Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population
Abstract Background Rheumatic heart disease (RHD) is an autoimmune disease triggered by acute rheumatic fever (ARF). Matrix metalloproteinases (MMPs) play an important role in the modulation of immune responses. The purpose of this study was to evaluate the association of MMP1, 3, and 12 promoter po...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-02-01
|
| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0538-4 |
| _version_ | 1818450438835404800 |
|---|---|
| author | Wei Hu Yujia Ye Yirui Yin Peng Sang Linhua Li Jing Wang Wen Wan Rui Li Xiangfeng Bai Yuehui Xie Zhaohui Meng |
| author_facet | Wei Hu Yujia Ye Yirui Yin Peng Sang Linhua Li Jing Wang Wen Wan Rui Li Xiangfeng Bai Yuehui Xie Zhaohui Meng |
| author_sort | Wei Hu |
| collection | DOAJ |
| description | Abstract Background Rheumatic heart disease (RHD) is an autoimmune disease triggered by acute rheumatic fever (ARF). Matrix metalloproteinases (MMPs) play an important role in the modulation of immune responses. The purpose of this study was to evaluate the association of MMP1, 3, and 12 promoter polymorphisms with RHD in a Han population in Southern China since the 3 genes are localized on the same chromosome and have a combined effect. Methods DNA samples were obtained from 90 adult patients with RHD and 90 control subjects. Polymorphisms in MMP1 (rs1799750), MMP3 (rs3025058), and MMP12 (rs2276109) were genotyped by direct sequencing. Differences in genotype and allele frequencies of these polymorphisms were compared between the cases and the controls using Unconditional logistic regression models and Chi-squared test. Results The 2G/2G genotype of rs1799750 in MMP1 was associated with a significantly higher risk of RHD when compared with the 1G/1G genotype (OR = 3.227; 95% CI:1.118–9.31; p = 0.03). The frequency of allele 2G was higher in patients with RHD compared to the controls (69.4% vs. 58.9%; p = 0.048) No significant differences in genotype and allele frequencies of rs3025058 in MMP3 and rs2276109 in MMP12 were found between the patients with RHD and the controls (p > 0.05). Conclusions Our results suggest that rs1799750 in MMP1 might be a risk factor for RHD in a Han population in Southern China, and individuals carrying the 2G/2G genotype are likely more susceptible to RHD. In contrast, rs3025058 in MMP3 and rs2276109 in MMP12 might not contribute to the risk of developing RHD in this population. Further studies with larger samples and other ethnic populations are required to confirm these findings. |
| first_indexed | 2024-12-14T20:51:19Z |
| format | Article |
| id | doaj.art-e36a3000dd4d42ab83270962ef551000 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-14T20:51:19Z |
| publishDate | 2018-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-e36a3000dd4d42ab83270962ef5510002022-12-21T22:47:48ZengBMCBMC Medical Genetics1471-23502018-02-011911710.1186/s12881-018-0538-4Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han populationWei Hu0Yujia Ye1Yirui Yin2Peng Sang3Linhua Li4Jing Wang5Wen Wan6Rui Li7Xiangfeng Bai8Yuehui Xie9Zhaohui Meng10Laboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityLaboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityYunnan Institute of Microbiology, Yunnan UniversityLaboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityLaboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityLaboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityLaboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityLaboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityDepartment of Cardiovascular Surgery, The First Affiliated Hospital of Kunming Medical UniversityDepartment of Mathematics and Computer Science, Basic Medical College, Kunming Medical UniversityLaboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical UniversityAbstract Background Rheumatic heart disease (RHD) is an autoimmune disease triggered by acute rheumatic fever (ARF). Matrix metalloproteinases (MMPs) play an important role in the modulation of immune responses. The purpose of this study was to evaluate the association of MMP1, 3, and 12 promoter polymorphisms with RHD in a Han population in Southern China since the 3 genes are localized on the same chromosome and have a combined effect. Methods DNA samples were obtained from 90 adult patients with RHD and 90 control subjects. Polymorphisms in MMP1 (rs1799750), MMP3 (rs3025058), and MMP12 (rs2276109) were genotyped by direct sequencing. Differences in genotype and allele frequencies of these polymorphisms were compared between the cases and the controls using Unconditional logistic regression models and Chi-squared test. Results The 2G/2G genotype of rs1799750 in MMP1 was associated with a significantly higher risk of RHD when compared with the 1G/1G genotype (OR = 3.227; 95% CI:1.118–9.31; p = 0.03). The frequency of allele 2G was higher in patients with RHD compared to the controls (69.4% vs. 58.9%; p = 0.048) No significant differences in genotype and allele frequencies of rs3025058 in MMP3 and rs2276109 in MMP12 were found between the patients with RHD and the controls (p > 0.05). Conclusions Our results suggest that rs1799750 in MMP1 might be a risk factor for RHD in a Han population in Southern China, and individuals carrying the 2G/2G genotype are likely more susceptible to RHD. In contrast, rs3025058 in MMP3 and rs2276109 in MMP12 might not contribute to the risk of developing RHD in this population. Further studies with larger samples and other ethnic populations are required to confirm these findings.http://link.springer.com/article/10.1186/s12881-018-0538-4Allele frequencyExtracellular matrixSusceptibility |
| spellingShingle | Wei Hu Yujia Ye Yirui Yin Peng Sang Linhua Li Jing Wang Wen Wan Rui Li Xiangfeng Bai Yuehui Xie Zhaohui Meng Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population BMC Medical Genetics Allele frequency Extracellular matrix Susceptibility |
| title | Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population |
| title_full | Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population |
| title_fullStr | Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population |
| title_full_unstemmed | Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population |
| title_short | Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population |
| title_sort | association of matrix metalloprotease 1 3 and 12 polymorphisms with rheumatic heart disease in a chinese han population |
| topic | Allele frequency Extracellular matrix Susceptibility |
| url | http://link.springer.com/article/10.1186/s12881-018-0538-4 |
| work_keys_str_mv | AT weihu associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT yujiaye associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT yiruiyin associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT pengsang associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT linhuali associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT jingwang associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT wenwan associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT ruili associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT xiangfengbai associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT yuehuixie associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation AT zhaohuimeng associationofmatrixmetalloprotease13and12polymorphismswithrheumaticheartdiseaseinachinesehanpopulation |