Association of single-nucleotide polymorphism in the FKBP5 gene with response to steroids in pediatric patients with primary nephrotic syndrome

作者：Du, Ni; Yang, Fang^*; Li, Liangzhi^*; Liu, Xiaoxiao; Sun, Liangzhong; Zhang, Sui; He, Xianhong; Tang, Yuewu; Shi, Jihong; Liu, Chunqiu; Zhang, Xianxiang

来源：Clinical Nephrology, 2017, 88(6): 338-343.

DOI：10.5414/CN109126

• single-nucleotide polymorphism
• nephrotic syndrome
• FKBP5 gene
• children

Aim: This study aimed to assess the association of single-nucleotide polymorphism (SNP) of FKBP5 with response to steroids in children with primary nephrotic syndrome (NS). Materials and methods: A total of 66 primary NS patients (cases) and 68 healthy individuals (controls) were enrolled in this study. The FKBP5 polymorphism rs4713916 (T/C) was analyzed by polymerase chain reaction (PCR) and sequencing after amplification of regions that potentially contain the SNP. The frequency of the FKBP5 (rs4713916) SNP as well as its relationship with response to steroids was investigated. Results: The frequencies of the "TT" genotype starkly differed between the cases and controls (p = 0.024). The TT genotype showed overtly different frequency in the steroid-dependent NS group compared with controls (p = 0.041). Conclusion: The current data indicate that assessment of FKBP5 mutations could provide a basis for the identification of primary NS patients more likely to be efficiently treated with steroids.

• 出版日期2017-12
• 单位暨南大学; 中山大学