|
rs74315433
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Another heterozygous sequence variant (p.Gly160Val) in the second exon was found in two keratoconus patients.
|
28950846 |
2017 |
|
rs74315433
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The change in p.G160D was observed in two patients with sporadic keratoconus.
|
19763142 |
2010 |
|
rs74315433
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%).
|
18626569 |
2008 |
|
rs74315433
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Two other sequence changes (L159M and G160D) were associated with keratoconus and PPD, respectively, and involved a region adjacent to the homeodomain.
|
11978762 |
2002 |
|
rs148957473
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The previously reported c.731A>G (p.His244Arg) was detected in a patient with sporadic keratoconus, and not present in the controls.
|
23592923 |
2013 |
|
rs148957473
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Taken together, our results suggest that p.R166W and p.H244R could have possible pathogenic influences on KTCN.
|
22171159 |
2011 |
|
rs74315432
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Taken together, our results suggest that p.R166W and p.H244R could have possible pathogenic influences on KTCN.
|
22171159 |
2011 |
|
rs148957473
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
|
18216574 |
2008 |
|
rs74315432
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
|
18216574 |
2008 |
|
rs74315432
|
|
|
0.030 |
GeneticVariation |
BEFREE |
One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding.
|
11978762 |
2002 |
|
rs6050307
|
|
|
0.020 |
GeneticVariation |
BEFREE |
SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC.
|
25675348 |
2015 |
|
rs6050307
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23).
|
23289806 |
2013 |
|
rs267597889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China.
|
28950846 |
2017 |
|
rs12480307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23).
|
23289806 |
2013 |
|
rs56157240
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23).
|
23289806 |
2013 |
|
rs771561481
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Molecular analysis identified the VSX1 mutation Q175H in the affected brother and in the mother who had neither VKC nor keratoconus but only the VSX1 Q175H sequence change.
|
21365019 |
2011 |
|
rs6138482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We did discover a significant association of 627+23G>A polymorphism distribution (VSX1) with unrelated patients diagnosed with the hereditary form of KC.
|
20023586 |
2010 |
|
rs201716527
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%).
|
18626569 |
2008 |
|
rs140122268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta analysis of reports on an association of p.D144E change with keratoconus phenotype was performed.
|
17960127 |
2007 |
|
rs74315434
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two other sequence changes (L159M and G160D) were associated with keratoconus and PPD, respectively, and involved a region adjacent to the homeodomain.
|
11978762 |
2002 |