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Your search keyword '"Estella P. S. Tong"' showing total 3 results
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3 results on '"Estella P. S. Tong"'

1. Deep learning-based polygenic risk analysis for Alzheimer’s disease prediction

Author

Xiaopu Zhou, Yu Chen, Fanny C. F. Ip, Yuanbing Jiang, Han Cao, Ge Lv, Huan Zhong, Jiahang Chen, Tao Ye, Yuewen Chen, Yulin Zhang, Shuangshuang Ma, Ronnie M. N. Lo, Estella P. S. Tong, Alzheimer’s Disease Neuroimaging Initiative, Vincent C. T. Mok, Timothy C. Y. Kwok, Qihao Guo, Kin Y. Mok, Maryam Shoai, John Hardy, Lei Chen, Amy K. Y. Fu, and Nancy Y. Ip

Subjects
Medicine
Abstract

Zhou et al. utilise deep learning to improve polygenic risk analysis for Alzheimer’s disease. Their computational approach outperforms existing statistical methods and helps to identify potential biological mechanisms of Alzheimer’s disease risk.

Published
2023
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2. Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population

Author

Xiaopu Zhou, Yu Chen, Fanny C. F. Ip, Nicole C. H. Lai, Yolanda Y. T. Li, Yuanbing Jiang, Huan Zhong, Yuewen Chen, Yulin Zhang, Shuangshuang Ma, Ronnie M. N. Lo, Kit Cheung, Estella P. S. Tong, Ho Ko, Maryam Shoai, Kin Y. Mok, John Hardy, Vincent C. T. Mok, Timothy C. Y. Kwok, Amy K. Y. Fu, and Nancy Y. Ip

Subjects
Alzheimer's disease, disease risk, polygenic risk score, population genetics, SORL1, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract Introduction Dozens of Alzheimer's disease (AD)‐associated loci have been identified in European‐descent populations, but their effects have not been thoroughly investigated in the Hong Kong Chinese population. Methods TaqMan array genotyping was performed for known AD‐associated variants in a Hong Kong Chinese cohort. Regression analysis was conducted to study the associations of variants with AD‐associated traits and biomarkers. Lasso regression was applied to establish a polygenic risk score (PRS) model for AD risk prediction. Results SORL1 is associated with AD in the Hong Kong Chinese population. Meta‐analysis corroborates the AD‐protective effect of the SORL1 rs11218343 C allele. The PRS is developed and associated with AD risk, cognitive status, and AD‐related endophenotypes. TREM2 H157Y might influence the amyloid beta 42/40 ratio and levels of immune‐associated proteins in plasma. Discussion SORL1 is associated with AD in the Hong Kong Chinese population. The PRS model can predict AD risk and cognitive status in this population.

Published
2020
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3. Association of SPI1 Haplotypes with Altered SPI1 Gene Expression and Alzheimer's Disease Risk

Author

Han, Cao, Xiaopu, Zhou, Yu, Chen, Fanny C F, Ip, Yuewen, Chen, Nicole C H, Lai, Ronnie M N, Lo, Estella P S, Tong, Vincent C T, Mok, Timothy C Y, Kwok, Amy K Y, Fu, and Nancy Y, Ip

Subjects
China, Haplotypes, Alzheimer Disease, Proto-Oncogene Proteins, Trans-Activators, Gene Expression, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
Abstract

Genetic studies reveal that single-nucleotide polymorphisms (SNPs) of SPI1 are associated with Alzheimer's disease (AD), while their effects in the Chinese population remain unclear.We aimed to examine the AD-association of SPI1 SNPs in the Chinese population and investigate the underlying mechanisms of these SNPs in modulating AD risk.We conducted a genetic analysis of three SPI1 SNPs (i.e., rs1057233, rs3740688, and rs78245530) in a Chinese cohort (n = 333 patients with AD, n = 721 normal controls). We also probed public European-descent AD cohorts and gene expression datasets to investigate the putative functions of those SNPs.We showed that SPI1 SNP rs3740688 is significantly associated with AD in the Chinese population (odds ratio [OR] = 0.72 [0.58-0.89]) and identified AD-protective SPI1 haplotypes β (tagged by rs1057233 and rs3740688) and γ (tagged by rs3740688 and rs78245530). Specifically, haplotypes β and γ are associated with decreased SPI1 gene expression level in the blood and brain tissues, respectively. The regulatory roles of these haplotypes are potentially mediated by changes in miRNA binding and the epigenetic landscape. Our results suggest that the AD-protective SPI1 haplotypes regulate pathways involved in immune and neuronal functions.This study is the first to report a significant association of SPI1 with AD in the Chinese population. It also identifies SPI1 haplotypes that are associated with SPI1 gene expression and decreased AD risk.

Published
2022

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