Single nucleotide polymorphisms in the D-loop region of mitochondrial DNA and age-at-onset of patients with chronic kidney disease / 中华医学杂志(英文版)
Chin. med. j
; Chin. med. j;(24): 3088-3091, 2014.
Article
in En
| WPRIM
| ID: wpr-240224
Responsible library:
WPRO
ABSTRACT
<p><b>BACKGROUND</b>The mitochondrial displacement loop (D-loop) accumulates mutations and single nucleotide polymorphisms (SNPs) at a higher frequency than other regions of mitochondrial DNA (mtDNA). We previously identified disease risk-associated SNPs in the D-loop of chronic kidney disease (CKD) patients; in this study, we investigated the association of age-at-onset and D-loop SNPs in CKD patients.</p><p><b>METHODS</b>The D-loop region of mtDNA was sequenced in 119 CKD patients attending the Fourth Hospital of Hebei Medical University between 2002 and 2008. The age-at-onset curve of the CKD patients was calculated using the Kaplan-Meier method at each SNP site, and compared using the log-rank test.</p><p><b>RESULTS</b>The mean age of 119 CKD patients was (55.6±14.2) years, and 56.3% were males. The mean estimated glomerular filtration rate (eGFR) was (81.2±12.4) ml×min(-1)×1.73 m(-2), with 79.8% (n = 95) of patients having an eGFR <60 ml×min(-1)×1.73 m(-2). All participants had an eGFR >30 ml×min(-1)×1.73 m(-2). The age-at-onset for CKD patients who smoked was significantly lower than that of non-smoking CKD patients. The SNP sites of nucleotides 150C/T were identified for their association with age-at-onset using the log-rank test. The age-at-onset of patients with the minor allele T genotype was significantly lower than that of patients with the C genotype at the 150 SNP site (P = 0.010).</p><p><b>CONCLUSIONS</b>Genetic polymorphisms in the D-loop appear to be predictive markers for age-at-onset in CKD patients. Accordingly, the analysis of genetic polymorphisms in the mitochondrial D-loop may help identify CKD patient subgroups at high risk of early onset disease.</p>
Full text:
1
Index:
WPRIM
Main subject:
DNA, Mitochondrial
/
Polymorphism, Single Nucleotide
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Renal Insufficiency, Chronic
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Kaplan-Meier Estimate
/
Genetics
Type of study:
Prognostic_studies
Limits:
Adult
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Aged
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Female
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Humans
/
Male
Language:
En
Journal:
Chin. med. j
Year:
2014
Type:
Article