Gene "COL11A1"
Found 1 record
Gene information
Gene symbol:
COL11A1
See related:
Ensembl: ENSG00000060718, Gene ID: 1301
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility(1)  
Detail：
  • Variant 1:
    COL11A1:c.4004C>T(p.Pro1335Leu)
    Gene:
    COL11A1
    Genomic location:
    chr1:103379918
    dbSNP ID:
    rs3753841
    Target disease:
    Angle-Closure Glaucoma(DOID_13550)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    gg vs aa: odds ratio 1.26, 95% confidence interval 1.13-1.41; gg vs ga + aa: odds ratio 1.24, 95% confidence interval 1.12-1.38 
    Effect:
    COL11A1 variant rs3753841 may confer higher susceptibility to PACG
    Reference:
    PMID25785070
    Title:
    A common genetic variant as an effect modifier for primary angle closure glaucoma.
    Species studied:
    Human
    Abstract:
    Epidemiological studies provide evidence of a genetic basis for primary angle closure glaucoma (PACG), and genome-wide association studies (GWAS) have identified various candidate genes as susceptibility loci. However, different results produced by previous studies make the role of a common genetic variant in the COL11A1 gene (rs3753841) remains elusive. Thus, we carried out a meta-analysis, attempting to determine the association of rs3753841 with PACG.