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Gene. 2014 Jun 1;542(2):141-5. doi: 10.1016/j.gene.2014.03.041. Epub 2014 Mar 25.

Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer's disease.

Author information

1
Institute of Environmental Health, Zhejiang University School of Medicine, Hangzhou 310058, China; Research Center for Molecular Medicine, Zhejiang University School of Medicine, Hangzhou 310058, China.
2
Institute of Environmental Health, Zhejiang University School of Medicine, Hangzhou 310058, China.
3
Institute of Environmental Health, Zhejiang University School of Medicine, Hangzhou 310058, China; Department of Public Health, Zhejiang University School of Medicine, Hangzhou 310058, China. Electronic address: chenguangdi@gmail.com.

Abstract

Progranulin is the precursor of granulins, and its down-regulation leads to neurodegeneration. Recent studies have indicated an association of progranulin polymorphism rs5848 with Alzheimer's disease (AD) risk, but the results remain controversial. To verify the association between rs5848 and AD risk, we retrieved the published literature from PubMed and other databases, and performed a meta-analysis by pooling all five studies containing 2502 AD cases and 2162 controls. The results showed that rs5848 is associated with increased risk of AD in homozygous (TT vs. CC: OR, 1.36; 95% CI, 1.11-1.66; P=0.003) and recessive models (TT vs. CC+CT: OR, 1.31; 95% CI, 1.08-1.58; P=0.006). This association was remained in Caucasian (2227 cases and 1902 controls). Our data indicate that TT allele of rs5848 is associated with increased risk of AD, suggesting that genetic variant of progranulin gene may play an important role in AD development.

KEYWORDS:

Alzheimer's disease; Meta-analysis; Polymorphism; Progranulin

PMID:
24680777
DOI:
10.1016/j.gene.2014.03.041
[Indexed for MEDLINE]

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