SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Disease: Keratoconus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0022578
Disease:
Keratoconus 		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
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0022578
Disease:
Keratoconus 		0.020 GeneticVariation BEFREE However, the TIMP-1 rs6609533 polymorphism was associated with an increased risk of KC. 28197741 2017
dbSNP: rs6609533
rs6609533
Entrez Id: 6853;7076;100616147
Gene Symbol: SYN1;TIMP1;MIR4769
SYN1;TIMP1;MIR4769
CUI: C0022578
Disease:
Keratoconus 		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