Durmus Dilek, Alayli Gamze, Cengiz Kivanc, Yigit Serbulent, Canturk Ferhan, Bagci Hasan
Department of Physical Medicine and Rehabilitation, Medical Faculty, Ondokuz Mayis University, 55139 Samsun, Turkey.
Joint Bone Spine. 2009 May;76(3):260-4. doi: 10.1016/j.jbspin.2008.09.011. Epub 2008 Dec 31.
The aim of the present study was to investigate the prevalence of MEFV gene mutations in patients with ankylosing spondylitis (AS) and to assess the clinical significance of the MEFV gene mutations in AS.
Eighty AS patients and 85 healthy controls were examined for 12 common MEFV mutations via strip-assay technique. Bath ankylosing spondylitis disease activity index (BASDAI), bath ankylosing spondylitis functional index (BASFI), visual analogue scale (VAS) for pain, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Schober test, chest expansion measurements, hip involvement, ocular involvement, articular pain, and presence of syndesmophytes were used to assess the disease severity in patients.
Twenty-four of the AS patients (30%) and 17 of the healthy controls (20%) were found to carry a single MEFV mutation. There was no significant difference between the AS patients and controls in terms of MEFV gene mutation frequency (p = 0.13, OR: 1.71, 95% CI: 0.83-3.50). When the patients were divided into two groups as MEFV mutation carriers and noncarriers, there was significant difference between the groups regarding BASFI and BASDAI whereas there was no significant difference in VAS score for pain. No association was found with the clinical findings and MEFV mutation except hip involvement. While there was no significant difference in CRP levels, individuals with MEFV mutation had a higher ESR than the noncarriers.
MEFV gene mutation carriage rate was not found to be significantly higher in AS patients when compared with healthy controls. However having an MEFV mutation seems to aggravate the disease course in AS.
本研究旨在调查强直性脊柱炎（AS）患者中MEFV基因突变的患病率，并评估MEFV基因突变在AS中的临床意义。
采用条带检测技术对80例AS患者和85例健康对照者进行12种常见MEFV突变检测。使用巴斯强直性脊柱炎疾病活动指数（BASDAI）、巴斯强直性脊柱炎功能指数（BASFI）、疼痛视觉模拟评分（VAS）、红细胞沉降率（ESR）、C反应蛋白（CRP）、Schober试验、胸廓活动度测量、髋关节受累情况、眼部受累情况、关节疼痛以及韧带骨赘的存在情况来评估患者的疾病严重程度。
发现24例AS患者（30%）和17例健康对照者（20%）携带单个MEFV突变。AS患者和对照者在MEFV基因突变频率方面无显著差异（p = 0.13，OR：1.71，95% CI：0.83 - 3.50）。当将患者分为MEFV突变携带者和非携带者两组时，两组在BASFI和BASDAI方面存在显著差异，而疼痛VAS评分无显著差异。除髋关节受累外，未发现临床 findings 与MEFV突变之间存在关联。虽然CRP水平无显著差异，但MEFV突变个体的ESR高于非携带者。
与健康对照者相比，未发现AS患者中MEFV基因突变携带率显著更高。然而，携带MEFV突变似乎会加重AS的病程。
