|
rs9444348
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
|
rs9348883
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
|
29903748 |
2018 |
|
rs9273542
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
|
31263063 |
2019 |
|
rs869025224
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs755622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The current study aimed to evaluate the relationshipbetween MIF -173 G>C (rs755622) variant and susceptibility to NS.
|
31422388 |
2019 |
|
rs74315343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this case report, we describe a 9-year-old girl with the R138X NPHS2 mutation who presented with recurrent nephrotic syndrome 4 years after renal transplantation from a deceased donor, and was treated with plasmapheresis with a partial response.
|
17109732 |
2007 |
|
rs699
|
|
|
0.010 |
GeneticVariation |
BEFREE |
AGT-M235T genotype was associated with the presence of nephrotic syndrome (p < 0.05), correlated to the number of antihypertensive drugs agents taken (p < 0.01) and influenced the rate of deterioration of renal function (p < 0.05).
|
15031629 |
2004 |
|
rs61747728
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Recently, a functional polymorphism of this gene (R229Q) was described and associated with a maturity-onset form of nephrotic syndrome.
|
14871423 |
2004 |
|
rs61747728
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In contrast, a patient who carries the R229Q variant in combination with a pathogenic variant in exons 1 to 6 is unlikely to develop nephrotic syndrome.
|
30241959 |
2019 |
|
rs61747728
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.
|
25599733 |
2015 |
|
rs61747728
|
|
|
0.060 |
GeneticVariation |
BEFREE |
R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.
|
24072153 |
2013 |
|
rs61747728
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In conclusion, our meta-analysis suggests that for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome and that the p.R229Q allele cannot currently be considered a risk factor for predicting FSGS.
|
24715228 |
2014 |
|
rs61747728
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Homozygous p.R229Q mutation in the NPHS2 gene was found in two children with childhood-onset NS.
|
22565185 |
2012 |
|
rs6020178
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
|
rs59882675
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
|
29903748 |
2018 |
|
rs552953108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We evaluated 53 children with NS and 41 paediatric controls for prevalence of the factor V mutation Arg506-->Gln (factor V Leiden), the prothrombin variant (20210G-->A), and homozygosity for Ala677-->Val in the methylenetetrahydrofolate reductase gene (MTHFR).
|
9835442 |
1998 |
|
rs487575
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
|
31263063 |
2019 |
|
rs4642516
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
|
30012571 |
2018 |
|
rs4431401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
|
rs437168
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.
|
25599733 |
2015 |
|
rs397514479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A diagnostic custom-designed panel-gene test including 30 genes for NS revealed homozygous c.1058C > A [rs397514479] in exon nine of COQ6.
|
30682496 |
2020 |
|
rs33389
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 118 children diagnosed with NS who initially responded to oral GC treatment [steroid-responsive nephrotic syndrome (SRNS) group] and 136 healthy children for three intron B single nucleotide polymorphisms of NR3C1, namely Bcl I (C/G), rs33389 (C/T) and rs33388 (A/T).
|
18343955 |
2008 |
|
rs33388
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 118 children diagnosed with NS who initially responded to oral GC treatment [steroid-responsive nephrotic syndrome (SRNS) group] and 136 healthy children for three intron B single nucleotide polymorphisms of NR3C1, namely Bcl I (C/G), rs33389 (C/T) and rs33388 (A/T).
|
18343955 |
2008 |
|
rs3124599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
|
rs3124591
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |