Laboratory for DNA Analysis and Molecular Diagnostics, Department of Nephrology, Medical University of Lublin, Dr K. Jaczewskiego 8, 20-954, Lublin, Poland.
Neuromolecular Med. 2011 Dec;13(4):321-7. doi: 10.1007/s12017-011-8158-6. Epub 2011 Oct 2.
Renalase is a novel, recently identified, flavin adenine dinucleotide-dependent amine oxidase. It is secreted by the kidney and metabolizes circulating catecholamines. Renalase has significant hemodynamic effects, therefore it is likely to participate in the regulation of cardiovascular function.The aim of our study was to investigate the involvement of renalase gene polymorphisms in hypertension in type 2 diabetes patients. A total of 892 patients and 400 controls were genotyped with three SNPs in the renalase gene. The C allele of rs2296545 SNP was associated with hypertension (P < 0.01). For rs2576178 SNP, frequencies in hypertensive patients differed from controls, but not from normotensive patients. For rs10887800 SNP, the differences in the G allele frequencies were observed in hypertensive patients with stroke, with 66% of patients being GG homozygotes. To confirm observed association we later genotyped 130 stroke patients without diabetes. The OR for risk allele was 1.79 (95% CI 1.33-2.41). In conclusion, the renalase gene polymorphism was associated with hypertension in type 2 diabetes patients. The most interesting result is a strong association of the rs10887800 polymorphism with stroke in patients with and without diabetes. The G allele of this polymorphism might thus be useful in identifying diabetes patients at increased risk of stroke.
肾酶是一种新型的、最近发现的黄素腺嘌呤二核苷酸依赖性胺氧化酶。它由肾脏分泌,代谢循环中的儿茶酚胺。肾酶具有显著的血液动力学效应,因此它可能参与心血管功能的调节。我们的研究目的是探讨肾酶基因多态性在 2 型糖尿病患者高血压中的作用。共对 892 例患者和 400 例对照进行了肾酶基因 3 个 SNP 的基因分型。rs2296545 SNP 的 C 等位基因与高血压有关(P<0.01)。对于 rs2576178 SNP,高血压患者的频率与对照组不同,但与正常血压患者无差异。对于 rs10887800 SNP,在有中风的高血压患者中观察到 G 等位基因频率的差异,其中 66%的患者为 GG 纯合子。为了证实观察到的关联,我们随后对 130 例无糖尿病的中风患者进行了基因分型。风险等位基因的 OR 为 1.79(95%CI 1.33-2.41)。总之,肾酶基因多态性与 2 型糖尿病患者的高血压有关。最有趣的结果是 rs10887800 多态性与糖尿病患者和非糖尿病患者中风的强烈关联。该多态性的 G 等位基因可能有助于识别中风风险增加的糖尿病患者。