Department of Medicine, University of Istanbul, Istanbul, Turkey.
Clin Exp Rheumatol. 2010 Jul-Aug;28(4 Suppl 60):S67-75. Epub 2010 Sep 24.
We investigated the prevalence of Behçet's syndrome (BS) among the ethnic Armenians in Istanbul using Familial Mediterranean Fever (FMF) as a comparator disease. We also studied HLA-B51 and MEFV mutations among a group of healthy Armenians and a non-Armenian population.
The prevalence study was conducted in 2 parts in the Armenian primary schools in Istanbul, using the enrolled students as index cases to study the core family. In Part I, a questionnaire seeking only whether either parent had previously been diagnosed as having BS or FMF by a physician was distributed to a total of 1873 index students registered at 10 schools. A total of 1380 parents filled in the questionnaire, yielding a response rate of 37% (1380 / 3746). In Part II, eight schools participated with a response rate of 83 % (1183/1428). Also, genomic DNA samples of 108 healthy (14 M/94 F) Armenians and 97 (45 M/ 52 F) non-Armenians, were studied for HLAB51 and MEFV gene mutations.
In Part I, none of the parents turned out to have been diagnosed as BS, whereas a total of 12 / 1380 (870/105) had been diagnosed as FMF. In the second part the estimated prevalence of BS was 90 /105 and that of FMF was 760/ 105. HLA-B51 carrier rate was found to be similar between the Armenian (27%, 29/108) and the non-Armenian participants (19%, 18/97), (p=0.158). Overall carrier rate of MEFV gene mutations was significantly higher in the Armenian group (36% vs. 20%, p=0.015).
The genetic load for FMF is considerably higher among the Armenians when compared to the load for BS among the same ethnic group. On the other hand, the rather low frequency of BS among the Armenians when compared to the frequency among the general population living in the same environment is further evidence for a genetic predisposition to BS. HLA- B51 does not seem to play a dominant role in the said predisposition. Finally, as we have used an unorthodox epidemiological methodology in data collection our results might need to be further verified by more conventional methods.
通过将家族性地中海热（FMF）作为对照疾病，我们研究了伊斯坦布尔的亚美尼亚人族群中贝切特综合征（BS）的流行情况。我们还研究了一组健康的亚美尼亚人和非亚美尼亚人群中的 HLA-B51 和 MEFV 突变。
本研究在伊斯坦布尔的亚美尼亚小学分两部分进行，使用注册学生作为索引病例来研究核心家庭。在第一部分中，向总共 10 所学校的 1873 名索引学生分发了一份问卷，仅询问父母双方是否曾被医生诊断为患有 BS 或 FMF。共有 1380 名父母填写了问卷，应答率为 37%（1380/3746）。在第二部分，有 8 所学校参与，应答率为 83%（1183/1428）。此外，还对 108 名健康（14 名男性/94 名女性）亚美尼亚人和 97 名（45 名男性/52 名女性）非亚美尼亚人的基因组 DNA 样本进行了 HLA-B51 和 MEFV 基因突变研究。
在第一部分，父母双方均未被诊断为 BS，而共有 12/1380（870/105）被诊断为 FMF。在第二部分，BS 的估计患病率为 90/105，FMF 的患病率为 760/105。亚美尼亚人（27%，29/108）和非亚美尼亚人参与者（19%，18/97）的 HLA-B51 携带率相似（p=0.158）。亚美尼亚人组 MEFV 基因突变的总体携带率明显高于非亚美尼亚人组（36% vs. 20%，p=0.015）。
与同族群中 BS 的遗传负荷相比，FMF 的遗传负荷在亚美尼亚人中要高得多。另一方面，与生活在相同环境中的一般人群相比，BS 在亚美尼亚人中的频率较低，这进一步证明了 BS 存在遗传易感性。HLA-B51 似乎在这种易感性中不起主导作用。最后，由于我们在数据收集方面采用了非传统的流行病学方法，因此我们的结果可能需要通过更传统的方法进一步验证。
