Research Papers: Gerotarget (Focus on Aging):
Impact of SORL1 genetic variations on MRI markers in non-demented elders
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Rui-Hua Yin1, Jun Li1, Lin Tan3, Hui-Fu Wang1, Meng-Shan Tan1, Wan-Jiang Yu3, Chen-Chen Tan1, Jin-Tai Yu1, Lan Tan1,2, Alzheimer’s Disease Neuroimaging Initiative**
1 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China
2 College of Medicine and Pharmaceutics, Ocean University of China, Qingdao, China
3 Department of Radiology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China
** Data used in preparation of this article were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database ( ). As such, the investigators within the ADNI contributed to the design and implementation of ADNI and/or provided data but did not participate in analysis or writing of this report. A complete listing of ADNI investigators can be found at: http://adni.loni.usc.edu/wp-content/uploads/how_to_apply/ADNI_Acknowledgement_List.pdf
Lan Tan, email:
Jin-Tai Yu, email:
Keywords: SORL1; Alzheimer’s Disease; Alzheimer’s Disease Neuroimaging Initiative (ADNI); hippocampus; parahippocampal; Gerotarget
Received: January 16, 2016 Accepted: April 16, 2016 Published: May 11, 2016
The sorting protein-related receptor 1 (SORL1 or LR11) gene has been verified to play an important role in the pathologic process of β-amyloid (Aβ) formation and trafficking in Alzheimer’s Disease (AD) by plenty of cytological and molecular biological studies. But there were few studies investigated the association of SORL1 gene and neurodegeneration features from a rather macroscopic perspective. In the present study, we explored the effect of SORL1 genotypes on AD-related brain atrophy. We recruited 812 individuals with both baseline and two-year follow-up information from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database and applied multiple linear regression models to examine the association between eight single nucleotide polymorphisms (SNPs) and neuroimaging phenotypes. Finally, four SNPs (rs11219350, rs2298813, rs3781836, rs3824968) showed trend of association with the volume of hippocampus and parahippocampal gyrus but failed to survive the false discovery rate (FDR) correction. Only rs1784933 and rs753780 showed significant association with right parahippocampal gyrus. According to our findings, SORL1 variations influence the atrophy of specific AD-related brain structures, which suggested the potential role of SORL1 in the neurodegeneration of cognitive related regions.
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