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Associations between apolipoprotein E gene polymorphisms and Alzheimer’s disease risk in a large Chinese Han population

Authors Wu P, Li H, Liu Z, Tao Q, Xu M, Guo Q, Hong Z, Sun Y

Received 28 August 2014

Accepted for publication 3 November 2014

Published 30 January 2015 Volume 2015:10 Pages 371—378


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Prof. Dr. Zhi-Ying Wu

Ping Wu,1,2 Hong-Lei Li,1 Zhi-Jun Liu,1 Qing-Qing Tao,1 Miao Xu,1 Qi-Hao Guo,1 Zhen Hong,1 Yi-Min Sun1

1Department of Neurology and Institute of Neurology, 2PET Center, Department of Nuclear Medicine, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, People’s Republic of China

Objective: Apolipoprotein E gene (APOE) polymorphisms contributing to the risk of sporadic Alzheimer’s disease (AD) have been identified for decades, but it has not been investigated in large AD samples of Chinese Han population.
Methods: We performed a cross-sectional study to explore the effect of APOE polymorphisms on sporadic AD in 875 sporadic AD patients and 1,195 cognitive normal controls of Chinese Han. Genotyping of APOE was determined by multiplex amplification refractory mutation system polymerase chain reaction.
Results: APOE ε3ε4 and ε4ε4  genotypes increased AD risk with dosage effect. The odds ratio (OR) of ε3ε4 was 1.89 and the OR of ε4ε4 was 15.64 compared with that of ε3ε3 in all the subjects. E2ε3 genotype decreased AD risk in all the subjects (OR=0.64), female subgroup (OR=0.57), and late-onset AD subgroup (OR=0.60). However, neither ε2ε2 nor ε2ε4 affected AD risk. About the age at onset (AAO), the influence of APOE ε4 was only exhibited in late-onset AD subgroup, with 1 year lower in ε4-positive ones than negative ones. Further analysis did not show the dosage effect of Ε4 pertinent to AAO, though the AAO of ε4ε4 patients decreased by 2 years. E2 did not affect the AAO of AD.
Conclusion: APOE ε4  is a strong risk factor of AD risk in Chinese Han population, and APOE ε4ε4 genotype might be related to the AAO of late-onset AD.

Keywords: sporadic, cross sectional study, dosage effect, age at onset

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