中国组织工程研究

中国组织工程研究 ›› 2019, Vol. 23 ›› Issue (23): 3710-3715.doi: 10.3969/j.issn.2095-4344.1318

• 组织构建细胞学实验 cytology experiments in tissue construction • 上一篇    下一篇

强直性脊柱炎早发髋关节强直与HLA-B27基因亚型的易感性研究

熊春翔1，2，卫小春3，尹  东2，黄  宇2, 杜  畅2，莫冰峰2   

  1. (1广西壮族自治区人民医院博士后科研工作站和山西医科大学临床医学博士后科研流动站联合培养，广西壮族自治区南宁市  530021；2广西壮族自治区人民医院骨科，广西壮族自治区南宁市  530021；3山西医科大学第二医院骨科，骨与软组织损伤与修复山西省重点实验室，山西省太原市  030001)
  • 收稿日期:2019-03-07 出版日期:2019-08-18 发布日期:2019-08-18
  • 通讯作者: 尹东，博士，硕士生导师，博士后合作导师，主任医师，广西壮族自治区人民医院骨科，广西壮族自治区南宁市 530021
  • 作者简介:熊春翔，男，1986年生，福建省建瓯市人，汉族，2014年广西医科大学毕业，博士，博士后，主治医师，主要从事骨科的研究。
  • 基金资助:

    广西重点研发计划(桂科AB16380230)，项目负责人：尹东；广西自然科学基金(桂科基2015GXNSFAA139200)，项目负责人：尹东；广西医药卫生自筹经费计划课题(Z2016609)，项目负责人：熊春翔

Susceptibility of ankylosing spondylitis early-onset hip ankylosis and human leukocyte antigen-B27 subtypes 

Xiong Chunxiang1, 2, Wei Xiaochun3, Yin Dong2, Huang Yu2, Du Chang2, Mo Bingfeng2   

  • Received:2019-03-07 Online:2019-08-18 Published:2019-08-18
  • Contact: Yin Dong, MD, Master’s supervisor, Postdoctoral coordinator, Chief physician, Department of Orthopedics, the People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, Guangxi Zhuang Autonomous Region, China
  • About author:Xiong Chunxiang, MD, Attending physician, Postdoctoral Research Station of the People’s Hospital of Guangxi Zhuang Autonomous Region and Postdoctoral Research Station of Clinical Medicine of Shanxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China; Department of Orthopedics, the People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, Guangxi Zhuang Autonomous Region, China
  • Supported by:

     the Major Research and Development Project of Guangxi Zhuang Autonomous Region, No. AB16380230 (to YD); the Natural Science Foundation of Guangxi Zhuang Autonomous Region, No. 2015GXNSFAA139200 (to YD); the Medical and Health Self-Financing Project of Guangxi Zhuang Autonomous Region, No. Z2016609 (to XCX)

