|
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 |
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 |
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 |
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 |
|
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 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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs148957473
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
|
18216574 |
2008 |
|
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 |
|
rs1536482
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).
|
24265017 |
2013 |
|
rs1536482
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Meta P values of rs1536482</span> and rs7044529 in the keratoconus cohorts were 1.5 × 10(-4) (odds ratio [OR] = 1.30) and 2.9 × 10(-3) (OR = 1.39).
|
23513063 |
2013 |
|
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 |
|
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 |
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 |
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 |
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 |
We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)).
|
23291589 |
2013 |
|
rs2721051
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).
|
24265017 |
2013 |