Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients

Abstract

ABSTRACT. Ossification of the posterior longitudinal ligaments (OPLL) has been considered to be associated with abnormalities of bone metabolism, and transforming growth factor-β1 (TGF-β1) has been demonstrated to affect the bone remodeling process. We investigated two SNPs of the TGF-β1 promoter (-509C>T; rs1800469) and exon 1 (869T>C; rs1982073) in 298 Koreans (98 patients with OPLL and 200 control subjects). The promoter SNP -509C>T was determined by PCR and RFLP, and the TaqMan probe assay was used to determine 869T>C polymorphism genotypes. The subjects were divided into OPLL continuous group (continuous type plus mixed type) and OPLL segmental group (segmental and localized type). We also separately analyzed this association according to gender difference. There was no significant difference in genotype distributions of -509C>T and 869T>C polymorphisms of the TGF-β1 gene between OPLL patients and controls. A combined analysis of TGF-β1 -509C>T and 869T>C polymorphisms showed no significant association with OPLL, and a subgroup analysis did not show any significant correlation between the SNP -509C>T or SNP 869T>C and OPLL subgroups. Stratification by gender demonstrated no significant effect. We conclude that promoter region (-509C>T) and exon 1 (869T>C) polymorphisms are not associated with OPLL in the Korean population.

Sex differences in TGFB-β signaling with respect to age of onset and cognitive functioning in schizophrenia

“…Studies, which have attempted to establish the relationship between the TGFB1 gene polymorphisms and TGF-β level, have yielded ambiguous results 36,37. In the present study, we found that the TGFB1 +869T/C and +915G/C polymorphisms are not associated with TGF-β level in schizophrenia patients.…”

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

“…On meta-analysis, there was no significant effect of the 869T>C polymorphism on the susceptibility to OPLL development (OR 1.50, 95% CI 0.97-2.32, p = 0.07; Figure 2). The 509C>T was found to have no association with radiological OPLL development [46].…”

“…The best example of this is perhaps seen in the RUNX2 gene; the rs1406846 SNP A allele is associated with 5.67 times greater likelihood of developing DCM in one study [44], but it has no significant effect in a further study using a similar number of participants from the same country [20]. Similarly the 869T>C SNP in the TGFB1 gene was associated with an odds ratio of 4.50 in one study [45], but a larger, more recent study found no significant effect of the same allele [46], with the result of meta-analysis showing no significant effect. Further examples of conflicting evidence include the IVS20-11delT polymorphism of the NPPS gene, in which one study found a significant effect on DCM susceptibility [39], but two others found no significant effect [38,41], while in the IVS15-14T>C polymorphism, two studies found an effect on susceptibility [40,41], with a further study showing no significant effect [33].…”

“…In the TGFB1 (TGFβ1) gene, the CC genotype of the 869T>C polymorphism was found to be associated with an increased risk of radiological OPLL development in one study (OR 4.5, p = 0.0004) [45], but it had no such association in a recent study that involved almost double the number of cases (p = 0.656) [46]. On meta-analysis, there was no significant effect of the 869T>C polymorphism on the susceptibility to OPLL development (OR 1.50, 95% CI 0.97-2.32, p = 0.07; Figure 2).…”

“…On meta-analysis, there was no significant effect of the 869T>C polymorphism on the susceptibility to OPLL development (OR 1.50, 95% CI 0.97-2.32, p = 0.07; Figure 2). The 509C>T was found to have no association with radiological OPLL development [46]. Jekarl et al (2013) investigated three SNPs of the TGFBR2 (TGFβR2) gene, finding that two were associated with increased likelihood of OPLL development.…”