Research Papers:

EXOC3L2 rs597668 variant contributes to Alzheimer’s disease susceptibility in Asian population

Qing-jian Wu, Shu-yin Sun, Cheng-jun Yan, Zi-cui Cheng, Ming-feng Yang, Zi-fei Li, Hou-wen Cheng and Ti-kun Fang _

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Oncotarget. 2017; 8:20086-20091. https://doi.org/10.18632/oncotarget.15380

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Qing-Jian Wu1,2,3,*, Shu-Yin Sun1,*, Cheng-Jun Yan1,*, Zi-Cui Cheng4, Ming-Feng Yang3, Zi-Fei Li1, Hou-Wen Cheng3, Ti-Kun Fang1

1Department of Emergency, Jining No. 1 People’s Hospital, Jining, Shandong, 272011, China

2Department of Neurology, Shandong University School of Medicine, Jinan, Shandong, 250012, China

3Key Lab of Cerebral Microcirculation in Universities of Shandong, Taishan Medical University, Taian, Shandong, 271000, China

4Department of Encephalopathy Rehabiliation Center, Taian Traditional Chinese Medical Hospital, Taian, Shandong, 271000, China

*These authors have contributed equally to this work

Correspondence to:

Ti-Kun Fang, email: [email protected]

Keywords: Alzheimer’s disease, genome-wide association studies, EXOC3L2, rs597668

Received: November 17, 2016     Accepted: January 11, 2017     Published: February 16, 2017


Recent genome-wide association studies have established the association between EXOC3L2 rs597668 variant and Alzheimer’s disease (AD) in European population. However, recent studies reported inconsistent results in Asian population. Here, we performed a systematic review and meta-analysis to evaluate the impact of rs597668 on AD risk in Asian population using a total of 8686 samples including 2855 cases and 5831 controls. Meanwhile, we selected 17,008 AD cases and 37,154 controls in European population to evaluate the potential heterogeneity between East Asian and European populations. In East Asian population, we identified no potential heterogeneity with P=0.31 and I2 = 15.8%. By meta-analysis, we identified positive association between rs597668 and AD risk with P=0.023, OR=0.93, 95% CI 0.87-0.99. We further found significant heterogeneity in pooled Asian and European populations with P<0.0001 and I2 = 87.7%. The meta-analysis indicated negative association with P=0.66, OR=0.97, 95% CI 0.85-1.11. In summary, all these findings indicate that rs597668 C allele is a risk factor for AD in European population with OR=1.18 and P=2.49E-13. However the rs597668 C allele played a protective role in AD with OR=0.93 and P=0.023 in East Asian population.

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