Table 2: Selected SNP Candidates for Lumbar Disc Degeneration

Gene SNP* Chromosome Location Minor/Major Allele References
AGC1 rs1042631 15q26.1 Exon (L2141L) T/C [26]
AGC1 rs1516797 15q26.1 Intron G/T [26]
VDR rs10735810 12q13.11 Exon (M162T) C/T [37] [70]
VDR rs731236 12q13.11 Exon (I352I) C/T [37] [70]
COL1A1 rs2075555 17q21.33 Intron A/C [26] [29]
COL2A1 rs917055 12q13.11 Intron T/C [26]
COL3A1 rs2056156 2q32.2 Intron C/T [26]
COL9A1 rs696990 6q13 Intergenic G/A [26]
COL9A2 rs7533552 1p34.2 Exon (Q326R) G/A [26] [30] [31]
COL9A3 rs61734651 20q13.33 Exon (R103W) C/T [32] [33]
COL11A1 rs1463035 1p21.1 Intron G/A [26]
COL11A1 rs1676486 1p21.1 Exon (S1535P) A/G [34]
COL11A2 rs2072915 6p21.32 Upstream T/A [26]
IL1A rs2071375 2q13 Intron A/G [26] [42]
IL18R1 rs2287037 2q12.1 Upstream A/G [26]
IL18RAP rs1420100 2q12.1 Intron T/G [26]
IL18RAP rs1420106 2q12.1 Upstream T/C [26]
IL18RAP rs917997 2q12.1 Downstream A/G [26]
MMP3 rs72520913 11q22.2 Upstream -/A [38]
COX2(PTGS2) rs5277 1q31.1 Exon (V102V) C/G [43]
PTGS2(COX2) rs4140564 1q31.1 Upstream C/T [49]
CALM1 rs12885713 14q32.11 5’UTR C/T [47]
DVWA rs11718863 3p25.1 Exon T/A [48]
DVWA rs7639618 3p25.1 Exon T/C [48]
FZRP rs288326 2q32.1 Exon (R200W) A/G [46]
FZRP rs7775 2q32.1 Exon (R324G) G/C [46]
GDF5 rs143383 20q11.22 5’UTR C/T [48]

* Single-nucleotide polymorphism.