rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267602852
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs530391015
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs71785313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs748106387
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs75462234
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs866294686
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Identification of R229Q mutations may be of clinical importance, as NPHS2-associated disease appears to define a subgroup of FSGS patients unresponsive to corticosteroids.
|
12464671 |
2002 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The common variant R229Q of podocin, recently associated with late-onset focal segmental glomerulosclerosis, had an overall allelic frequency of 4.2% versus 2.5% in controls.
|
12707396 |
2003 |
rs1267969615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the influence of angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) M235T and angiotensin-II-type-1 receptor (AT1R) A1166C genetic polymorphisms on the clinical course of focal segmental glomerulosclerosis (FSGS).
|
14610337 |
2003 |
rs699
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the influence of angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) M235T and angiotensin-II-type-1 receptor (AT1R) A1166C genetic polymorphisms on the clinical course of focal segmental glomerulosclerosis (FSGS).
|
14610337 |
2003 |
rs1800471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that TGF-beta(1) gene Arg(25)-->Pro, TNF alpha gene G-308A and IL-6 gene G-174C polymorphisms are not risk factors or markers of progression in focal segmental glomerulosclerosis.
|
15308875 |
2004 |
rs1799937
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group.
|
15687485 |
2005 |
rs2234591
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group.
|
15687485 |
2005 |
rs2301254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group.
|
15687485 |
2005 |
rs6508
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group.
|
15687485 |
2005 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent.
|
16481888 |
2006 |
rs1241977606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent.
|
16481888 |
2006 |
rs74315342
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R138Q carriers were more frequent among FSGS cases relative to controls (OR = 4.9, P = 0.06), but heterozygosity for the other four missense mutations was equally distributed among FSGS cases and controls.
|
17942957 |
2007 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS).
|
18726620 |
2008 |
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution.
|
18164029 |
2008 |
rs121908416
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution.
|
18164029 |
2008 |
rs1422329310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also screened for the mitochondrial A3243G DNA transition associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and occasionally FSGS.
|
18443213 |
2008 |
rs188942711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS).
|
18726620 |
2008 |
rs748203170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight of these (p.R138Q, p.V180M, p.R229Q, p.E237Q, p.A242V, p.A284V, p.L327F and the frameshift 855-856 delAA) are alleles previously reported to cause FSGS in either the homozygous or compound heterozygous states, while the remaining 7 (p.R10T, p.V127W, p.Q215X, p.T232I, p.L270F, p.L312V and the frameshift 397delA) are novel alleles that have not been demonstrated previously.
|
18823551 |
2008 |