|Disease Association||Defects in COL1A2 are a cause of osteogenesis imperfecta type IV (OI-IV) (MIM:166220); also known as osteogenesis imperfecta with normal sclerae. OI-IV presents with moderate to mild deformity and variable short stature. Dentinogenesis imperfecta is common and hearing loss occurs in some.|
[PMID 19426706] Heterozygosity (but not homozygosity) for a Coding SNP in COL1A2 Confers a Lower BMD and an Increased Stroke Risk
[PMID 19559927] The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans
[PMID 21602843] No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women
[PMID 16361613] The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD).
[PMID 18996919] Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
[PMID 20140262] Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.
[PMID 23036172] The rs42524 COL1A2 polymorphism is associated with primary intracerebral hemorrhage in a Chinese population
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 23800505] Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany