rs11225395
This is a upstream gene variant variant in the MMP8 gene.
▶Research that mentions this SNP (4)
▶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.
▶A novel multi‐locus genetic risk score identifies patients with higher risk of generalized aggressive periodontitisAssociationN=449Wenjing Li et al.(2020)· Journal of Periodontology
A case-control study of 335 generalized aggressive periodontitis (GAgP) patients and 114 healthy controls identified 4 SNPs significantly associated with GAgP risk: MMP8 rs11225395 (OR=1.40), EGF rs2237051 (OR=1.41), PPARα rs4253623 (OR=1.53), and APOE rs429358 (OR=1.79). A multi-locus genetic risk score based on these variants improved disease prediction, with each additional risk allele conferring ~50% increased risk (OR=1.50), and the GRS combined with conventional risk factors improved discrimination from AUC 0.695 to 0.740.
▶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.
▶Replication study for reported SNP associations with breast cancer survivalAssociationN=6,307Alicia Beeghly-Fadiel et al.(2012)· Journal of Cancer Research and Clinical Oncology
Two-stage replication study of 9 SNPs in 8 genes previously associated with breast cancer survival in 6,307 Chinese women (Stage 1: 1,115 cases, Stage 2: 5,192 cases). MMP7 rs11225297 and MMP8 rs11225395 showed consistent associations with overall survival, with rare alleles conferring 20-40% improved survival (HR 0.4-0.6 and 0.6 for TT genotypes respectively, p<0.001).
About MMP8
This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
View all MMP8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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