Table 1

DNA sequence variants within the COL1A1, COL5A1, COL11A1, COL11A2 and COL12A1 genes, which encode for the α1(I) chain of type I collagen, and the α1(V) chain of type V collagen, α1(XI) chain of type XI collagen, α2(XI) chain of type XI collagen and the α1(XII) chain of type XII collagen, respectively, tested for association with chronic AT, AR, CL/ACL, Sho Dis, TE and CTS

Gene and chromosomal locationVariantLocationATARCL/ACLSho DisTECTSReference
Individual genes (single variants and variant-variant interactions)
 COL1A1 (17q21)rs1800012 (G/T)SP1 binding site within intron 1 at nucleotide 1023X↓ TT (?)↓ TT*
↓ GG†
↓ TTX7 37–40
rs1107946 (G/T)Transcription factor binding site within promoter at -1997↑ G-T
rs1800012 (G/T)SP1 binding site within Intron 1
 COL5A1 (9q34)rs13946 (C/T)3′-UTRXX (?)X↓ TT↓ TT13 19 27 31 42 43
rs12722 (C/T)↓ CCX (?)↓ CC (F)↑ TT↓ CC†
rs71746744 (-/AGGG)↑ AGGG/AGGGX
rs16399 (ATCT/-)↑ -/-
rs1134170 (A/T)↑ TT
rs13946 (C/T)
rs12722 (C/T)
3′-UTR↓ T-C†‡
↓ T-W-C‡
8 19
 COL11A1 (1p21)rs3753841 (T/C)Exon 52, Leu1323Pro↑ T-C-T
rs1676486 (C/T)Exon 62, Pro1535Ser
 COL11A2 (6p21)rs1799907 (T/A)Intron 6
 COL12A1 (6q12-q13)rs970547 (A/G)Exon 65, Ser3058GlyX↑ AA (F)
X (M)
30 45
Gene-gene interactions
rs12722 (C/T)
rs970547 (A/G)
↑ T-A (F)
rs3753841 (T/C)
rs1676486 (C/T)
rs1799907 (T/A)
  • X, not associated; ↓, decreased risk; ↑, increased risk; (?), potentially associated or not associated but needs confirmation in larger cohorts.

  • *Other mechanisms of injury, except the phantom foot mechanism of injury in skiing.

  • †The phantom foot mechanism of injury in skiing.

  • ‡Two additional informative rare adjacent variants, namely rs14776422 (C/T) and rs55748801 (G/A), which have not been reported in a white population, were identified within the population group investigated in the CTS study. Since the genotyping method was unable to distinguish between these two variants, the CG wild-type alleles of these variants were designated as a W, while the three alternative combinations, CA, TG and TA, were designated as an M. The T-C haplotype in white populations is therefore equivalent to the T-W-C in other population groups, which contain the two additional rare variants.

  • AR, Achilles tendon rupture; AT, Achilles tendinopathy; CL/ACL, cruciate ligament/anterior cruciate ligament rupture; CTS, carpal tunnel syndrome; F, females; Sho Dis, shoulder dislocation; TE, tennis elbow; UTR, untranslated region.