Akkoc Nurullah, Sari Ismail, Akar Servet, Binicier Omer, Thomas Mark G, Weale Michael E, Birlik Merih, Savran Yusuf, Onen Fatos, Bradman Neil, Plaster Christopher A
Dokuz Eylül University School of Medicine, Izmir, Turkey.
Arthritis Rheum. 2010 Oct;62(10):3059-63. doi: 10.1002/art.27598.
To assess whether there is a statistically significant difference in the frequency of common MEFV allele variants in patients with ankylosing spondylitis (AS) as compared with control patients with rheumatoid arthritis (RA) and with healthy control subjects.
Sixty-two patients with AS, 50 healthy control subjects, and 46 patients with RA were assessed for the presence of MEFV variants. Exon 10 was analyzed by direct sequencing. E148Q was analyzed by restriction endonuclease enzyme digestion (REED) or by direct sequencing when REED analysis failed.
The allele frequency of all MEFV variants in the AS group was significantly higher than that in the pooled control group of healthy subjects plus RA patients (15.3% versus 6.8%; P = 0.021). M694V was the only variant that was significantly more common in the AS group than in the combined or individual control groups (P = 0.026 for AS patients versus healthy controls, P = 0.046 for AS patients versus RA patient controls, and P = 0.008 for AS patients versus healthy and RA patient control groups). The carriage rate of M694V was also significantly higher in the AS patient group than in the combined control group (odds ratio 7.0, P = 0.014). Neither M694V nor any other MEFV variant showed a correlation with most of the disease-related measures examined.
We found an increased frequency of MEFV variants in AS patients as compared with healthy controls and with RA patient controls. This was primarily due to the presence of M694V. The roles of other exon 10 variants, as well as the relationship between the variant status and the severity and clinical course of the disease, need to be explored in further studies that include sufficiently large sample sizes.
评估强直性脊柱炎（AS）患者与类风湿关节炎（RA）对照患者及健康对照受试者相比，常见MEFV等位基因变异频率是否存在统计学上的显著差异。
对62例AS患者、50例健康对照受试者和46例RA患者进行MEFV变异检测。通过直接测序分析第10外显子。当限制性内切酶消化（REED）分析失败时，通过直接测序分析E148Q。
AS组中所有MEFV变异的等位基因频率显著高于健康受试者加RA患者的合并对照组（15.3%对6.8%；P = 0.021）。M694V是AS组中唯一比合并或单独对照组更常见的变异（AS患者与健康对照相比P = 0.026，AS患者与RA患者对照相比P = 0.046，AS患者与健康及RA患者对照组相比P = 0.008）。AS患者组中M694V的携带率也显著高于合并对照组（优势比7.0，P = 0.014）。M694V和任何其他MEFV变异均未显示与所检测的大多数疾病相关指标存在相关性。
我们发现与健康对照和RA患者对照相比，AS患者中MEFV变异频率增加。这主要归因于M694V的存在。其他第10外显子变异的作用以及变异状态与疾病严重程度和临床病程之间的关系，需要在包括足够大样本量的进一步研究中进行探索。
