|
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 |
|
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 |
|
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 |
|
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 |
|
rs752603642
|
|
|
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 |
|
rs45514100
|
|
|
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 |
|
rs45517234
|
|
|
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 |
|
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 |
|
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Also, the C/T and T as well as C/C genotypes and alleles of the c.580C>T polymorphism of the same gene displayed relationship with KC occurrence.
|
25356504 |
2014 |
|
rs373356672
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Also, the C/T and T as well as C/C genotypes and alleles of the c.580C>T polymorphism of the same gene displayed relationship with KC occurrence.
|
25356504 |
2014 |
|
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 |
|
rs528085780
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among missense variants, only one (rs528085780) has AAF ≤ 0.001 and was identified in one patient with sporadic KTCN.
|
26806788 |
2016 |
|
rs74315433
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Another heterozygous sequence variant (p.Gly160Val) in the second exon was found in two keratoconus patients.
|
28950846 |
2017 |
|
rs191047852
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Based on in vitro results, we demonstrated that c.2262A>C substitution in DOCK9, previously identified in KTCN-affected members of an Ecuadorian family, leads to a splicing aberration.
|
26641546 |
2015 |
|
rs7943316
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CAT rs7943316 A/T, AA genotype, and A allele decreased the risk of KC.
|
30524988 |
2018 |
|
rs387907063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four carriers of three BCS1-associated ZNF469 loss-of-function mutations (p.[Glu1392Ter], p.[Gln1930Argfs*6], p.[Gln1930fs*133]) were examined and none had keratoconus.
|
25564447 |
2015 |
|
rs2228555
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in our study, we found no association between COL4A4 rs2228555 polymorphism and the risk of KC.
|
25651396 |
2015 |
|
rs6609533
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, the TIMP-1 rs6609533 polymorphism was associated with an increased risk of KC.
|
28197741 |
2017 |
|
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 |
In contrast, our study lacked sufficient evidences to support the association of rs1800449/rs2288393 with keratoconus across populations.
|
26713757 |
2015 |
|
rs779148597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the keratoconus cohort, a novel heterozygous pathogenic mutation in exon 7 (c.1920G > T; p.Gln640His) of ZEB1 was identified in a family affected with keratoconus and Fuchs' endothelial corneal dystrophy.
|
23599324 |
2013 |
|
rs1800629
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we investigated the role of a promoter region polymorphism rs1800629 (-308G>A) in the inflammatory pathway component TNF-α and its effects on the expression of TNF-α and downstream molecules tumor necrosis factor receptor 1 and 2 (TNFR1 and TNFR2), v-rel avian reticuloendotheliosis viral oncogene homolog A (RELA), and interleukin 6 (IL-6) in KC development.
|
28702675 |
2017 |
|
rs267597889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China.
|
28950846 |
2017 |