LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Disease: Keratoconus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2956540
rs2956540
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C0022578
Disease:
Keratoconus 		0.030 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
dbSNP: rs2956540
rs2956540
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE SNP rs1324183 located in MPDZ-NF1B was associated with an increased risk of KC (OR=3.108, 95% CI=1.366-7.072, p=0.005), and SNP rs2956540 in the LOX gene may confer a reduced risk of KC with a borderline p value in our population (OR=0.664, 95% CI=0.447-0.986, p=0.042). 25675348 2015
dbSNP: rs2956540
rs2956540
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE This first independent association validation of rs2956540:G>C and rs3735520:G>A suggests that these SNPs may serve as genetic risk markers for KC in individuals of European descent. 25735481 2015