rs4954218
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Independent replication of association between two SNPs and keratoconus supports the association of these loci with the risks for the disease development, while the effect of rs4954218 warrants further investigation.
|
28207827 |
2017 |
rs4954218
|
|
|
0.740 |
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 |
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 |
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 |
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 |
rs1324183
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study confirmed the association of SNP rs1324183 in <i>MPDZ-NF1B</i> with keratoconus and revealed the association of this SNP with keratoconus severity and corneal parameters.
|
30002070 |
2018 |
rs9938149
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Rare variants in ZNF469 do not contribute to keratoconus susceptibility and do not account for the association at rs9938149.
|
29228253 |
2017 |
rs1324183
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The replication association of rs1324183 (MPDZ-NF1B) with KC in our population and the results, which are identical to those in different populations, suggest that rs1324183 (MPDZ-NF1B) is a common genetic risk for KC and should be further investigated.
|
25675348 |
2015 |
rs1536482
|
|
|
0.030 |
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 |
rs1800449
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our study demonstrated that the LOX rs1800449 genotypes (AA and GA + AA) and allele (A) appears to confer risk for susceptibility to keratoconus.
|
24502826 |
2015 |
rs1800449
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In contrast, our study lacked sufficient evidences to support the association of rs1800449/rs2288393 with keratoconus across populations.
|
26713757 |
2015 |
rs2288393
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The current study aimed to investigate the possible associations between two LOX polymorphisms, rs1800449 and rs2288393, and susceptibility to keratoconus.
|
24502826 |
2015 |
rs2288393
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In contrast, our study lacked sufficient evidences to support the association of rs1800449/rs2288393 with keratoconus across populations.
|
26713757 |
2015 |
rs2721051
|
|
|
0.030 |
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 |
rs2956540
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This meta-analysis suggested that two LOX variants, rs2956540 and rs10519694, may affect individual susceptibility to keratoconus, while distinct heterogeneity existed within this locus.
|
26713757 |
2015 |
rs2956540
|
|
|
0.030 |
GeneticVariation |
BEFREE |
SNP rs1324183 located in MPDZ-NF1B was associated with an increased risk of KC (OR=3.108, 95% CI=1.366-7.072, p=0.005), and SNP rs2956540 in the LOX gene may confer a reduced risk of KC with a borderline p value in our population (OR=0.664, 95% CI=0.447-0.986, p=0.042).
|
25675348 |
2015 |
rs2956540
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This first independent association validation of rs2956540:G>C and rs3735520:G>A suggests that these SNPs may serve as genetic risk markers for KC in individuals of European descent.
|
25735481 |
2015 |
rs4894535
|
|
|
0.030 |
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 |
rs7044529
|
|
|
0.030 |
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 |