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中国新疆维吾尔族和哈萨克族人群的肾功能与klotho基因多态性

Renal function and klotho gene polymorphisms among Uygur and Kazak populations in Xinjiang, China.

作者信息

Xu Xinjuan, Liang Xiaohui, Hu Guangmei, Zhang Junshi, Lei Hong

机构信息

Department of Hypertension, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China (mainland).

出版信息

Med Sci Monit. 2015 Jan 5;21:44-51. doi: 10.12659/MSM.891213.

Abstract

BACKGROUND

The association of genetic polymorphisms of klotho gene with aging has not been thoroughly examined. Previous studies showed that longevity in the Uygurs was considerably greater than in Kazaks in Xinjiang. This study aimed to investigate the difference of renal function and Klotho gene polymorphisms between Kazak and Uygur normal populations in Xinjiang, China.

MATERIAL/METHODS: A total of 249 Uygur and 386 Kazak clinically normal subjects were included in this study. Four single-nucleotide polymorphisms (rs1207568, rs564481, rs9527025, and rs9536314) of the klotho gene were genotyped using the ABI SNaPshot method. Estimated glomerular filtration rate (eGFR) was calculated according to the Chinese simplified MDRD equation.

RESULTS

There were significant differences between Kazak and Uygur healthy populations in both allele frequencies and genotype distributions in rs9527025 and rs9536314 (P<0.05, respectively). When the subjects were divided into 2 groups according to the genotypes of the klotho gene polymorphism, in the GA+AA genotype distributions of the rs1207568, the differences I serum creatinine and estimated glomerular filtration rate between the Kazak and Uygur groups were statistically significant (P<0.05, respectively). In CC genotype of rs564481, serum creatinine was significantly higher in Kazaks compared with Uygurs (P<0.05). In GG genotype of rs9527025, serum creatinine was significantly higher in the Kazak group compared with the Uygur group (P<0.05), as well as in CG+CC genotype of rs9527025 (P<0.05). Serum creatinine was significantly higher in the Kazak group compared with the Uygur group in TT genotype of rs9536314 (P<0.05), as was GT+GG genotype of rs9536314. Haplotype analysis indicated that the frequencies of ACGT, GTGT, and GCCG haplotypes were significantly different between Kazak and Uygur healthy populations (P=0.04, P=0.018, P=0.000, respectively).

CONCLUSIONS

Significant differences in klotho gene rs9527025 and rs9536314 polymorphisms were found between the Uygur and Kazak populations.

摘要

背景

klotho基因的遗传多态性与衰老之间的关联尚未得到充分研究。先前的研究表明,新疆维吾尔族的寿命显著长于哈萨克族。本研究旨在调查中国新疆哈萨克族和维吾尔族正常人群之间的肾功能差异以及Klotho基因多态性。

材料/方法:本研究共纳入249名维吾尔族和386名哈萨克族临床正常受试者。采用ABI SNaPshot方法对klotho基因的4个单核苷酸多态性(rs1207568、rs564481、rs9527025和rs9536314)进行基因分型。根据中国简化的MDRD方程计算估计肾小球滤过率(eGFR)。

结果

rs9527025和rs9536314的等位基因频率和基因型分布在哈萨克族和维吾尔族健康人群之间存在显著差异(分别为P<0.05)。当根据klotho基因多态性的基因型将受试者分为2组时,在rs1207568的GA+AA基因型分布中,哈萨克族和维吾尔族组之间的血清肌酐和估计肾小球滤过率差异具有统计学意义(分别为P<0.05)。在rs564481的CC基因型中,哈萨克族的血清肌酐显著高于维吾尔族(P<0.05)。在rs9527025的GG基因型中,哈萨克族组的血清肌酐显著高于维吾尔族组(P<0.05),rs9527025的CG+CC基因型也是如此(P<0.05)。在rs9536314的TT基因型中,哈萨克族组的血清肌酐显著高于维吾尔族组(P<0.05),rs9536314的GT+GG基因型也是如此。单倍型分析表明,哈萨克族和维吾尔族健康人群之间ACGT、GTGT和GCCG单倍型的频率存在显著差异(分别为P=0.04、P=0.018、P=0.000)。

结论

维吾尔族和哈萨克族人群之间klotho基因rs9527025和rs9536314多态性存在显著差异。

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