Department of Advanced Medicine for Uremia, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Japan.
J Ren Nutr. 2012 Jan;22(1):114-9. doi: 10.1053/j.jrn.2011.10.025.
Sirtuin 1 (SIRT1), a longevity gene, protects cells against oxidative and genotoxic stress. This study aimed to investigate the association of SIRT 1 gene single-nucleotide polymorphisms, namely, rs7895833, rs7069102, and rs2273773 with lipid profiles and coronary artery calcification score in 219 Japanese hemodialysis (HD) patients.
Genotyping of these polymorphisms was performed using polymerase chain reaction with confronting two-pair primers assay.
The A allele frequency of rs7895833 and G allele frequency of rs7069102 were significantly lower in HD patients (0.228 and 0.131, respectively) than those in 803 control subjects (general population) (0.289 and 0.181, respectively) (P = .010 and P = .012, respectively). However, the allele frequency of rs2273773 was not significantly different from that in the control subjects. Multivariate analysis adjusted for age and duration on HD demonstrated that the serum levels of total and low-density lipoprotein cholesterol were significantly high in G allele carriers of rs7069102 compared with CC genotype in male HD patients. Coronary artery calcification score was significantly high in C allele carriers of rs2273773 in all and male HD patients.
SIRT 1 polymorphisms, rs7069102 and rs2273773, are associated with abnormal cholesterol metabolism and coronary artery calcification, respectively, in Japanese HD patients, especially in males.
长寿基因 Sirtuin 1(SIRT1)可保护细胞免受氧化和遗传毒性应激。本研究旨在探讨 SIRT1 基因单核苷酸多态性(rs7895833、rs7069102 和 rs2273773)与 219 例日本血液透析(HD)患者的血脂谱和冠状动脉钙化评分之间的关系。
采用聚合酶链反应-对比双引物法对这些多态性进行基因分型。
与 803 名对照受试者(一般人群)相比,HD 患者 rs7895833 的 A 等位基因频率(0.228)和 rs7069102 的 G 等位基因频率(0.131)显著降低(0.289 和 0.181)(P=0.010 和 P=0.012)。然而,rs2273773 的等位基因频率与对照受试者无显著差异。调整年龄和 HD 持续时间的多变量分析表明,与 CC 基因型相比,rs7069102 的 G 等位基因携带者的总胆固醇和低密度脂蛋白胆固醇血清水平在男性 HD 患者中显著升高。在所有 HD 患者和男性 HD 患者中,rs2273773 的 C 等位基因携带者的冠状动脉钙化评分显著升高。
SIRT1 多态性 rs7069102 和 rs2273773 分别与日本 HD 患者异常胆固醇代谢和冠状动脉钙化有关,尤其是男性。