Weiss Johanna, Fränkl Stephan A, Flammer Josef, Grieshaber Matthias C, Hollo Gabor, Teuchner Barbara, Haefeli Walter Emil
Department of Clinical Pharmacology and Pharmacoepidemiology University of Heidelberg, Heidelberg, Germany.
Mol Vis. 2012;18:2174-81. Epub 2012 Aug 7.
Substantial evidence suggests that ocular perfusion is regulated by nitric oxide (NO), and polymorphisms in genes encoding for enzymes involved in NO formation and degradation (endothelial nitric oxide synthase [NOS3] and cytochrome b-235 alpha polypeptide gene [CYBA]) might contribute to vascular dysregulation observed in glaucoma. We therefore assessed the association of glaucoma with polymorphisms of NOS3 and CYBA previously associated with cardiovascular disease. We also compared the distribution of these polymorphisms in patients with high tension glaucoma (HTG) and normal tension glaucoma (NTG) and evaluated its association with vascular dysregulation in a subset of glaucoma patients.
Three hundred Caucasian patients with HTG and 127 with NTG were enrolled in the study and genotyped for G894T (rs1799983) and T-786C (rs2070744) in NOS3 and C242T (rs4673) in CYBA.
None of these polymorphisms had a different allele or genotype distribution between HTG and NTG patients nor had the presence of vasospasms any impact.
We studied the frequencies of a set of relevant polymorphisms of the NO system in a large cohort of glaucoma patients and found no association. These results therefore suggest the absence of a relevant relationship with different glaucoma forms in Caucasians.
大量证据表明,眼灌注受一氧化氮(NO)调节,参与NO生成和降解的酶(内皮型一氧化氮合酶 [NOS3] 和细胞色素b - 235α多肽基因 [CYBA])编码基因的多态性可能导致青光眼患者出现血管调节异常。因此,我们评估了青光眼与先前与心血管疾病相关的NOS3和CYBA基因多态性之间的关联。我们还比较了这些多态性在高眼压性青光眼(HTG)和正常眼压性青光眼(NTG)患者中的分布情况,并在一部分青光眼患者中评估了其与血管调节异常的关联。
300例高加索HTG患者和127例NTG患者纳入本研究,对NOS3基因中的G894T(rs1799983)和T - 786C(rs2070744)以及CYBA基因中的C242T(rs4673)进行基因分型。
这些多态性在HTG和NTG患者之间的等位基因或基因型分布均无差异,血管痉挛的存在也无任何影响。
我们在一大群青光眼患者中研究了NO系统一组相关多态性的频率,未发现关联。因此,这些结果表明在高加索人中,这些多态性与不同类型的青光眼之间不存在相关关系。