ArticleBMC medical genomics2024
Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population.
Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Association Between Polymorphisms rs11003125 and rs7096206 of theHealth science reports · 2026Article
- Impact of Sociodemographic, Clinical, and Genetic Factors andIranian journal of medical sciences · 2025Article
- A Proposed Genetic Risk Score for Dilated Cardiomyopathy Susceptibility in the Chinese Han Population.Texas Heart Institute journalArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundIt 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.
methodsFive 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.
resultsThe 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.
conclusionsOur 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.
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