|
rs1003918
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, we investigated the association between genotypes and haplotypes of the g.29661G>A polymorphism (rs1003918) and the g.29059C>T polymorphism (rs1052536) of the LIG3 gene and the occurrence of KC and FECD in patients with FECD (258 individuals) or KC (283) and ethnically matched controls (300).
|
25817347 |
2015 |
|
rs1050450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, in GPX-1 rs1050450 C/T polymorphism, T allele was associated with an increased risk of KC in our population.
|
30524988 |
2018 |
|
rs10519694
|
|
|
0.010 |
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 |
|
rs1052536
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, we investigated the association between genotypes and haplotypes of the g.29661G>A polymorphism (rs1003918) and the g.29059C>T polymorphism (rs1052536) of the LIG3 gene and the occurrence of KC and FECD in patients with FECD (258 individuals) or KC (283) and ethnically matched controls (300).
|
25817347 |
2015 |
|
rs1054765878
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Segregation analysis revealed that variants c.475T>G in SKP1, c.671G>A in PROB1, and c.527G>A in IL17B in the 5q31.1-q35.3 linkage region, and c.850G>A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied KTCN family.
|
27703147 |
2016 |
|
rs1114167279
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Segregation analysis revealed that variants c.475T>G in SKP1, c.671G>A in PROB1, and c.527G>A in IL17B in the 5q31.1-q35.3 linkage region, and c.850G>A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied KTCN family.
|
27703147 |
2016 |
|
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 |
|
rs1136410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neither the g.46438521G>C polymorphism of the Nei endonuclease VIII-like 1 (NEIL1) nor the c.2285T>C polymorphism of the poly(ADP-ribose) polymerase-1 (PARP-1) was associated with KC.
|
25356504 |
2014 |
|
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 |
|
rs1143627
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The TT genotype of rs1143627 was weakly associated with an increased risk of kerat</span>oconus (p=0.033, pc=0.099, odds ratio=1.52).
|
23592922 |
2013 |
|
rs118203673
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC.
|
29261847 |
2017 |
|
rs121908120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that rs121908120 increases the risk of keratoconus two times (odds ratio 2.03, P = 5.41 × 10(-5)).
|
26049155 |
2015 |
|
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 |
|
rs12480307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23).
|
23289806 |
2013 |
|
rs1274585667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New detected ZNF 469 P873T and Q2188H heterozygote coding variants in isolated advance keratoconus patients may be associated with the disease pathogenesis.
|
28622062 |
2017 |
|
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 |
|
rs140122268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta analysis of reports on an association of p.D144E change with keratoconus phenotype was performed.
|
17960127 |
2007 |
|
rs1420366140
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient with KC with the c.3466G>A mutation was also shown to carry one dedicator of cytokinesis 9 (<i>DOCK9</i>) mutation (c.1940C>T).
|
28484309 |
2017 |
|
rs143168379
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two heterozygous missense TSC1 variants g.132896322A>T (c.3408A>T, p.Asp1136Glu) and g.132896452G>A (c.3278G>A, p.Arg1093Gln) were identified in three patients with nonsyndromic KC.
|
29261847 |
2017 |
|
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 |