Hong-Lei Li1, Ping Yang, Zhi-Jun Liu, Yi-Min Sun, Shen-Ji Lu, Qing-Qing Tao, Qi-Hao Guo, Zhi-Ying Wu. 1. aDepartment of Neurology and Institute of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou bDepartment of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai cDepartment of Neurology, General Hospital of Ningxia Medical University, Ningxia, China.
Abstract
OBJECTIVES: Recent genome-wide association studies identified bridging integrator 1 (Bin1) to be associated with sporadic Alzheimer's disease (SAD). To clarify the relevance of Bin1 as a genetic determinant of AD, we analyzed its association in a Han Chinese population from the South East part of mainland China. METHODS: This study investigated 427 SAD patients and 451 unrelated age-matched and sex-matched healthy controls. Two single nucleotide polymorphisms (rs7561528 and rs744373) adjacent to Bin1 that emerged from previous genome-wide association studies were genotyped using the MassARRAY Analyzer 4 Sequenom platform. RESULTS: As expected, the genotype distribution of rs7561528 was significantly different between the SAD group and the controls, with more AG in controls [odds ratio (OR) 0.605, 95% confidence interval (CI) 0.429-0.854, P=0.004], and the difference increased using an additive genetic model (OR 0.593, 95% CI 0.425-0.828, P=0.002). However, we did not observe a difference in the genotype distribution of the rs744373 between the SAD and the control group (OR 1.189, 95% CI 0.809-1.747, P=0.378). CONCLUSIONS: To the best of our knowledge, our study is the first to confirm the association of the variant rs7561528 adjacent to Bin1 with SAD in a Han Chinese Population.
OBJECTIVES: Recent genome-wide association studies identified bridging integrator 1 (Bin1) to be associated with sporadic Alzheimer's disease (SAD). To clarify the relevance of Bin1 as a genetic determinant of AD, we analyzed its association in a Han Chinese population from the South East part of mainland China. METHODS: This study investigated 427 SADpatients and 451 unrelated age-matched and sex-matched healthy controls. Two single nucleotide polymorphisms (rs7561528 and rs744373) adjacent to Bin1 that emerged from previous genome-wide association studies were genotyped using the MassARRAY Analyzer 4 Sequenom platform. RESULTS: As expected, the genotype distribution of rs7561528 was significantly different between the SAD group and the controls, with more AG in controls [odds ratio (OR) 0.605, 95% confidence interval (CI) 0.429-0.854, P=0.004], and the difference increased using an additive genetic model (OR 0.593, 95% CI 0.425-0.828, P=0.002). However, we did not observe a difference in the genotype distribution of the rs744373 between the SAD and the control group (OR 1.189, 95% CI 0.809-1.747, P=0.378). CONCLUSIONS: To the best of our knowledge, our study is the first to confirm the association of the variant rs7561528 adjacent to Bin1 with SAD in a Han Chinese Population.
Authors: Yuliya Voskobiynyk; Jonathan R Roth; J Nicholas Cochran; Travis Rush; Nancy Vn Carullo; Jacob S Mesina; Mohammad Waqas; Rachael M Vollmer; Jeremy J Day; Lori L McMahon; Erik D Roberson Journal: Elife Date: 2020-07-13 Impact factor: 8.140