|
rs9938149
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs4894535
|
|
|
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 |
|
rs4894535
|
|
|
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 |
|
rs7044529
|
|
|
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 |
|
rs7044529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Meta P values of rs1536482 and rs7044529</span> in the keratoconus cohorts were 1.5 × 10(-4) (odds ratio [OR] = 1.30) and 2.9 × 10(-3) (OR = 1.39).
|
23513063 |
2013 |
|
rs9938149
|
|
|
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 |
|
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 |
|
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 |
|
rs17576
|
|
|
0.020 |
GeneticVariation |
BEFREE |
<b>Conclusions</b>: This study supports the hypothesis of a functional role for <i>COL4A3</i> (rs55703767, G/T), <i>MMP-9</i> (rs17576, A/G) and <i>TIMP-1</i> (rs6609533, A/G) SNPs in the pathogenesis of keratoconus.
|
31397194 |
2020 |
|
rs55703767
|
|
|
0.020 |
GeneticVariation |
BEFREE |
<b>Conclusions</b>: This study supports the hypothesis of a functional role for <i>COL4A3</i> (rs55703767, G/T), <i>MMP-9</i> (rs17576, A/G) and <i>TIMP-1</i> (rs6609533, A/G) SNPs in the pathogenesis of keratoconus.
|
31397194 |
2020 |
|
rs6609533
|
|
|
0.020 |
GeneticVariation |
BEFREE |
<b>Conclusions</b>: This study supports the hypothesis of a functional role for <i>COL4A3</i> (rs55703767, G/T), <i>MMP-9</i> (rs17576, A/G) and <i>TIMP-1</i> (rs6609533, A/G) SNPs in the pathogenesis of keratoconus.
|
31397194 |
2020 |
|
rs4434401
|
|
|
0.020 |
GeneticVariation |
BEFREE |
SNP rs4434401, whose contribution to KC susceptibility has been established in Caucasians, still kept its effect in our population.
|
29428799 |
2018 |
|
rs17576
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings showed that the rs55703767G/T polymorphism decreased the risk of KC (OR = 0.26, 95% CI = 0.08-0.82, P = 0.022). rs17576A/G, associated with KC and the A allele, was significantly overrepresented in healthy individuals. rs6609533A/G (X-chromosome) increased the risk of KC in females (OR = 2.27, 95% CI = 1.06-4.76, P = 0.036).
|
28197741 |
2017 |
|
rs55703767
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings showed that the rs55703767G/T polymorphism decreased the risk of KC (OR = 0.26, 95% CI = 0.08-0.82, P = 0.022). rs17576A/G, associated with KC and the A allele, was significantly overrepresented in healthy individuals. rs6609533A/G (X-chromosome) increased the risk of KC in females (OR = 2.27, 95% CI = 1.06-4.76, P = 0.036).
|
28197741 |
2017 |