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Published on: May 25, 2017
Association between TRAIL gene polymorphisms and the susceptibility and severity of lumbar disc degeneration
Heng Du1, Bin Bai1, Yusheng Qiu1
1Department of Orthopedics, The First Affiliated Hospital of Xi'an Jiaotong University Xi'an 710061, Shaanxi, China.
Insights
Tumor necrosis factor related apoptosis-inducing ligand (TRAIL) gene polymorphisms at positions 1525 and 1595 are linked to lumbar disc degeneration (LDD) susceptibility and severity in the Chinese Han population. These TRAIL gene variations may influence LDD development and progression.
Area of Science:
- Genetics
- Orthopedics
- Molecular Biology
Background:
- Lumbar disc degeneration (LDD) is a prevalent condition with complex etiologies.
- Genetic factors, including single-nucleotide polymorphisms (SNPs), are increasingly recognized as contributors to LDD.
- The tumor necrosis factor related apoptosis-inducing ligand (TRAIL) gene plays a role in apoptosis and inflammation, pathways relevant to LDD pathogenesis.
Purpose of the Study:
- To investigate the association between specific TRAIL gene polymorphisms and the susceptibility to LDD.
- To explore the relationship between these TRAIL gene variants and the severity of LDD in the Chinese Han population.
Main Methods:
- Genotyping of four TRAIL gene single-nucleotide polymorphisms (SNPs) in the 3' untranslated region (3'UTR): 1289 C/A, 1525 G/A, 1588 G/A, and 1595 C/T.
- Utilized polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis for SNP genotyping.
- Compared genotype and allele frequencies between 153 LDD patients and 131 healthy controls.
Main Results:
- No significant differences in genotype or allele frequencies for TRAIL 1289 C/A and 1588 G/A between patients and controls.
- Significant association found between TRAIL 1525 G/A and 1595 C/T polymorphisms and LDD susceptibility.
- Higher frequencies of TRAIL 1525 GG/1595 CC genotypes and 1525 G/1595 C alleles in LDD patients.
- TRAIL 1525 AA/1595 TT genotypes and 1525 A/1595 T alleles were associated with a lower frequency of high-grade disc degeneration.
Conclusions:
- TRAIL gene polymorphisms at positions 1525 and 1595 are significantly associated with LDD susceptibility in the Chinese Han population.
- These specific TRAIL polymorphisms are also linked to the severity of lumbar disc degeneration, influencing the grade of degeneration.
Aim:
The aim of the present study was to investigate the association between tumor necrosis factor related apoptosis-inducing ligand (TRAIL) gene polymorphisms and the susceptibility and severity of lumbar disc degeneration (LDD) in the Chinese Han population.
Methods:
A total of 153 patients with LDD and 131 healthy subjects were enrolled in the study. Four single-nucleotide polymorphisms (SNPs) in the 3' untranslated region (3'UTR) of TRAIL gene, including 1289 C/A, 1525 G/A, 1588 G/A and 1595 C/T, were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
Results:
The genotypes and alleles frequencies of TRAIL at 1525 and 1595 positions in all subjects were the same. There was a significant association between TRAIL 1525/1595 polymorphisms and the susceptibility of LDD. The frequencies of 1525 GG /1595 CC genotype, and 1525 G/1595 C allele were higher in the patients group than that in the control group. In addition, we found patients with the 1525 AA /1595 TT genotype, as well as 1525 A/1595 T allele exhibit significantly low frequency of high grades of disc degeneration. However, there were no significant differences in the genotype or allele distribution of TRAIL 1289 C/A or 1588 G/A between the patients and the control group.
Conclusion:
TRAIL 1525/1595 polymorphisms were associated with the susceptibility and severity of LDD in the Chinese Han population.
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