Variant "COL15A1:rs10519"
Search result: 1 record
Variant information
Gene:
Variant:
COL15A1:rs10519 
dbSNP ID:
rs10519  
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail:
  • Target disease:
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Pedigree analysis 
    Effect:
    genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG.
    Reference:
    Title:
    Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma.
    Species studied:
    Human
    Abstract:
    Primary open angle glaucoma (POAG) is a genetically and phenotypically complex disease that is a leading cause of blindness worldwide. Previously we completed a genome-wide scan for early-onset POAG that identified a locus on 9q22 (GLC1J). To identify potential causative variants underlying GLC1J, we used targeted DNA capture followed by high throughput sequencing of individuals from four GLC1J pedigrees, followed by Sanger sequencing to screen candidate variants in additional pedigrees. A mutation likely to cause early-onset glaucoma was not identified, however COL15A1 variants were found in the youngest affected members of 7 of 15 pedigrees with variable disease onset. In addition, the most common COL15A1 variant, R163H, influenced the age of onset in adult POAG cases. RNA in situ hybridization of mouse eyes shows that Col15a1 is expressed in the multiple ocular structures including ciliary body, astrocytes of the optic nerve and cells in the ganglion cell layer. Sanger sequencing of COL18A1, a related multiplexin collagen, identified a rare variant, A1381T, in members of three additional pedigrees with early-onset disease. These results suggest genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG.