Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA.
Am J Physiol Renal Physiol. 2013 Feb 15;304(4):F348-55. doi: 10.1152/ajprenal.00568.2012. Epub 2012 Dec 5.
Oxidative stress is acknowledged to play a role in kidney disease progression. Genetic variants that affect the capacity to handle oxidative stress may therefore influence the outcome of kidney disease. We examined whether genetic variants of the GSTM1 gene, a member of a superfamily of glutathione S-transferases, influence the course of kidney disease progression in participants of the African American Study of Kidney Disease (AASK) trial. Groups with and without the common GSTM1 null allele, GSTM1(0), differed significantly in the time to a glomerular filtration rate (GFR) event or dialysis (P = 0.04) and in the time to GFR event, dialysis, or death (P = 0.02). The hazard ratios (HR) for the time to a GFR event or dialysis in those with two or one null allele relative to those possessing none were 1.88 [95% confidence interval (CI), 1.07 to 3.30, P = 0.03] and 1.68 (95% CI, 1.00 to 2.84, P < 0.05), respectively. For the time to GFR event, dialysis, or death, the HR for two null alleles was 2.06 (95% CI, 1.20 to 3.55, P = 0.01) and for one null allele 1.70 (95% CI, 1.02 to 2.81, P = 0.04). We demonstrated that GSTM1 directly regulates intracellular levels of 4-hydroxynonenal (4-HNE) in vascular smooth muscle cells. Furthermore, we showed that renal 4-HNE levels and GSTM1 are both increased after reduction of renal mass (RRM) in the mouse. We conclude that GSTM1 is normally upregulated in chronic kidney disease (CKD) in a protective response to increased oxidative stress. A genetic variant that results in loss of GSTM1 activity may be deleterious in CKD.
氧化应激被认为在肾脏疾病的进展中发挥作用。因此,影响氧化应激处理能力的遗传变异可能会影响肾脏疾病的结局。我们研究了谷胱甘肽 S-转移酶家族成员 GSTM1 基因的遗传变异是否会影响非洲裔美国人肾脏病研究(AASK)试验参与者肾脏疾病进展的过程。有和没有常见的 GSTM1 缺失等位基因(GSTM1(0))的组在肾小球滤过率(GFR)事件或透析的时间(P = 0.04)以及 GFR 事件、透析或死亡的时间(P = 0.02)上有显著差异。在那些有两个或一个缺失等位基因的人相对于那些没有缺失等位基因的人,发生 GFR 事件或透析的时间的风险比(HR)分别为 1.88(95%置信区间,1.07 至 3.30,P = 0.03)和 1.68(95%置信区间,1.00 至 2.84,P < 0.05)。对于 GFR 事件、透析或死亡的时间,两个缺失等位基因的 HR 为 2.06(95%置信区间,1.20 至 3.55,P = 0.01),一个缺失等位基因的 HR 为 1.70(95%置信区间,1.02 至 2.81,P = 0.04)。我们证明 GSTM1 直接调节血管平滑肌细胞内 4-羟基壬烯醛(4-HNE)的水平。此外,我们还表明,在小鼠的肾脏质量减少(RRM)后,肾脏中的 4-HNE 水平和 GSTM1 都会增加。我们得出结论,在慢性肾脏病(CKD)中,GSTM1 通常会因氧化应激增加而被上调,这是一种保护反应。导致 GSTM1 活性丧失的遗传变异在 CKD 中可能是有害的。