Inherited genetic predisposition and imaging concordance in degenerative lumbar scoliosis patients and their descendants

Offspring consistently exhibit similar imaging features as their parents in cases of degenerative lumbar scoliosis (DLS). Nevertheless, the role of genetic factors in the pathogenesis of DLS remains uncertain. A prospective analysis was conducted on 35 patients with DLS and their 36 offspring. Genomic DNA was extracted from 71 blood samples for gene mutation analysis using whole exome sequencin. Various demographic and imaging parameters were compared. In 11 pedigrees of the 35 family members with DLS, 13 suspected pathogenic genes were identified. Among the 35 DLS patients, 11/35(31.5%) exhibited susceptibility gene mutations (mutant group), while 24/35(68.5%) had no pathogenic gene mutations (non-mutant group). AVR was more severe in mutant group than that in no-mutant group (p < 0.05). Among the 36 offspring, 11/36(30.6%) cohorts presented susceptibility genes (mutant group), 25/36(69.4%) cohorts presented no pathogenic genes (no-mutant group). More cohorts in the mutant group presented vertebral rotation (72.8%) and scoliosis (45.5%) than those (24%), (12%) in the no-mutant group, respectively (p < 0.05). Among the 36 offspring, 8/36(22.2%) presented scoliosis (study group), they all presented the same scoliosis orientation and apex vertebrae/disc location to their parents, the other 28/36(77.8%) cohorts without scoliosis were enrolled as control group, the mutation rate (62.5%) was higher in study group than that (21.4%) in control group. Genetic influences are significant in the onset of DLS, with affected families showing similar scoliosis patterns and identical apex vertebrae. Moreover, individuals with genetic mutations tend to have more pronounced vertebral rotation and at a higher risk of developing scoliosis.