rs970547
This is a variant in the COL12A1 gene that changes a glycine to an serine.
▶ClinVar annotation
Bethlem myopathy 2 (BTHLM2); Ullrich congenital muscular dystrophy 2 (UCMD2); not specified
View on ClinVar →▶Research that mentions this SNP (2)
▶Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament rupturesReviewN=9,720Mary‐Jessica N. Laguette et al.(2020)· Journal of Orthopaedic Research
This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.
▶Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populationsAssociationN=890Colleen J. Saunders et al.(2013)· Journal of Orthopaedic Research
PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.
About COL12A1
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
View all COL12A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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