Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behcet disease
Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behcet disease
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DOI：
10.1001/archopht.125.2.246
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发表时间：
2007-02-01
影响因子：
--
通讯作者：
Sakamoto, Taiji
中科院分区：
文献类型：
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作者：
Nakao, Kumiko;Isashiki, Yasushi;Sakamoto, Taiji
目的：研究内皮型一氧化氮合酶（NOS）、诱导型NOS、锰超氧化物歧化酶（SOD）和细胞外SOD基因多态性与日本白塞病（BD）易感性的关系。78例连续的日本BD患者和107例健康对照受试者通过聚合酶链反应或聚合酶链反应进行基因分型。限制性片段长度多态性方法检测内皮NOS内含子4、外显子7和启动子区多态性;诱导型NOS外显子16和启动子区多态性;锰SOD Ala 16 Val多态性;和细胞外SOD Arg 213 Gly多态性。结果：锰SOD Val 16基因频率在BD患者中明显增高，而在正常对照组中无明显差异。锰SOD-瓦尔/瓦尔基因型和HLA-B*51 - 01在控制BD易感性中具有协同作用。BD患者和对照组之间内皮型NOS、诱导型NOS和细胞外SOD基因多态性的频率无显著差异。结论：锰SOD Val 16等位基因与日本BD的发生有关。细胞外SOD、内皮NOS和诱导型NOS基因多态性不构成日本BD发病的危险因素。临床相关性：锰SOD基因多态性似乎与BD有关。
Objective: To investigate the association of endothelial nitric oxide synthase (NOS), inducible NOS, manganese superoxide dismutase (SOD), and extracellular SOD gene polymorphisms with susceptibility to Behcet disease (BD) in Japan.Methods: Seventy-eight consecutive Japanese patients with BD and 107 healthy control subjects were genotyped by polymerase chain reaction or polymerase chain reaction-restriction fragment length polymorphism methods for endothelial NOS polymorphisms in intron 4, exon 7, and promoter region; inducible NOS polymorphisms in exon 16 and promoter region; manganese SOD Ala16Val polymorphism; and extracellular SOD Arg213Gly polymorphism. HLA-B*51 alleles, which have been found to be associated with BD, were also determined.Results: The frequencies of manganese SOD Val16 increased significantly in patients with BD. The manganese SOD-Val/Val genotype and HLA-B*51 01 had a synergistic role in controlling susceptibility to BD. There was no significant difference in the frequencies of endothelial NOS, inducible NOS, and extracellular SOD gene polymorphisms between patients with BD and control subjects.Conclusion: The manganese SOD Val16 allele is associated with the development of BD in japan. Extracellular SOD, endothelial NOS, and inducible NOS gene polymorphisms do not constitute a risk factor for developing BD in japan.Clinical Relevance: The manganese SOD gene Polymorphism seems to contribute to BD.