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Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population.
- Source :
-
BMC medical genomics [BMC Med Genomics] 2024 Jan 02; Vol. 17 (1), pp. 11. Date of Electronic Publication: 2024 Jan 02. - Publication Year :
- 2024
-
Abstract
- Background: It has been reported that Mannose-binding lectin 2 (MBL2) gene polymorphisms and expression levels are related to dilated cardiomyopathy (DCM). This study aimed to investigate the potential association between MBL2 gene polymorphisms and the pathogenesis of DCM.<br />Methods: Five single nucleotide polymorphisms (SNPs) of the MBL2 gene were genotyped in 440 DCM patients and 532 controls in Southwest China. A luciferase reporter assay was used to detect the transcriptional activity the different genotypes. MBL serum levels, left ventricle ejection fraction (LVEF) and lower left ventricular end-diastolic diameter (LVEDD) were measured.<br />Results: The rs11003125 C allele increased the transcriptional activity of the MBL2 promoter compared with the rs11003125 G allele. The rs11003125 CC carriers had higher MBL serum levels, LVEF and LVEDD than the rs11003125 CG and GG carriers.<br />Conclusions: Our study first revealed that MBL2 polymorphisms and serum MBL levels were associated with DCM. Allele C in rs11003125 of MBL2 may upregulate the expression levels of MBL. High serum MBL levels may be a protective factor in DCM pathogenesis.<br /> (© 2023. The Author(s).)
Details
- Language :
- English
- ISSN :
- 1755-8794
- Volume :
- 17
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- BMC medical genomics
- Publication Type :
- Academic Journal
- Accession number :
- 38167099
- Full Text :
- https://doi.org/10.1186/s12920-023-01787-2