Dataset Information

Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits.

ABSTRACT:

Background

Lumbar disc disease (LDD), one of the most common conditions for which patients seek medical care, has been associated with sequence changes of the COL genes. COL1A1, however, has not been studied in young patients with LDD; COL1A1 polymorphisms have been associated with bone mineral density (BMD) in several populations and with LDD in older adults.

Objective

To study COL1A1 polymorphisms in young Greek army recruits with LDD.

Subjects

These young soldiers were diagnosed with early LDD at the time of their presentation to a military training site. All patients had radiological confirmation of their disease; a control group was also studied.

Methods

Sp1-binding site polymorphism of the COL1A1 gene was investigated by standard methods.

Results

There was an increased frequency of the "ss" genotype (33.3%) in LDD patients; none of the controls had this genotype. In addition, a significantly smaller number of controls was heterozygotes for this allele.

Conclusions

A previously studied sequence change of the regulatory region of the COL1A1 gene, the same as has previously been associated with low BMD in many populations and LDD in older adults, showed a strong association with LDD in young male soldiers who were recently diagnosed with this disease.

SUBMITTER: Tilkeridis C

PROVIDER: S-EPMC1736100 | biostudies-literature | 2005 Jul

REPOSITORIES: biostudies-literature

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Publications

Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits.

Tilkeridis C C Bei T T Garantziotis S S Stratakis C A CA

Journal of medical genetics 20050701 7

<h4>Background</h4>Lumbar disc disease (LDD), one of the most common conditions for which patients seek medical care, has been associated with sequence changes of the COL genes. COL1A1, however, has not been studied in young patients with LDD; COL1A1 polymorphisms have been associated with bone mineral density (BMD) in several populations and with LDD in older adults.<h4>Objective</h4>To study COL1A1 polymorphisms in young Greek army recruits with LDD.<h4>Subjects</h4>These young soldiers were d ...[more]

PMID: 15994869

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Project description:The association between growth differentiation factor 5 (GDF5), single nucleotide polymorphism (SNP) rs143383 and lumbar disc degeneration (LDD) was investigated. A total of 210 patients with LDD (observation group) and 320 patients without lumbar diseases (control group) diagnosed in Shanghai General Hospital of Nanjing Medical University from August 2013 to March 2017 were randomly selected. Then, deoxyribonucleic acid (DNA) was extracted from the blood of each patient, and Taq-man fluorescent quantitative polymerase chain reaction (qPCR) technique was used to detect rs143383 in GFD5 gene. The frequency of different genotypes in observation group and control group was counted, and the associations between different SNP genotypes and the incidence of LDD were analyzed. Good genotyping results were found in both LDD patient group and control group. There were no significant differences in distribution frequency of TT and TC genotypes at site rs143383 between LDD patient group and control group (P>0.05), but the distribution frequency of CC genotype at site rs143383 in LDD patient group had a statistically significant difference from that in control group (P<0.05). In dominant models, odds ratio (OR) of (TC+CC/TT) was 1.195 (P=0.532). In recessive models, OR of (CC/TT+TC) was 4.333 (P=0.028). In co-dominant models, ORs of (TC/TT) and (CC/TT) were 0.967 and 4.43, respectively (P=0.99). The differences in 3 genotypes showed no statistical significance among different pathological grades (Grade I to V) (?2=1.034, P=0.998), and there was no statistically significant difference in T and C (?2=0.012, P=0.999). Pathological grades in dominant models, recessive models and over dominant models were analyzed, and no statistically significant difference was found (P>0.05). In conclusion, CC mutant type at rs143383 in GDF5 gene has a strong association with the incidence of LDD, and a high prevalence risk, but it has no evident correlation with pathological grades.

Project description:BackgroundTo explore the independent association between lumbar endplate damage and bone mineral density (BMD) in patients with degenerative disc disease (DDD).MethodsThis retrospective investigation was based out of a prospectively collected database from the Affiliated Kunshan Hospital of Jiangsu University. Data from 192 DDD patients, collected between December 2018 and January 2022, were chosen for the final analysis. The average total endplate score (TEPS) of lumbar(L) 1-L4 was assessed by magnetic resonance imaging (MRI), and represents the extent of endplate damage. Osteoporosis severity was assessed via the L1-L4 BMD evidenced by dual-energy x-ray absorptiometry (DXA). Other analyzed information included gender, age, body mass index (BMI), and osteophyte score (OSTS). Uni- and multivariate linear regression analyses were employed to evaluate the association between average TEPS and BMD of L1-L4. Moreover, the generalized additive model (GAM) was employed for non-linear association analysis.ResultsUpon gender, age, BMI, and OSTS adjustments, a strong independent inverse relationship was observed between average TEPS and BMD (β, -0.021; 95% CI, -0.035 to -0.007, P-value = 0.00449). In addition, the gender stratification analysis revealed a linear relationship in males, and a non-linear relationship in females. Specifically, there was a significantly stronger negative relationship between average TEPS and BMD in females, when the average TEPS was < 3.75 (β, -0.063; 95% CI, -0.114 to -0.013; P-value = 0.0157). However, at an average TEPS > 3.75, the relationship did not reach significance (β, 0.007; 95% CI, -0.012 to 0.027; P-value = 0.4592).ConclusionsThis study demonstrated the independent negative association between average TEPS and BMD values of L1-L4. Upon gender stratification, a linear relationship was observed in males, and a non-linear association in females. The findings reveal that patients with osteoporosis or endplate damage require more detailed examinations and treatment regimen.

Dataset Information

Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits.

Background

Objective

Subjects

Methods

Results

Conclusions

Publications

Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits.

Similar Datasets

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