|
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 |
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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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs12407427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results did prove a statistical association of both rs2228557 and rs12407427 genotypes (TT and CT + CC) and allele (T) with KTCN susceptibility in Iranian population.
|
31077021 |
2019 |
|
rs12407427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The findings disclosed that rs2228557C/T and rs12407427C/T polymorphisms significantly increased the risk of KTCN in measured (codominant1; p = 0.0001, codominant2; p = 0.0001, codominant3; p = 0.0006, dominant; p = 0.0001, over-dominant; p = 0.0005) and (codominant1; p = 0.0001, codominant3; p = 0.0005, recessive; p = 0.0001) inheritance patterns, respectively.
|
31077021 |
2019 |
|
rs77542162
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ABCA6 locus (rs77542162) was associated with keratoconus using the TwinsUK (odds ratio [OR], 0.50; 95% CI, 0.27-0.92; P = .03) and EPIC-Norfolk controls (OR, 0.39; 95% CI, 0.22-0.70; P = .002).
|
31246245 |
2019 |
|
rs6795735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggested a potential association of rs6795735 in the <i>ADAMTS9</i> gene and rs5749482 in the <i>TIMP3</i> gene in KC and that different associations may be gender specific.
|
31819893 |
2019 |
|
rs1130409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to determine the relationship between the genotypes of the c.444 T>G (rs1130409) and c.-468 T>G (rs1760944) polymorphisms in the APEX1 gene and the occurrence of two oxidative stress-related eye diseases: keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD).
|
26204393 |
2015 |
|
rs1760944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to determine the relationship between the genotypes of the c.444 T>G (rs1130409) and c.-468 T>G (rs1760944) polymorphisms in the APEX1 gene and the occurrence of two oxidative stress-related eye diseases: keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD).
|
26204393 |
2015 |
|
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 |
|
rs4434401
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Additional genotyping of 12 tightly spaced SNPs identified CAST SNP rs4434401 to be associated with KC in both familial and case-control panels with P values of 0.005 and 0.05, respectively, and with combined meta P value of familial and case-control cohorts of 0.002 or after Bonferroni correction of 0.04.
|
23449483 |
2013 |
|
rs7943316
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CAT rs7943316 A/T, AA genotype, and A allele decreased the risk of KC.
|
30524988 |
2018 |
|
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 |
|
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 |
|
rs55703767
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study indicates that in our population, the COL4A3 rs55703767 polymorphism decreased the risk of KC.
|
28197741 |
2017 |