Shimoyama Yasuhiko, Taki Kentaro, Mitsuda Yoko, Tsuruta Yoshinari, Hamajima Nobuyuki, Niwa Toshimitsu
Department of Advanced Medicine for Uremia, Nagoya University School of Medicine, Nagoya, Japan.
Am J Nephrol. 2009;30(4):383-8. doi: 10.1159/000235686. Epub 2009 Aug 19.
BACKGROUND/AIMS: This study aimed to investigate the association of the KLOTHO gene single nucleotide polymorphisms (SNPs), G-395A and C1818T, with various laboratory data in 219 Japanese hemodialysis (HD) patients.
The genotyping of G-395A in the promoter region and C1818T in exon 4 was performed using polymerase chain reaction with confronting two-pair primers (PCR-CTPP) assay.
In HD patients, the allele frequencies of G-395A were 0.847 for the G allele and 0.153 for the A allele and those of the C1818T were 0.829 for the C allele and 0.171 for the T allele. There were no significant differences in allele frequencies of G-395A and those of the C1818T between HD patients and healthy subjects. Multivariate analysis adjusted for age and duration on HD demonstrated that uric acid was significantly high in A allele carriers of G-395A compared with GG genotype in all and female patients. Low-density lipoprotein cholesterol was significantly low in T allele carriers of C1818T compared with CC genotype in all and male patients.
KLOTHO gene SNPs G-395A and C1818T are associated with low-density lipoprotein cholesterol and uric acid in HD patients.
背景/目的:本研究旨在调查219名日本血液透析(HD)患者中,KLOTHO基因单核苷酸多态性(SNP),即G-395A和C1818T,与各种实验室数据之间的关联。
采用两对引物对抗聚合酶链反应(PCR-CTPP)法对启动子区域的G-395A和外显子4中的C1818T进行基因分型。
在HD患者中,G-395A的等位基因频率为:G等位基因为0.847,A等位基因为0.153;C1818T的等位基因频率为:C等位基因为0.829,T等位基因为0.171。HD患者与健康受试者之间,G-395A和C1818T的等位基因频率无显著差异。对年龄和HD病程进行校正的多变量分析表明,在所有患者及女性患者中,G-395A的A等位基因携带者的尿酸显著高于GG基因型。在所有患者及男性患者中,C1818T的T等位基因携带者的低密度脂蛋白胆固醇显著低于CC基因型。
KLOTHO基因SNP G-395A和C1818T与HD患者的低密度脂蛋白胆固醇和尿酸有关。