Genetic polymorphism of KIAA1217 is functionally associated with lumbar disc herniation in the Chinese population - 15/02/24
Highlights |
• | LDH patients were found to have significantly higher frequency of genotype GG of rs16924573 than the normal controls (64.2% vs. 52.8%, p<0.001). |
• | The meta-analysis of genotyping data of rs16924573 in the Chinese population, the Japanese population and the Finnish population showed that allele G can add to the risk of LDH with an odds ratio of 1.37. |
• | 3．Patients were observed to have significantly decreased expression of KIAA1217 as compared with patients with lumbar spondylolisthesis. |
• | 4．The mRNA expression of KIAA1217 was significantly lower in patients with severe disc degeneration (Schneiderman’s grade 3/4) than in those with mild disc degeneration (Schneiderman’s grade 1/2). |
• | 5. The rs16924573 of KIAA1217 may be functionally associated with LDH in the Chinese population. |
Abstract |
Background |
Genetic polymorphism of KIAA1217 has been reported to be associated with lumbar disc herniation (LDH) in different populations such as Japanese population and Finnish population. This study aimed to explore whether the genetic polymorphism of KIAA1217 is functionally associated with LDH in Chinese population.
Methods |
SNP rs16924573 of KIAA1217 was genotyped in 1272 patients and 1248 healthy controls. The mRNA expression of KIAA1217 in the intervertebral disc was analyzed for 84 patients and 32 controls. The differences of genotype and allele distributions between LDH patients and healthy controls were evaluated using the Chi-square test. One-way ANOVA test was used to compare the relationship between genotypes and tissue expression of KIAA1217.
Results |
Patients were found to have significantly higher frequency of genotype GG of rs16924573 than the controls (64.2% vs. 52.8%, p<0.001). The frequency of allele G was remarkably higher in the patients than in the controls (79.8% vs. 73.2%, p<0.001), with an OR of 1.45 (95% confidential interval=1.27–1.66). Compared with the controls, LDH patients were observed to have significantly decreased expression of KIAA1217. Patients with genotype GG had remarkably lower mRNA expression of KIAA1217 than those with genotype AG or AA (p=0.01).
Conclusions |
SNP rs16924573 of KIAA1217 could be functionally associated with LDH in the Chinese population. More in vivo and vitro experiments need to be carried out to further clarify the regulatory mechanism of functional variants in KIAA1217.
Le texte complet de cet article est disponible en PDF.Keywords : Lumbar disc herniation, KIAA1217, Polymorphism, Etiology
Abbreviations : LDH, LBP, MRI, GAPDH, HWE, OR, CI
Plan
Vol 70 - N° 2
Article 101538- mars 2024 Retour au numéro
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