A Fas promoter polymorphism at position-670 in the enhancer region does not confer susceptibility to Felty's and large granular lymphocyte syndromes
A Fas promoter polymorphism at position-670 in the enhancer region does not confer susceptibility to Felty's and large granular lymphocyte syndromes
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DOI：
10.1093/rheumatology/38.9.883
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发表时间：
1999-09-01
期刊：
影响因子：
5.5
通讯作者：
Lanchbury, JS
中科院分区：
文献类型：
--
作者：
Coakley, G;Manolios, N;Lanchbury, JS
目标。我们研究了Pas启动子多态性是否与类风湿关节炎（RA）、Felty综合征或大颗粒淋巴细胞白血病（LGL）相关。研究对象包括35名Felly患者，18名LGL综合征合并关节炎患者，17名LGL综合征但无关节炎患者，以及128名对照组。经聚合酶链反应和限制性内切酶mvai酶切鉴定其多态性。两组间基因型及等位基因频率差异无统计学意义。这种启动子多态性并不是Felty综合征和LGL综合征中LGL扩增的重要危险因素。Fas配体的异常组成表达可能与这些疾病的病因更相关。
Objective. We examined whether there are associations between a polymorphism in the Pas promoter, recently found to be associated with rheumatoid arthritis (RA), and Felty's syndrome or large granular lymphocyte (LGL) leukaemia.Methods. Thirty-five patients with Felly's were studied, along with 18 patients with LGL syndrome and arthritis, 17 patients with LGL syndrome but no arthritis, and 128 controls. The polymorphism was typed by polymerase chain reaction followed by digestion with the restriction enzyme MvaI.Results. No significant difference was found in genotype or allele frequencies between the groups.Conclusion. This promoter polymorphism is not a significant risk factor responsible for the LGL expansions seen in Felty's and LGL syndromes. Abnormal, constitutive expression of Fas ligand may be more relevant to the aetiology of these diseases.