊柱炎功能指数（BASFI）、巴斯强直性脊柱炎疾病活动指数（BASDAI）以及改良斯托克强直性脊柱炎脊柱评分（mSASSS），这些指标用于衡量患者的日常生活功能和 AS 的严重程度。从这三个基因中选择 12 个标签单核苷酸多态性（tagSNP）进行基因分型。我们分析不同基因分型患者的临床指标，以研究 AS 严重程度与不同基因型之间的关系。
RUNX3 基因中的 rs11249215 单核苷酸多态性（SNP）以及 PPARGC1B 基因中的 rs7379457 和 rs32579 SNP 显著影响患者的 BASFI 评分。RUNX3 基因中的 rs11249215、rs7551188 和 rs1395621 SNP 显著影响 BASDAI 评分。TBKBP1 基因中所选的两个单核苷酸多态性（SNP）与临床结局无关。12 个 SNP 均与 mSASSS 无关。总之，RUNX3 基因与 AS 的严重程度和日常生活功能均相关。PPARGC1B 基因与日常生活功能相关。
