|
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 |
|
rs74315432
|
|
|
0.030 |
GeneticVariation |
BEFREE |
One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding.
|
11978762 |
2002 |
|
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 |
|
rs140122268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta analysis of reports on an association of p.D144E change with keratoconus phenotype was performed.
|
17960127 |
2007 |
|
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 |
|
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 |
|
rs1143627
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The C allele of rs16944 (-511C>T, p=0.022, odds ratio of risk [OR]=1.46, 95% confidence intervals [CI] 0.94<2.27) and the T allele of rs1143627 (-31T>C, p=0.025, OR=1.43, 95% CI 0.92<2.22) were associated with a significantly increased risk of keratoconus in Korean patients.
|
19043479 |
2008 |
|
rs16944
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The C allele of rs16944 (-511C>T, p=0.022, odds ratio of risk [OR]=1.46, 95% confidence intervals [CI] 0.94<2.27) and the T allele of rs1143627 (-31T>C, p=0.025, OR=1.43, 95% CI 0.92<2.22) were associated with a significantly increased risk of keratoconus in Korean patients.
|
19043479 |
2008 |
|
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 |
|
rs74315433
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The change in p.G160D was observed in two patients with sporadic keratoconus.
|
19763142 |
2010 |
|
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 |
|
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 |
|
rs61816761
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also studied the expression of filaggrin in normal and KC cornea and analysed 2 prevalent loss-of-function FLG alleles (R501X and 2282del4) in a KC population.
|
21701148 |
2011 |
|
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 |
|
rs4954218
|
|
|
0.740 |
GeneticVariation |
BEFREE |
These findings suggest SNP rs4954218, located near the RAB3GAP1 gene, previously reported to be associated with corneal malformation, is a potential susceptibility locus for keratoconus.
|
21979947 |
2012 |
|
rs4954218
|
|
|
0.740 |
GeneticVariation |
GWASCAT |
These findings suggest SNP rs4954218, located near the RAB3GAP1 gene, previously reported to be associated with corneal malformation, is a potential susceptibility locus for keratoconus.
|
21979947 |
2012 |
|
rs6430585
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
|
21979947 |
2012 |
|
rs8111998
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
|
21979947 |
2012 |
|
rs1800449
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Sequencing of LOX exons in a subset of keratoconus patients identified two polymorphisms, rs1800449 and rs2288393, located in LOX transcripts I and II, associated with keratoconus in case-control and family samples with a meta P value of 0.02.
|
22661479 |
2012 |
|
rs2288393
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Sequencing of LOX exons in a subset of keratoconus patients identified two polymorphisms, rs1800449 and rs2288393, located in LOX transcripts I and II, associated with keratoconus in case-control and family samples with a meta P value of 0.02.
|
22661479 |
2012 |
|
rs191047852
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results suggest that c.2262A>C (p.Gln754His) mutation in DOCK9 may contribute to the KTCN phenotype in the large KTCN-014 family.
|
22045297 |
2012 |
|
rs4954218
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Although the mechanism of disease association is yet to be determined, SNP rs4954218 is associated consistently with keratoconus and likely tags a functional variant that contributes to disease susceptibility.
|
23833071 |
2013 |
|
rs1324183
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The SNPs rs1324183 in the MPDZ-NF1B gene and rs9938149 (between BANP and ZNF4659) were associated with KC in this independent cohort, but their association was via a non-corneal curvature route.
|
24265017 |
2013 |