Association of interleukin-4 genetic polymorphisms with sporadic Alzheimer's disease in Chinese Han population

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• 作者：Wei Li^a ; Xiaohua Qian^b ; Hong Teng^a ; Ying Ding^c ; Li Zhang^a ; ^{zhangli_nbh@163.com" class="auth_mail}
• 关键词：IL-4 ; Single nucleotide polymorphisms ; Alzheimer's disease ; Han Chinese ; Linkage disequilibrium
• 刊名：Neuroscience Letters
• 出版年：20 March, 2014
• 年：2014
• 卷：563
• 期：Complete
• 页码：17-21
• 全文大小：551 K

文摘

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 鈭?90C > T (rs2243250), 鈭?3C > T (rs2070874), and 鈭?098T > 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 鈭?90C and 鈭?098G 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 蓻4 genetic variant. Bioinformatic analysis shows that 鈭?90C > T and 鈭?098T > G have a linkage disequilibrium (LD) with multiple potentially functional SNPs inside IL-4 gene. Our findings indicate that the 鈭?90C and 鈭?098G 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.