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Neurosci Lett. 2014 Mar 20;563:17-21. doi: 10.1016/j.neulet.2014.01.019. Epub 2014 Jan 24.

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

Author information

1
Department of Geriatric Neurology, Nanjing Medical University Affiliated to Nanjing Brain Hospital, Nanjing, Jiangsu 210029, People's Republic of China.
2
Clinical Laboratory, Nanjing Medical University Affiliated to Nanjing Brain Hospital, Nanjing, Jiangsu 210029, People's Republic of China.
3
Department of Science and Education, Nanjing Medical University Affiliated to Nanjing Brain Hospital, Jiangsu 210029, People's Republic of China.
4
Department of Geriatric Neurology, Nanjing Medical University Affiliated to Nanjing Brain Hospital, Nanjing, Jiangsu 210029, People's Republic of China. Electronic address: zhangli_nbh@163.com.

Abstract

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 ɛ4 genetic variant. Bioinformatic analysis shows that -590C>T and -1098T>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.

KEYWORDS:

Alzheimer's disease; Han Chinese; IL-4; Linkage disequilibrium; Single nucleotide polymorphisms

PMID:
24463336
DOI:
10.1016/j.neulet.2014.01.019
[Indexed for MEDLINE]
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