Dataset Information

Association between vitamin D receptor genetic polymorphisms and haplotypes and risk of lumbar degenerative disc disease in a Chinese population.

ABSTRACT: Degenerative disc disease is a continuous degeneration process of intervertebral discs. We performed a case-control study to investigate the association between 16 common SNPs of VDR and degenerative disc disease risk in a Chinese population. A total of 482 pairs of patients with degenerative disc disease and controls were collected between May 2014 and May 2016. The genotyping of VDR rs1544410, rs2239181, rs2107301, rs2239179, rs2189480, rs3819545, rs2239186, rs2254210, rs2238136, rs4760648, rs11168287, rS4328262, rS4334089, rs3890733, rs10783219 and rS7299460 was done in a 384-well plate format on the sequenom MassARRAY platform (Sequenom, San Diego, USA). We observed that the TC (OR=2.13, 95% CI=1.34-3.40) and CC (OR=2.73, 95% CI=1.75-4.28) genotypes of rs2239179 were associated with an increased risk of degenerative disc disease when compared with the TT genotype. However, there was no significant correlation between other fifth SNPs of VDR and degenerative disc disease risk. The haplotype analysis revealed that the rs2239179 had linkage disequilibrium with rs2107301 (D'=0.97, r2=0.25) and rs2238136 (D'=0.81, r2=0.15). The rs2239179 polymorphism was associated with drinking habit (Spearman correlation coefficient =0.09, P=0.006) in the risk of intervertebral disc disease. In conclusion, our study indicated that the VDR genetic polymorphism may contribute to the development of degenerative disc disease in the Chinese population.

SUBMITTER: Fang Y

PROVIDER: S-EPMC6965387 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Association between vitamin D receptor genetic polymorphisms and haplotypes and risk of lumbar degenerative disc disease in a Chinese population.

Fang Yu Y Yu Bin B Yang Yong Y Liu Gang G Tu Su Yi La SY

International journal of clinical and experimental pathology 20170801 8

Degenerative disc disease is a continuous degeneration process of intervertebral discs. We performed a case-control study to investigate the association between 16 common SNPs of VDR and degenerative disc disease risk in a Chinese population. A total of 482 pairs of patients with degenerative disc disease and controls were collected between May 2014 and May 2016. The genotyping of VDR rs1544410, rs2239181, rs2107301, rs2239179, rs2189480, rs3819545, rs2239186, rs2254210, rs2238136, rs4760648, rs ...[more]

PMID: 31966727

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Project description:BackgroundLumbar disc herniation (LDH) is a complex spinal disease, with multiple genetic polymorphisms being related to its risk. Nevertheless, the role of LINC-PINT polymorphisms in LDH risk has remained unknown. Therefore, this study aimed to investigate the association between LINC-PINT polymorphisms and LDH risk.MethodsDNA was extracted from 504 LDH patients and 500 healthy controls. Three single nucleotide polymorphisms (SNPs) in LINC-PINT were selected and genotyped using Agena MassARRAY. We used logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs) under multiple genetic models to evaluate the association between LINC-PINT polymorphisms and LDH risk. Haploview 4.2 and SNPStats software were used to evaluate the linkage strength of SNPs and the correlation between haplotypes and LDH risk. The impact of SNP-SNP interactions on LDH risk was analyzed using multi-factor dimensionality reduction (MDR).ResultsResults showed that rs157916 (G vs. A: OR = 1.23, FDR-p = 0.029) and rs7801029 (G vs. C: OR = 1.39, FDR-p = 0.006; GG vs. CC: OR = 2.34, FDR-p = 0.038; recessive: OR = 2.13, FDR-p = 0.045; additive: OR = 1.39, FDR-p = 0.030) were associated with an increased risk of LDH. Furthermore, LINC-PINT rs157916 and rs780129 were found to be significantly associated with LDH risk in males. The "GGG" haplotype was associated with increased LDH risk (OR = 1.41, FDR-p = 0.006). MDR analysis indicated that the interaction between rs7801029 and rs16873842 was associated with an increased risk of LDH (OR = 1.47, p = 0.004). Additionally, there were significant differences in C-reactive protein levels among different genotypes of rs157916 and rs780129 (p < 0.05).ConclusionThis study suggests that LINC-PINT gene polymorphisms (rs157916 and rs7801029) are considered risk factors for LDH in the Chinese Han population and provide a scientific basis for early screening, prevention, and diagnosis of LDH.

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 between vitamin D receptor genetic polymorphisms and haplotypes and risk of lumbar degenerative disc disease in a Chinese population.

Publications

Association between vitamin D receptor genetic polymorphisms and haplotypes and risk of lumbar degenerative disc disease in a Chinese population.

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