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摘要：

文章快速阅读：

文题释义：
强直性脊柱炎早发髋关节强直：是指一类强直性脊柱炎患者在疾病的发生早期(发病5年内)就出现了髋关节强直，其髋关节韧带发生骨化，导致关节融合、关节功能障碍或丧失，失去劳动能力成为残疾人。该特殊类型强直性脊柱炎给人体带来的破坏性和致残率远远高于其他类型的强直性脊柱患者。
易感性：是指由遗传基础所决定的一个个体患病的风险。也可以理解为在相同环境下，不同个体患病的风险。易感性完全由基因决定，在环境致病因子作用下的基因表达往往起着更重要的作用，因为即使基因型一致，基因表达还会受到甲基化、体细胞突变、X染色体的随机失活等影响。
摘要
背景：前期临床研究中发现，人类白细胞抗原B27阳性与强直性脊柱炎早发髋关节强直具有强相关性。
目的：分析强直性脊柱炎早发髋关节强直与人类白细胞抗原B27基因亚型的易感性，探讨人类白细胞抗原B27基因亚型在强直性脊柱炎早发髋关节强直发病中的作用。
方法：收集具有完整病历资料的强直性脊柱炎早发髋关节强直患者300 例，强直性脊柱炎非早发髋关节强直患者300 例。研究经过广西壮族自治区人民医院伦理委员会审议通过，所有受试者及监护人均签署知情同意。采用病例-对照研究方案，其中强直性脊柱炎早发髋关节强直组，在其开始发病5年内，均有放射学检查(髋关节MRI、CT，骨盆X射线正侧位片)证实髋关节发生强直。收集2组患者一般情况和临床表现，采集患者2 mL静脉血, 通过PCR-SSP高分辨技术进行29种人类白细胞抗原B27基因亚型检测，计算人类白细胞抗原B27各基因亚型的构成比，分析相对危险度。
结果与结论：①2组患者人类白细胞抗原B27检测的总阳性率为93.67%(562例)：强直性脊柱炎早发髋关节强直组99.33%，强直性脊柱炎非早发髋关节强直组88.59%；②共找到29种人类白细胞抗原B27亚型中的6种，分别是B*2702、B*2703、B*2704、B*2705、B*2706及B*2713；2组均以B*2704及B*2705亚型为主，组间比较，B*2704亚型在强直性脊柱炎非早发髋关节强直组所占比例最高(P < 0.01)，强直性脊柱炎早发髋关节强直组B*2705亚型所占比例最高(P < 0.01)；③B*2705亚型与强直性脊柱炎早发髋关节强直发病危险度相关(OR=1.896，95%可信区为1.221-3.218)；④结果表明，强直性脊柱炎患者以B*2704和B*2705为主要亚型，其中B*2705亚型是导致强直性脊柱炎患者早发髋关节强直的易感基因。B*2705亚型可作为强直性脊柱炎早发髋关节强直早期诊断的重要参考指标。

关键词: 强直性脊柱炎, 髋关节强直, 人类白细胞抗原, 早发髋关节强直, HLA-B27

Abstract:

BACKGROUND: Preliminary study has shown that positive for human leukocyte antigen-B27 is closely related to ankylosing spondylitis early-onset hip ankylosis.
OBJECTIVE: To study the susceptibility of ankylosing spondylitis early-onset hip ankylosis and human leukocyte antigen-B27 gene subtype, and to explore the role of human leukocyte antigen-B27 gene subtype in the pathogenesis of ankylosing spondylitis early-onset hip ankylosis.
METHODS: Three hundred cases of ankylosing spondylitis with early-onset hip ankylosis and 300 cases of ankylosing spondylitis without early-onset hip ankylosis were collected. The study was approved by the Ethics Committee of the People’s Hospital of Guangxi Zhuang Autonomous Region, and all the participants and their guardians signed the informed consents. A case-control study was conducted, and the cases of ankylosing spondylitis with early-onset hip ankylosis were confirmed by radiological examinations (hip MRI, CT, pelvic X-ray film) within 5 years. The general condition and clinical manifestation of the subjects were collected. The 2 mL venous blood of each subject was collected for detecting the 29 human leukocyte antigen-B27 genotypes by PCR-SSP high resolution technique. The constituent ratio of human leukocyte antigen-B27 gene subtypes was calculated and relative risk was analyzed.
RESULTS AND CONCLUSION: (1) The total positive rate of human leukocyte antigen-B27 detection in the two groups was 93.67% (562 cases), 99.33% in the ankylosing spondylitis with early-onset hip ankylosis group, and 88.59% in ankylosing spondylitis without early-onset hip ankylosis. (2) Six of the 29 types of human leukocyte antigen-B27 subtypes were found, which were B*2702, B*2703, B*2704, B*2705, B*2706 and B*2713. The two groups were mainly B*2704 and B*2705 subtypes. The proportion of B*2704 subtypes in the ankylosing spondylitis without early-onset hip ankylosis group was highest (P < 0.01). The highest proportion in the ankylosing spondylitis with early-onset hip ankylosis group was B*2705 (P < 0.01). (3) B*2705 subtype was associated with the risk of ankylosing spondylitis early-onset hip ankylosis (OR=1.896, 95%CI: 1.221-3.218). (4) In summary, the main subtypes of ankylosing spondylitis patients are B*2704 and B*2705, and the B*2705 subtype is a susceptible gene that causes early-onset hip ankylosis in ankylosing spondylitis patients. The subtype of B*2705 can be used as an important reference index for early diagnosis of ankylosing spondylitis early-onset hip ankylosis.

Key words: ankylosing spondylitis, hip ankylosis, human leukocyte antigen, early-onset hip ankylosis, HLA-B27

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