线粒体D环序列多态性与慢性肾脏病的关联
Association of sequence polymorphism in the mitochondrial D-loop with chronic kidney disease.
作者信息
Bai Yaling, Guo Zhanjun, Xu Jinsheng, Zhang Junxia, Cui Liwen, Zhang Huiran, Zhang Shenglei, Ai Xiaolu
机构信息
Department of Nephrology, The Fourth Hospital of Hebei Medical University , Shijiazhuang , P.R. China and.
出版信息
Ren Fail. 2014 Jun;36(5):781-4. doi: 10.3109/0886022X.2014.890842. Epub 2014 Feb 27.
BACKGROUND
The mitochondrial displacement loop (D-loop) is known to accumulate mutations and single nucleotide polymorphisms (SNPs) at a higher frequency than other regions of mitochondrial DNA (mtDNA).
METHODS
This is a case-control study. We sequenced SNPs in the D-loop of mtDNA and investigated their association with the risk of chronic kidney disease (CKD).
RESULTS
A total of 144 SNPs referring to the positions of the Revised Cambridge Reference Sequence (rCRS) for mitochondrial genome were identified in a case-control study. The minor alleles of nucleotides 73G, 146C, 150T, 194T, 195C and 310C were associated with an increased risk for CKD patients.
CONCLUSION
Analysis of genetic polymorphisms in the mitochondrial D-loop can help identify the people who are at a high risk of developing chronic kidney disease. These SNPs can be considered as potential predictors for CKD.
背景
已知线粒体置换环（D环）比线粒体DNA（mtDNA）的其他区域更频繁地积累突变和单核苷酸多态性（SNP）。
方法
这是一项病例对照研究。我们对mtDNA的D环中的SNP进行测序，并研究它们与慢性肾脏病（CKD）风险的关联。
结果
在一项病例对照研究中，共鉴定出144个参考线粒体基因组修订剑桥参考序列（rCRS）位置的SNP。核苷酸73G、146C、150T、194T、195C和310C的次要等位基因与CKD患者风险增加相关。
结论
分析线粒体D环中的基因多态性有助于识别患慢性肾脏病风险高的人群。这些SNP可被视为CKD的潜在预测指标。
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