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CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a
N L L Casa1, A J Casa Junior2, A V Melo2
1Universidade Federal de Goiás, Goiânia, GO, Brasil naraligialeao01@gmail.com.
Genetics and Molecular Research : GMR
|December 22, 2016
Summary
Genetic variations in the aggrecan gene (ACAN) are linked to lumbar disc herniation (LDH). Shorter ACAN alleles were associated with a higher risk of LDH in adults, suggesting a role in disc degeneration.
Area of Science:
- Genetics
- Orthopedics
- Biochemistry
Background:
- Lumbar disc herniation (LDH) is a common condition affecting the spine.
- The aggrecan gene (ACAN) plays a crucial role in intervertebral disc structure and hydration.
- Polymorphisms in the ACAN gene may influence susceptibility to LDH.
Purpose of the Study:
- To investigate the association between ACAN gene polymorphisms and the risk of developing lumbar disc herniation (LDH).
Main Methods:
- A case-control study was conducted with 119 participants (39 cases, 80 controls) aged 20-60.
- Genotyping of the ACAN variable number tandem repeat (VNTR) was performed using conventional polymerase chain reaction (PCR).
- Statistical analyses included chi-square tests, t-tests, and odds ratios (P ≤ 0.05).
Main Results:
- A significantly lower allele score for ACAN VNTR was observed in individuals with LDH.
- The A22 allele was more prevalent in the case group (LDH).
- The A26/A26 genotype was significantly more common in the case group.
Conclusions:
- An association exists between shorter ACAN alleles and an increased risk of lumbar disc herniation (LDH).
- Shorter aggrecan repeat lengths may impair intervertebral disc hydration, increasing susceptibility to LDH.
- ACAN gene polymorphisms are potential genetic factors contributing to LDH development.
