Genetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese population
Abstract Background A recent genome-wide association study identified a susceptible locus in MIR4300HG gene that was associated with curve progression of adolescent idiopathic scoliosis (AIS) in the Japanese population. However, the association between the gene and curve progression in other populat...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-05-01
|
| Series: | Journal of Orthopaedic Surgery and Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13018-021-02455-w |
| _version_ | 1818473737205317632 |
|---|---|
| author | Yuwen Wang Zhicheng Dai Zhichong Wu Zhenhua Feng Zhen Liu Xu Sun Leilei Xu Yong Qiu Zezhang Zhu |
| author_facet | Yuwen Wang Zhicheng Dai Zhichong Wu Zhenhua Feng Zhen Liu Xu Sun Leilei Xu Yong Qiu Zezhang Zhu |
| author_sort | Yuwen Wang |
| collection | DOAJ |
| description | Abstract Background A recent genome-wide association study identified a susceptible locus in MIR4300HG gene that was associated with curve progression of adolescent idiopathic scoliosis (AIS) in the Japanese population. However, the association between the gene and curve progression in other populations remains unclear. Methods A cohort of 1952 AIS patients and 2495 healthy controls were included in the case-control analysis. In the case-only analysis, 747 patients were assigned to the progression group and 520 patients were assigned to the non-progression group, respectively. Rs35333564 was genotyped for all the subjects. Paraspinal muscles of 76 patients were collected for the analysis of gene expression. Chi-square test and ANOVA test were used for the intergroup comparison. Pearson correlation analysis was performed to investigate the relationship between the gene expression and curve magnitude. Results Variant rs35333564 was significantly associated with the curve severity of AIS (p = 0.025), but not the development of AIS (p = 0.418). Genotype GG was indicated by remarkably lower expression of MIR4300 (p = 0.020) which was significantly correlated with curve magnitude (p = 0.010). As a predicted target gene of MIR4300, the expression of CRTC1 was negatively correlated with MIR4300 expression (p = 0.012, r = −0.287) and positively correlated with curve severity (p = 0.025, r = 0.257). Conclusions The association between rs35333564 and curve progression was successfully replicated in a Chinese AIS population. CRTC1 may be the target gene of MIR4300 that plays a role in the curve progression of AIS. |
| first_indexed | 2024-04-14T04:26:13Z |
| format | Article |
| id | doaj.art-5b0c401220354830927cf1a7f3f37624 |
| institution | Directory Open Access Journal |
| issn | 1749-799X |
| language | English |
| last_indexed | 2024-04-14T04:26:13Z |
| publishDate | 2021-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Orthopaedic Surgery and Research |
| spelling | doaj.art-5b0c401220354830927cf1a7f3f376242022-12-22T02:12:16ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2021-05-011611610.1186/s13018-021-02455-wGenetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese populationYuwen Wang0Zhicheng Dai1Zhichong Wu2Zhenhua Feng3Zhen Liu4Xu Sun5Leilei Xu6Yong Qiu7Zezhang Zhu8Department of Spine Surgery, Drum Tower Hospital Clinical College of Nanjing Medical UniversityDepartment of Spine Surgery, Drum Tower Hospital Clinical College of Nanjing Medical UniversityDepartment of Spine Surgery, Drum Tower Hospital of Nanjing University Medical SchoolDepartment of Spine Surgery, Drum Tower Hospital of Nanjing University Medical SchoolDepartment of Spine Surgery, Drum Tower Hospital of Nanjing University Medical SchoolDepartment of Spine Surgery, Drum Tower Hospital of Nanjing University Medical SchoolDepartment of Spine Surgery, Drum Tower Hospital of Nanjing University Medical SchoolDepartment of Spine Surgery, Drum Tower Hospital Clinical College of Nanjing Medical UniversityDepartment of Spine Surgery, Drum Tower Hospital Clinical College of Nanjing Medical UniversityAbstract Background A recent genome-wide association study identified a susceptible locus in MIR4300HG gene that was associated with curve progression of adolescent idiopathic scoliosis (AIS) in the Japanese population. However, the association between the gene and curve progression in other populations remains unclear. Methods A cohort of 1952 AIS patients and 2495 healthy controls were included in the case-control analysis. In the case-only analysis, 747 patients were assigned to the progression group and 520 patients were assigned to the non-progression group, respectively. Rs35333564 was genotyped for all the subjects. Paraspinal muscles of 76 patients were collected for the analysis of gene expression. Chi-square test and ANOVA test were used for the intergroup comparison. Pearson correlation analysis was performed to investigate the relationship between the gene expression and curve magnitude. Results Variant rs35333564 was significantly associated with the curve severity of AIS (p = 0.025), but not the development of AIS (p = 0.418). Genotype GG was indicated by remarkably lower expression of MIR4300 (p = 0.020) which was significantly correlated with curve magnitude (p = 0.010). As a predicted target gene of MIR4300, the expression of CRTC1 was negatively correlated with MIR4300 expression (p = 0.012, r = −0.287) and positively correlated with curve severity (p = 0.025, r = 0.257). Conclusions The association between rs35333564 and curve progression was successfully replicated in a Chinese AIS population. CRTC1 may be the target gene of MIR4300 that plays a role in the curve progression of AIS.https://doi.org/10.1186/s13018-021-02455-wAdolescent idiopathic scoliosisMIR4300HGCurve progressionGenetic variant |
| spellingShingle | Yuwen Wang Zhicheng Dai Zhichong Wu Zhenhua Feng Zhen Liu Xu Sun Leilei Xu Yong Qiu Zezhang Zhu Genetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese population Journal of Orthopaedic Surgery and Research Adolescent idiopathic scoliosis MIR4300HG Curve progression Genetic variant |
| title | Genetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese population |
| title_full | Genetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese population |
| title_fullStr | Genetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese population |
| title_full_unstemmed | Genetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese population |
| title_short | Genetic variant of MIR4300HG is associated with progression of adolescent idiopathic scoliosis in a Chinese population |
| title_sort | genetic variant of mir4300hg is associated with progression of adolescent idiopathic scoliosis in a chinese population |
| topic | Adolescent idiopathic scoliosis MIR4300HG Curve progression Genetic variant |
| url | https://doi.org/10.1186/s13018-021-02455-w |
| work_keys_str_mv | AT yuwenwang geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT zhichengdai geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT zhichongwu geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT zhenhuafeng geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT zhenliu geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT xusun geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT leileixu geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT yongqiu geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation AT zezhangzhu geneticvariantofmir4300hgisassociatedwithprogressionofadolescentidiopathicscoliosisinachinesepopulation |