The amino acid mutations of the podocin in proteinuria: a meta-analysis.

Abstract

While many previous studies have reported an association between the single-nucleotide polymorphisms (SNPs) of the podocin and proteinuria occurred, a conclusive relationship has not been defined in every oligoallelic state of amino acid (AA) mutations in podocin. In this study, we performed a meta-analysis of the published data to investigate the impact of the oligoallelic AA mutations of the podocin on proteinuria; a total 16 AA mutations were investigated for oligoallelic pathogenicity. Despite significant heterogeneity within some of the comparisons, the results revealed significantly higher risks of proteinuria in early-onset (onset age <16) individuals for five mutations (P118L, R138Q, R168H, V180M, and V260E), and in all onset ages individuals for five mutations (R138Q, G140X, R229Q, V260E, and V290M) compared to non-variant individuals. We also tested the steroid response in individuals with R229Q and E237Q. No statistically significant differences in the two mutations carrier rate were observed between steroid resistance patients and controls. No AA mutation was selected for meta-analysis on the recurrence of proteinuria after renal transplantation as lack of control data. In conclusion, our meta-analysis tested the pathogenicity of the oligoallelic AA mutations in podocin and suggested the potential causative mutations, and the alleles showing an association with protein susceptibility. The sensitivity and specificity of each causative mutation are pending further testing.

• Authors: Lu Lu, Xiao-ming Sun, Yi Yin, Yan-feng Huang, Ming Wang, Heng Wan, Lian-Bo Wei, Wei Xiao
• Journal: Renal failure (Ren Fail) Vol. 37 Issue 8 Pg. 1329-37 ( 2015) ISSN: 1525-6049 [Electronic] England
• PMID: 26211502 (Publication Type: Journal Article, Meta-Analysis, Research Support, Non-U.S. Gov't)

Chemical References

• Amino Acids
• Intracellular Signaling Peptides and Proteins
• Membrane Proteins
• NPHS2 protein

Topics

• Alleles
• Amino Acids (genetics)
• Heterozygote
• Humans
• Intracellular Signaling Peptides and Proteins (genetics)
• Membrane Proteins (genetics)
• Mutation
• Nephrotic Syndrome (genetics)
• Polymorphism, Single Nucleotide
• Proteinuria (genetics)
• Publication Bias