Lumbar Disk Degeneration Disease and Aggrecan Gene Polymorphism in Northern Iran

Abstract

Aggrecan is the major component of intervertebral disk matrix proteoglycan with multiple functional domains. To understand the role of aggrecan polymorphism in a part of exon 12 encoding the CS1 domain in lumbar disk degeneration disease, we have analyzed genomic DNA from 71 patients with the disease and 108 healthy individuals in northern Iran. The AGC1 alleles were determined by PCR followed by gel electrophoresis. Twelve AGC1 alleles ranging from 18 to 29 repeats were detected in patients and controls. The most frequent AGC1 allele was 27, followed by 28 in patients and controls. The shorter AGC1 alleles (< or =24 repeats) were more frequent in patients than in controls (37 vs. 16%, P < 0.001). The odds ratio for lumbar disk degeneration was 3.28 (95% confidence interval 1.62-6.65) in carriers of the shorter AGC1 alleles. Our data suggest that carrying shorter AGC1 alleles with less than 24 repeats could predispose a subject to lumbar disk degeneration disease in northern Iran.

CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study

“…They found a greater prevalence of allele A27, followed by alleles A26 and A28. Eser et al (2010) and Mashayekhi et al (2010) also found similar results to those of our study. The study investigated 300 young Turkish individuals between the ages of 20 and 30, divided into a case group (with disc degeneration and/or LDH) and a control group (without disc degeneration), with 150 individuals in each group.…”

“…The most prevalent allele, both among participants with LDH and in the control group, was allele A28, followed by alleles A27 and A29 (28, 27, and 29 repeats). However, the frequency of allele A28 in the researched population was greater when compared with Korean (Kim et al, 2011), Chinese (Cong et al, 2010;Cong et al, 2014), Turkish, (Eser et al, 2010), and Iranian (Mashayekhi et al, 2010) populations. One factor that influences genetic variability is the ethnic difference among these populations.…”

“…The relationship between a predominance of short repeat alleles and disc degeneration is also cited in research by Roughley et al (2006) and Xu et al (2012), and the relationship between a predominance of short repeat alleles and LDH is cited by Mashayekhi et al (2010), Kim et al (2011), Eser et al (2010), and Cong et al (2010, 2014.…”

“…The researchers identified alleles A14 to A33, with a greater prevalence of A27, A28, and A26 in the research groups. In the study by Mashayekhi et al (2010), 71 subjects with lumbar disc degeneration and 108 controls were studied, all from Iran. The most frequent alleles were A27 and A28, and alleles ranging from 18 to 29 repeats were detected.…”

Genetic background of degenerative disc disease in the lumbar spine

“…The polymorphism in the susceptible gene might produce structural change in the intervertebral disc component, resulting in symptomatic LDDg or LDDs. 30,50,64,65,75,114) AGC is a proteoglycan, which is a critical component for cartilage and intervertebral disc structure. Proteoglycans are responsible for the high water content and play a role in the load bearing function.…”