|
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 |
|
rs2228557
|
|
|
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 |
|
rs2228557
|
|
|
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 |
|
rs5749482
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs7943316
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CAT rs7943316 A/T, AA genotype, and A allele decreased the risk of KC.
|
30524988 |
2018 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs368666554
|
|
|
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 |
|
rs371541319
|
|
|
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 |
|
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 |
|
rs550526986
|
|
|
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 |
|
rs553460850
|
|
|
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 |
|
rs746197874
|
|
|
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 |
|
rs751398082
|
|
|
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 |
|
rs751398082
|
|
|
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 |
|
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 |