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.