Key result
The MBL2 rs11003125 CC genotype was associated with a significantly reduced risk of dilated cardiomyopathy compared to the GG genotype (OR 0.58).
Why the study?
MBL2 gene polymorphisms and expression levels have been linked to dilated cardiomyopathy, but their specific association with the pathogenesis of DCM required further investigation.
Case-Control (n=972)
No
Odds Ratio: 0.58 (95% CI 0.4–0.84)
p-value: p=0.007
The MBL2 rs11003125 CC genotype and C allele are associated with a reduced risk of dilated cardiomyopathy and higher serum MBL levels in a Chinese Han population.
MBL2 rs11003125 C allele may protect against DCM; hypothesis-generating in Chinese Han, needs replication before any clinical role.
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. 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. 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. 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.
No takes yet. Share an insight, caveat, or question.
Mao et al. (2024) conducted a case-control in Dilated cardiomyopathy (n=972). MBL2 rs11003125 CC genotype vs. MBL2 rs11003125 GG genotype was evaluated on Risk of dilated cardiomyopathy (OR 0.58, 95% CI 0.40-0.84, p=0.007). The MBL2 rs11003125 CC genotype was associated with a significantly reduced risk of dilated cardiomyopathy compared to the GG genotype (OR 0.58).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: