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Updated: Feb 21, 2026
Three-dimensional Confocal Analysis of Microglia/macrophage Markers of Polarization in Experimental Brain Injury
Published on: September 4, 2013
Malectin gene polymorphisms promote cerebral palsy via M2-like macrophage polarization
Abstract:
The relationship between gene polymorphisms and the pathogenesis of cerebral palsy (CP) is uncovering recently. Here, we suggested that single nucleotide polymorphisms (SNPs) of MLEC gene might take part in the pathogenesis of CP. We genotyped and analyzed 6 SNP positions of MLEC gene in 916 CP patients and 957 healthy people, which are from the Chinese Han population. The results indicated significant associations between the risk of CP and rs10431386 [allele: P-value = .006, odds ratio (OR) = 1.587, 95% confidence interval (CI) = 1.198-1.967] and rs7964786 [allele: P-value = .005, OR = 1.956, 95% CI = 1.238-2.519] SNP positions of MLEC gene. Further investigations revealed that C alleles of rs10431386 and rs7964786 inhibit the expression of MLEC in blood of CP patients and macrophage cell line. in vitro experiments revealed that MLEC promotes M1 to M2 macrophage polarization. The results of in vitro studies suggest that C alleles of rs10431386 and rs7964786 on MLEC promotes CP by inhibiting M1 to M2 macrophage polarization. Generally, this work suggested the contribution of MLEC gene polymorphisms to the pathogenesis of CP.
Insights
Single nucleotide polymorphisms (SNPs) in the MLEC gene are linked to cerebral palsy (CP) risk in the Chinese Han population. Specific MLEC gene variants may influence CP development by affecting macrophage polarization.
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Cerebral palsy (CP) pathogenesis is increasingly linked to genetic factors.
- The role of specific gene polymorphisms in CP is an emerging area of research.
Purpose of the Study:
- To investigate the association between MLEC gene single nucleotide polymorphisms (SNPs) and the risk of cerebral palsy (CP).
- To explore the functional impact of identified MLEC gene polymorphisms on MLEC expression and macrophage polarization.
Main Methods:
- Genotyping of 6 MLEC gene SNP positions in 916 CP patients and 957 healthy controls from the Chinese Han population.
- Analysis of SNP associations with CP risk using statistical methods (P-value, Odds Ratio, Confidence Interval).
- In vitro experiments assessing MLEC expression and its effect on macrophage polarization (M1 to M2).
Main Results:
- Significant associations were found between CP risk and MLEC gene SNPs rs10431386 (P=.006, OR=1.587) and rs7964786 (P=.005, OR=1.956).
- The C alleles of rs10431386 and rs7964786 were found to inhibit MLEC gene expression in CP patients' blood and a macrophage cell line.
- In vitro studies demonstrated that MLEC promotes M1 to M2 macrophage polarization.
Conclusions:
- MLEC gene polymorphisms, specifically rs10431386 and rs7964786, are associated with an increased risk of cerebral palsy.
- The identified MLEC gene variants may contribute to CP pathogenesis by impairing M1 to M2 macrophage polarization, potentially through reduced MLEC expression.
