Sequence-based polymorphisms in the mitochondrial D-loop and potential SNP predictors for chronic dialysis.
Sequence-based polymorphisms in the mitochondrial D-loop and potential SNP predictors for chronic dialysis.
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DOI：
10.1371/journal.pone.0041125
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Chang HW
中科院分区：
文献类型：
--
作者：
Chen JB;Yang YH;Lee WC;Liou CW;Lin TK;Chung YH;Chuang LY;Yang CH;Chang HW
已知线粒体（mt）置换环（D-loop）积累结构改变和突变。本研究的目的是调查慢性透析患者和健康对照者D环内单核苷酸多态性（SNP）的患病率。我们招募了193名慢性透析患者和704名健康对照者。通过大规模D-loop测序和生物信息学分析鉴定SNPs。慢性透析患者的体重指数、血硫醇和胆固醇水平低于对照组。在研究人群中共发现77个与修订的剑桥参考序列（CRS）中的位置相匹配的SNPs。与对照组相比，慢性透析患者的9个SNP的发生率显著较高。这些包括CRS的D环中的SNP 5（16108 Y）、SNP 17（16172 Y）、SNP 21（16223 Y）、SNP 34（16274 R）、SNP 35（16278 Y）、SNP 55（16463 R）、SNP 56（16519 Y）、SNP 64（185 R）和SNP 65（189 R）。在这些具有基因型的SNPs中，SNP 55-G、SNP 56-C和SNP 64-A在透析患者中的频率分别是对照组的4.78、1.47和5.15倍（P<0.05）。当调整人口统计学和合并症的协变量时，SNP 64-A在透析患者中的频率是对照组的5.13倍（P<0.01）。女性患者和非糖尿病、冠心病、吸烟、高血压患者的SNP 64-A分别是正常对照组的35.80、3.48、4.69、5、55和4.67倍，差异有统计学意义（P<0.05）。在50岁以上的高血压患者中，SNP 34-A和SNP 17-C的频率分别是50岁以下的患者和非高血压患者的7.97倍和3.71倍（P<0.05）。大规模测序的结果表明，mtDNA D环中的特定SNP与慢性透析显著相关。这些SNPs可以被认为是慢性透析的潜在预测因子。
The mitochondrial (mt) displacement loop (D-loop) is known to accumulate structural alterations and mutations. The aim of this study was to investigate the prevalence of single nucleotide polymorphisms (SNPs) within the D-loop among chronic dialysis patients and healthy controls. We enrolled 193 chronic dialysis patients and 704 healthy controls. SNPs were identified by large scale D-loop sequencing and bioinformatic analysis. Chronic dialysis patients had lower body mass index, blood thiols, and cholesterol levels than controls. A total of 77 SNPs matched with the positions in reference of the Revised Cambridge Reference Sequence (CRS) were found in the study population. Chronic dialysis patients had a significantly higher incidence of 9 SNPs compared to controls. These include SNP5 (16108Y), SNP17 (16172Y), SNP21 (16223Y), SNP34 (16274R), SNP35 (16278Y), SNP55 (16463R), SNP56 (16519Y), SNP64 (185R), and SNP65 (189R) in D-loop of CRS. Among these SNPs with genotypes, SNP55-G, SNP56-C, and SNP64-A were 4.78, 1.47, and 5.15 times more frequent in dialysis patients compared to controls (P<0.05), respectively. When adjusting the covariates of demographics and comorbidities, SNP64-A was 5.13 times more frequent in dialysis patients compared to controls (P<0.01). Furthermore, SNP64-A was found to be 35.80, 3.48, 4.69, 5,55, and 4.67 times higher in female patients and in patients without diabetes, coronary artery disease, smoking, and hypertension in an independent significance manner (P<0.05), respectively. In patients older than 50 years or with hypertension, SNP34-A and SNP17-C were found to be 7.97 and 3.71 times more frequent (P<0.05) compared to patients younger than 50 years or those without hypertension, respectively. The results of large-scale sequencing suggest that specific SNPs in the mtDNA D-loop are significantly associated with chronic dialysis. These SNPs can be considered as potential predictors for chronic dialysis.
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