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Genetic polymorphisms of IL1RN were associated with lumbar disk herniation risk in a Chinese Han population.

ABSTRACT: BACKGROUND:Interleukin (IL)-1 is a cytokine superfamily, which involved in the inflammatory process and immune response in human body. IL-1 receptor antagonist (IL1RN) has been found to be associated with risk of lumbar disk herniation (LDH) in Finland samples. However, to date, there was no investigation focus on the polymorphisms of IL1RN in Chinese Han LDH patient. MATERIALS AND METHODS:We conducted a case-control study based on 498 LDH patients and 463 controls. Five single-nucleotide polymorphisms (SNPs) in IL1RN were genotyped. RESULTS:As a result, we found that the AG and GG genotypes of rs3181052 were associated with decreased risk LDH under the dominant model (OR = 0.74, 95%CI: 0.57-0.96, p = .025). In the stratification analysis, the frequency of the "A" allele of rs17042888 was significantly lower in elder LDH cases than in controls (OR = 0.723, 95%CI: 0.544-0.961, p = .025). In addition, the AG and AA genotypes of rs17042888 were associated with decreased risk of LDH in elder group under the dominant model (OR = 0.69, 95%CI: 0.49-0.98, p = .038). The GG genotype of rs315919 was identified have correlation with decreased risk of LDH in elder group under the recessive model (OR = 0.60, 95%CI: 0.37-0.97, p = .034). CONCLUSIONS:Our data showed that IL1RN may be a susceptibility gene for risk of LDH in Chinese Han population.

SUBMITTER: Tai A

PROVIDER: S-EPMC7284030 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Genetic polymorphisms of IL1RN were associated with lumbar disk herniation risk in a Chinese Han population.

Tai Ariga A Zhu Ming M Qilimuge Han H Rong Hao H He Xue X Bai Mei M Jin Tianbo T

Molecular genetics & genomic medicine 20200421 6

<h4>Background</h4>Interleukin (IL)-1 is a cytokine superfamily, which involved in the inflammatory process and immune response in human body. IL-1 receptor antagonist (IL1RN) has been found to be associated with risk of lumbar disk herniation (LDH) in Finland samples. However, to date, there was no investigation focus on the polymorphisms of IL1RN in Chinese Han LDH patient.<h4>Materials and methods</h4>We conducted a case-control study based on 498 LDH patients and 463 controls. Five single-nu ...[more]

PMID: 32319224

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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.

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Genetic polymorphisms of IL1RN were associated with lumbar disk herniation risk in a Chinese Han population.

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Genetic polymorphisms of IL1RN were associated with lumbar disk herniation risk in a Chinese Han population.

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