MMP12 and ataxia telangiectasia: Furthermore, several genetic case-control association studies have identified sequence variants within the MMP1 (rs1799750), MMP3 (rs679620, rs591058, rs650108, rs3025058), MMP10 (rs486055) and MMP12 (rs2276109) genes, which are all located on chromosome 11q22 [15], to be associated with Achilles tendinopathy (AT) [16,17,18] and anterior cruciate ligament (ACL) rupture [19,20].