科研之友
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摘要
Cytokine interleukin-4 (IL-4) is thought to play a role in the pathogenesis of Alzheimer's disease (AD). This study aimed to evaluate the potential association between single nucleotide polymorphisms (SNP) of IL-4 gene and AD susceptibility. This case-control study was conducted in Chinese Han populations consisting of 203 AD patients and 205 controls. Three common SNPs of IL-4 gene, including -590C > T (rs2243250), 33C > T (rs2070874), and 1098T > G (rs2243248), were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and verified using DNA sequencing methods. Our data show that -590C and -1098G alleles of IL-4 were more common in AD patients (30.5% vs 22.2% p = 0.007; 14.3% vs 3.4% p < 0.0001) and significantly associated with elevated risk for AD (OR = 1.51 95% CI 1.05-2.23; OR = 4.78 95% CI 2.37-7.67). Haplotype analysis revealed five common haplotypes CCG (OR = 4.41), CCT (OR = 1.22), TTT (OR = 1.02), CTT (OR= 0.7), and TCT (OR= 0.14), from highest to lowest risk for AD. None of the associations appeared to be modified by APOE epsilon 4 genetic variant. Bioinformatic analysis shows that -590C > T and -10981 > G have a linkage disequilibrium (LD) with multiple potentially functional SNPs inside IL-4 gene. Our findings indicate that the -590C and -1098G alleles located in the promoter of IL-4 may increase the susceptibility to AD among the Han Chinese and might be used as molecular markers for AD risk evaluation.
- 出版日期2014-3-20
- 单位南京医科大学
