rs4729131
This variant is located in the COL1A2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesAssociationN=949David P. Dimasi et al.(2010)· Human Genetics
A candidate gene association study identifying quantitative trait loci for central corneal thickness (CCT) in normal individuals and osteogenesis imperfecta patients. Polymorphism rs2696297 in COL1A1 (P = 0.003) and a three-SNP haplotype in COL1A2 (P = 0.007) were significantly associated with CCT variation in a cohort of 949 normal Australian subjects. OI patients had significantly thinner corneas (450.7 ± 42.8 μm vs 539.6 ± 32.7 μm, P < 0.001).
About COL1A2
This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
View all COL1A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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