rs1061237
This is a upstream gene variant variant in the COL1A1 gene.
▶ClinVar annotation
Ehlers-Danlos syndrome, arthrochalasia type; Infantile cortical hyperostosis; Osteogenesis imperfecta (OI)
View on ClinVar →▶Research that mentions this SNP (1)
▶The COL1A1 gene and high myopia susceptibility in JapaneseAssociationN=660Yumiko Inamori et al.(2007)· Human Genetics
This case-control association study examined 10 SNPs in the COL1A1 gene in 330 Japanese subjects with high myopia (≤-9.25 D) versus 330 controls, finding that rs2075555 (intron 11, P=0.0071, OR=1.36) and rs2269336 (5' upstream, P=0.0140, OR=1.31) were significantly associated with high myopia. A haplotype block (GGC/GGC) constructed from rs2075555, rs2269336, and rs1107946 showed the strongest association (OR=1.6, P=0.028), providing first evidence for COL1A1 as a candidate susceptibility gene for high myopia.
About COL1A1
This gene encodes the pro-alpha1 chains 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 VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
View all COL1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…