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2015 ; 3
(4
): 588-592
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Single-nucleotide polymorphism of the UMOD promoter is associated with the
outcome of chronic kidney disease patients
#MMPMID26171171
Cui L
; Bai Y
; Xu J
; Zhang J
; Zhang H
; Zhang S
; Zhang W
Biomed Rep
2015[Jul]; 3
(4
): 588-592
PMID26171171
show ga
Uromodulin (UMOD) is the most abundant protein secreted in urine and the mutated
form of the UMOD gene is associated with UMOD-associated kidney disease (UAKD).
Although UMOD accumulates in the kidney of UAKD patients, it is unclear whether
this also occurred in the chronic kidney disease (CKD) patients. Therefore, the
association of single-nucleotide polymorphisms (SNPs) in the promoter region of
UMOD gene with the kidney survival time of CKD was investigated. The promoter
region of the UMOD gene was sequenced for 111 CKD patients. The Kaplan-Meier
method was used to identify the disease outcome associated with SNPs in the
promoter region of the UMOD gene in CKD patients. The Cox proportional hazard
model was used to identify risk factors for the kidney survival time of CKD. SNPs
in reference to GenBank accession NG-000016 were detected at 23 sites of the
481-bp in the UMOD promoter region from the CKD patients and the healthy
controls. The 6 SNPs with minor allele frequency >5% in the CKD patients or
controls were used for disease risk and outcome analysis. The frequent allele
rs13333226AA was associated with a shorter period of kidney survival time in CKD
patients (P=0.005). The length of kidney survival time in CKD patients with the
rs13333226AA genotype was significantly shorter than that of patients with the
frequent allele rs13333226AG+GG (relative risk, 0.361; 95% confidence interval,
0.171-0.761; P=0.007). In conclusion, analysis of genetic polymorphisms in UMOD
may help to identify the CKD patient subgroups at a high risk for a disease
outcome, thereby helping to refine therapeutic decisions in CKD patients.