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. 2022 Nov 3;23(21):13479. doi: 10.3390/ijms232113479

Table 2.

Table of gene mutations associated with diseases inducing spinal stenosis. Unknown (UK) associations are also noted.

Disease Gene Name Gene ID Reference SNP Location Variation Type Alleles Associated Signaling Factors Refs. Other Conditions Associated with Allele
Ossification of the posterior longitudinal ligament TGF-β1 7040 rs1800470 19p:41353016 SNV G > A, C TGF-β1 [7,8] Cystic fibrosis [9]
BMP2 650 rs1555785715 20p:6778468 SNV G > T BMP2 [8] Facial dysmorphism [10]
Hypertrophy and ossification of the ligamentum flavum UK UK UK UK UK UK Hedgehog and BMP [11] UK
TGF-β1 7040 UK UK UK UK TGF-β1 [12] UK
FJ osteoarthritis TGF-β1 7040 UK UK UK UK TGF-β1 [13] UK
FOXC1 2296 UK UK UK UK Wnt/β-catenin [14] UK
IVD herniation COL1A1 1277 rs1800012 17p:50200388 SNV C > A COL1 [15] Arthrochalasia, Type 1 [16]
COL1A2 1278 UK UK UK UK COL1 [17] Ehlers-Danlos syndrome [18]
Achondroplasia FGFR3 2261 rs28931614 4p:1804392 SNV G > A, C FGFR3 [19] Decreased bone elongation [19]
FGFR3 2261 rs267606809 4p:1804384 SNV T > C, G FGFR3 [20] Upper airway obstruction [20]
FGFR3 2261 rs121913114 4p:1801930 SNV A > G, T FGFR3 [20] Pulmonary hypoplasia [20]
FGFR3 2261 rs75790268 4p:1804377 SNV G > T FGFR3 [20] Rhizomelia [20]