title: 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.affiliation: a School of Traditional Chinese Medicine, Southern Medical University , Guangzhou , China .
authors.forename: Lu
authors.initials: L
authors.lastname: Lu
authors.affiliation: a School of Traditional Chinese Medicine, Southern Medical University , Guangzhou , China .
authors.forename: Xiao-ming
authors.initials: XM
authors.lastname: Sun
authors.affiliation: a School of Traditional Chinese Medicine, Southern Medical University , Guangzhou , China .|b Department of Nephrology , Southern Medical University TCM-Integrated Hospital , Guangzhou , China .|c Department of Traditional Chinese Medicine , ZhuJiang Hospital, Southern Medical University , Guangzhou , China , and.
authors.forename: Yi
authors.initials: Y
authors.lastname: Yin
authors.affiliation: a School of Traditional Chinese Medicine, Southern Medical University , Guangzhou , China .|b Department of Nephrology , Southern Medical University TCM-Integrated Hospital , Guangzhou , China .
authors.forename: Yan-feng
authors.initials: YF
authors.lastname: Huang
authors.affiliation: c Department of Traditional Chinese Medicine , ZhuJiang Hospital, Southern Medical University , Guangzhou , China , and.
authors.forename: Ming
authors.initials: M
authors.lastname: Wang
authors.affiliation: d Department of Endocrinology , The Third Affiliated Hospital, Southern Medical University , Guangzhou , China.
authors.forename: Heng
authors.initials: H
authors.lastname: Wan
authors.affiliation: a School of Traditional Chinese Medicine, Southern Medical University , Guangzhou , China .|b Department of Nephrology , Southern Medical University TCM-Integrated Hospital , Guangzhou , China .|c Department of Traditional Chinese Medicine , ZhuJiang Hospital, Southern Medical University , Guangzhou , China , and.
authors.forename: Lian-Bo
authors.initials: LB
authors.lastname: Wei
authors.affiliation: a School of Traditional Chinese Medicine, Southern Medical University , Guangzhou , China .
authors.forename: Wei
authors.initials: W
authors.lastname: Xiao
mesh_terms: D000483:Alleles; D000596:Amino Acids / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011507:Proteinuria / Q000235:genetics*; D017594:Publication Bias
chemical_list: D000596:Amino Acids; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein
keywords: Amino acid mutations; SNP; meta-analysis; proteinuria