Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disease
Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disease
复制标题
DOI：
10.1002/ajh.23874
复制
发表时间：
2015-01-01
影响因子：
12.8
通讯作者：
Lang, Alois H.
中科院分区：
文献类型：
--
作者：
Muendlein, Axel;Kinz, Elena;Lang, Alois H.
获得性JAK2 V617F突变在骨髓增生性肿瘤患者中很常见。我们之前的研究表明，JAK2 V617F也存在于冠状动脉患者中，其中大多数受冠状动脉粥样硬化影响。外周动脉疾病（PAD）是动脉粥样硬化的另一个重要表现。然而，在PAD患者中JAK2 V617F突变的患病率及其对临床或血液学特征的影响尚不清楚。在本研究中，我们确定了287名超声证实的PAD患者中JAK2 V617F的患病率，并将突变频率与KORA F4研究中997名健康人群的突变状态进行了比较。采用相同的等位基因特异性实时荧光定量PCR方法对两个队列的JAK2 V617F等位基因负荷进行筛选和定量。在总共287名PAD患者中，9人检测出JAK2 V617F突变阳性。1例患者血红蛋白升高，提示真性红细胞增多症。PAD患者中JAK2 V617F的表达频率（3.1%）为健康人群的5倍，极显著升高（P < 0.001）。此外，使用阿司匹林的PAD患者的突变发生率显著降低（P = 0.003）。我们得出结论，与一般人群相比，PAD患者中JAK2 V617F突变的患病率显着增加。未来的研究有必要证实我们的观察结果，并确定我们发现背后的潜在机制。(C) 2014 Wiley期刊公司
The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms. We previously showed that JAK2 V617F is also found in coronary patients, most of them affected by coronary atherosclerosis. Peripheral arterial disease (PAD) is another important manifestation of atherosclerosis. However, prevalence of the JAK2 V617F mutation and its effect on clinical or hematologic characteristics is unknown in PAD patients. In the present study we determined the prevalence of JAK2 V617F in a cohort of 287 patients with sonographically proven PAD and compared mutation frequency with mutational status of 997 healthy people from the KORA F4 study. JAK2 V617F screening and quantification of allele burden in both cohorts was performed with same allele-specific quantitative real-time PCR method. From a total of 287 PAD patients, 9 individuals were tested positive for the JAK2 V617F mutation. One patient showed elevated hemoglobin values, indicating polycythemia vera. Observed JAK2 V617F frequency (3.1%) in PAD patients showed a 5-fold, highly significant increase compared with healthy people (P < 0.001). Furthermore, occurrence of the mutation in PAD patients was significantly decreased in patients using aspirin (P = 0.003). We conclude that the prevalence of JAK2 V617F mutation is significantly increased in PAD patients compared to the general population. Future studies are warranted to confirm our observations and to define the underlying mechanisms behind our findings. (C) 2014 Wiley Periodicals, Inc.