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Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population
Insights
Genetic variations in ADAMTS-4 are linked to lumbar disc degeneration (LDD). A specific SNP, rs4233367, in the ADAMTS-4 gene may reduce LDD risk in the Chinese Han population.
Area of Science:
- Genetics
- Orthopedics
- Biochemistry
Background:
- Low back pain (LBP) is a prevalent condition often stemming from lumbar disc degeneration (LDD).
- ADAMTS-4 (a disintegrin and metalloprotease with thrombospondin motifs-4), also known as aggrecanse-1, is crucial in the extracellular matrix degradation observed in LDD.
Purpose of the Study:
- To investigate the association between genetic polymorphisms in and around the ADAMTS-4 gene and LDD.
- To identify specific single nucleotide polymorphisms (SNPs) that may influence LDD susceptibility.
Main Methods:
- Genotyping of five SNPs in and around the ADAMTS-4 gene using the Sequenom MassARRAY system.
- Recruitment of 482 sporadic LDD cases and 496 healthy controls from the Chinese Han population.
- Performing allelic, genotypic, and haplotypic association analyses.
Main Results:
- The SNP rs4233367 (c.1877 C>T), located in the exon of ADAMTS-4, showed a significant association with LDD.
- Carriers of the T allele had a reduced risk of LDD (OR = 0.69), with the TT genotype presenting approximately one-fifth the risk of the CC genotype.
- No significant differences were observed for other tested SNPs between LDD cases and controls.
Conclusions:
- The SNP rs4233367 within the ADAMTS-4 gene exon is potentially associated with lumbar disc degeneration.
- This finding suggests a genetic component to LDD and highlights ADAMTS-4 as a gene of interest for further research into the condition.
Abstract:
Low back pain (LBP) is a common health problem and many LBP are caused by lumbar disc degeneration (LDD). ADAMTS-4 (a disintegrin and metalloprotease with thrombospondin motifs-4), also known as aggrecanse-1, plays a core role in degeneration of extracellular matrix in LDD. To investigate the association between ADAMTS-4 genetic polymorphism and LDD, we genotyped SNPs in and around ADAMTS-4. We recruited 482 sporadic cases of LDD and 496 healthy controls from Chinese Han population. Five SNPs were selected and phenotyped by the Sequenom MassARRAY system. Allelic, genotypic, and haplotypic association was performed. Rs4233367 (c.1877 C>T), which located in exon of ADAMTS-4 showed significant association with LDD. The T allele conferred a lower risk of LDD with an OR of 0.69 and TT genotype is at nearly one-fifth of the risk compared to CC genotype. Other tested SNPs didn't show significant difference between the case and control groups. The SNP rs4233367 in the exon of ADAMTS-4 gene may be associated with lumbar disc degeneration. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 34:860-864, 2016.
