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Abstract：
This study aimed to investigate whether functional variants of endothelial nitric oxide synthase (eNOS) gene play any role in rheumatoid arthritis (RA) ethiopathogenesis and treatment in the Turkish population. Because, eNOS variants are responsible for alteration of the NO level in plasma, by reducing/increasing the endothelial NO synthesis. In the study, two eNOS gene variants (G894T and intron 4 VNTR A/B) were examined at extracted DNAs from 65 peripheral blood cell of RA patients. For the control, blood samples obtained from 70 healthy persons were studied. Genotyping of molecular variants was performed by PCR-RFLP and/or PCR technique. The data obtained was compared in itself and response to therapy. We found that \"TT genotypic frequency\" for the G894T variant was significantly associated with RA with an overall risk of 8.3-fold (p 0.029). No association was identified between intron 4 VNTR A/B variant and RA. At the 6 months, the mean visual analog scale (VAS), health assessment questionnaire (HAQ), and disease activity score for 28 joints (DAS 28) improvement was not significant among groups. Improvement in DAS was significantly better in anti-TNF treatment than disease-modifying antirheumatic drugs (DMARD) treatment treated subgroup. We report for the first time that variants in the eNOS \"TT\" genotype might be contributed to the increased risk of RA in the Turkish population. These results imply that functional variants of eNOS gene might have an effect on RA patients and response to anti-TNF treatment. In addition, the results suggest that eNOS variants might be associated and affect host susceptibility and/or response to treatment in Turkish RA patients.
摘要：
这项研究旨在调查土耳其人群中内皮型一氧化氮合酶（eNOS）基因的功能变体在类风湿关节炎（RA）的发病机制和治疗中是否起任何作用。因为,eNOS变体负责改变血浆中的NO水平，通过减少/增加内皮NO合成。在研究中,在从65例RA患者外周血细胞中提取的DNA中检查了两种eNOS基因变体（G894T和内含子4VNTRA/B）。对于控制，研究了70名健康人的血液样本。通过PCR-RFLP和/或PCR技术进行分子变体的基因分型。比较获得的数据本身和对治疗的反应。我们发现G894T变异体的“TT基因型频率”与RA显著相关，总风险为8.3倍（p0.029）。在内含子4VNTRA/B变体与RA之间未鉴定出关联。6个月时,平均视觉模拟量表(VAS)，健康评估问卷（HAQ），28个关节的疾病活动评分（DAS28）改善在组间并不显著。抗TNF治疗的DAS改善明显优于疾病缓解抗风湿药（DMARD）治疗的亚组。我们首次报道eNOS“TT”基因型的变异可能导致土耳其人群RA风险增加。这些结果表明，eNOS基因的功能变体可能对RA患者和对抗TNF治疗的反应产生影响。此外,结果表明,在土耳其RA患者中,eNOS变异可能与宿主对治疗的敏感性和/或应答相关.
