Analysis of associations of genetic markers with the development of congenital scoliosis

• Published in: Khirurgii︠a︡ pozvonochnika = Spine surgery Vol. 19; no. 2; pp. 33 - 39
• Main Authors: Klyuchnikov, D. Yu, Filatov, E. Yu, Tyumin, I. V., Tyumina, O. V.
• Format: Journal Article
• Language: English
• Published: Ministry of Health of Russian Federation, Federal State Budgetary Institution "Novosibirsk Research Institute of Traumatology and Orthopaedics n.a. Ya.L. Tsivyan" 23.06.2022
• Subjects: association of genetic markers; congenital scoliosis; single-nucleotide polymorphisms; snps
• ISSN: 1810-8997; 2313-1497
• DOI: 10.14531/ss2022.2.33-39

Objective. To  study the associations of single-nucleotide polymorphisms: rs6570507 in GPR126 gene, rs1800795 in IL-6 gene, rs1800469 in TGFB1 gene, rs731236 in VDR gene, rs625039 and rs11598564 polymorphisms in LBX1 gene, and rs12946942 in SOX9 gene with congenital scoliosis. Material and Methods. The study included 90 patients with verified congenital anomalies of the spine (single and multiple malformations of the spine, ICD-10 Code: Q76.3) and 157 clinically healthy volunteers without diagnosed spinal deformity and without family history of spinal malformations or osteoarticular system diseases. Molecular genetic testing was performed by PCR with real-time registration of a signal from the developed oligonucleotides used to determine rs6570507, rs1800795, rs1800469, rs625039, rs11598564, rs12946942, and rs731236 polymorphisms. Reference sequences were selected from the dbSNP database, and sequence design was performed on the BLAST platform. Data analysis was performed using the R free software computing environment. Data were compared using Pearson’s c 2 test, and 95 % confidence interval limits were calculated to assess the significance of OR. Results. Statistically significant association of the G allele and GG genotype of the rs1800795 polymorphism in the interleukin-6 gene with congenital scoliosis was found in group of Russian patients (p < 0.001). No significant association of alleles and genotypes of polymorphic variants of rs6570507, rs1800469, rs625039, rs11598564, rs12946942, and rs731236 with congenital scoliosis was found. Conclusion. The rs1800795 polymorphism can be considered as a promising marker for molecular genetic diagnostics of congenital scoliosis.