Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study
Abstract Background Lumbar 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-PIN...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-08-01
|
| Series: | Journal of Orthopaedic Surgery and Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13018-023-04052-5 |
| _version_ | 1797452042422190080 |
|---|---|
| author | Yimin Wu Ming Bai Yingnan Yu Yupeng Wang Yuan Zhang |
| author_facet | Yimin Wu Ming Bai Yingnan Yu Yupeng Wang Yuan Zhang |
| author_sort | Yimin Wu |
| collection | DOAJ |
| description | Abstract Background Lumbar 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. Methods DNA 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). Results Results 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). Conclusion This 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. |
| first_indexed | 2024-03-09T15:03:02Z |
| format | Article |
| id | doaj.art-7782e6a2ec9841c1b0728902d81e9964 |
| institution | Directory Open Access Journal |
| issn | 1749-799X |
| language | English |
| last_indexed | 2024-03-09T15:03:02Z |
| publishDate | 2023-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Orthopaedic Surgery and Research |
| spelling | doaj.art-7782e6a2ec9841c1b0728902d81e99642023-11-26T13:49:24ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2023-08-0118111010.1186/s13018-023-04052-5Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control studyYimin Wu0Ming Bai1Yingnan Yu2Yupeng Wang3Yuan Zhang4Development of spinal surgery, the Second Affiliated Hospital of Inner Mongolia Medical UniversityDevelopment of spinal surgery, the Second Affiliated Hospital of Inner Mongolia Medical UniversityDevelopment of spinal surgery, the Second Affiliated Hospital of Inner Mongolia Medical UniversityDevelopment of spinal surgery, the Second Affiliated Hospital of Inner Mongolia Medical UniversitySchool of Health Management, Inner Mongolia Medical UniversityAbstract Background Lumbar 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. Methods DNA 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). Results Results 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). Conclusion This 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.https://doi.org/10.1186/s13018-023-04052-5Lumbar disc herniationRiskLINC-PINTSNPsCase–control study |
| spellingShingle | Yimin Wu Ming Bai Yingnan Yu Yupeng Wang Yuan Zhang Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study Journal of Orthopaedic Surgery and Research Lumbar disc herniation Risk LINC-PINT SNPs Case–control study |
| title | Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study |
| title_full | Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study |
| title_fullStr | Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study |
| title_full_unstemmed | Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study |
| title_short | Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study |
| title_sort | association of linc pint polymorphisms with lumbar disc herniation risk among chinese han population a case control study |
| topic | Lumbar disc herniation Risk LINC-PINT SNPs Case–control study |
| url | https://doi.org/10.1186/s13018-023-04052-5 |
| work_keys_str_mv | AT yiminwu associationoflincpintpolymorphismswithlumbardischerniationriskamongchinesehanpopulationacasecontrolstudy AT mingbai associationoflincpintpolymorphismswithlumbardischerniationriskamongchinesehanpopulationacasecontrolstudy AT yingnanyu associationoflincpintpolymorphismswithlumbardischerniationriskamongchinesehanpopulationacasecontrolstudy AT yupengwang associationoflincpintpolymorphismswithlumbardischerniationriskamongchinesehanpopulationacasecontrolstudy AT yuanzhang associationoflincpintpolymorphismswithlumbardischerniationriskamongchinesehanpopulationacasecontrolstudy |