Instituto de Parasitología y Biomedicina López-Neyra, C.S.I.C., Granada, Spain.
Clin Exp Rheumatol. 2011 Mar-Apr;29(2):293-8. Epub 2011 Apr 19.
To assess the potential association between LEP rs2167270 (19 G>A) gene polymorphism and disease susceptibility and cardiovascular disease (CV) in patients with rheumatoid arthritis (RA).
773 patients fulfilling the 1987 American College of Rheumatology classification criteria for RA, seen at the rheumatology outpatient clinics of Hospital Xeral-Calde, Lugo, and Hospital San Carlos, Madrid, Spain, and 957 matched controls, were studied. Patients were genotyped for the LEP rs2167270 (19G>A) polymorphism, located within the 5´UTR, using predesigned TaqMan single nucleotide polymorphism genotyping assay. Also, HLA-DRB1 genotyping was performed using molecular based methods. Subclinical atherosclerosis was assessed in a subgroup of patients with no history of CV events by brachial artery reactivity to determine flow-mediated endothelium-dependent and endothelium-independent vasodilatation (n=133) and by B-mode ultrasonography of the carotid artery intima-media thickness (n=113).
No statistically significant differences in the genotype or allele frequencies of the LEP rs2167270 gene polymorphism between patients with RA and controls were seen. Likewise, LEP rs2167270 polymorphism did not influence the development of CV events. Also, no significant differences in LEP rs2167270 genotype or allele distribution were seen when results of surrogate markers of subclinical atherosclerosis were assessed.
LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA.
评估 LEP rs2167270（19G>A）基因多态性与疾病易感性以及类风湿关节炎（RA）患者心血管疾病（CV）之间的潜在关联。
研究了在西班牙拉科鲁尼亚 Xeral-Calde 医院和马德里 San Carlos 医院的风湿病门诊就诊的符合 1987 年美国风湿病学会分类标准的 773 例 RA 患者和 957 例匹配对照者。使用预设计的 TaqMan 单核苷酸多态性基因分型检测方法，对 LEP rs2167270（19G>A）多态性（位于 5´UTR 内）进行基因分型。还使用基于分子的方法对 HLA-DRB1 基因分型进行了分析。在没有 CV 事件史的患者亚组中，通过肱动脉反应性评估评估了亚临床动脉粥样硬化，以确定血流介导的内皮依赖性和非内皮依赖性血管舒张（n=133），并通过颈动脉内膜中层厚度的 B 型超声评估（n=113）。
未发现 RA 患者与对照组之间 LEP rs2167270 基因多态性的基因型或等位基因频率存在统计学差异。同样，LEP rs2167270 多态性也不影响 CV 事件的发生。当评估亚临床动脉粥样硬化替代标志物的结果时，也未发现 LEP rs2167270 基因型或等位基因分布的显著差异。
LEP rs2167270 多态性似乎不是 RA 患者疾病易感性或临床明显 CV 疾病和亚临床动脉粥样硬化的遗传危险因素。
