Alzheimer’s: genetic factors in Chinese population revealed

8 April 2018

A research team led by Professor Nancy Ip has identified new Alzheimer’s disease genetic risk factors in the Chinese population.

Prof Nancy Ip (Croucher Senior Research Fellowship 1998), of the Hong Kong University of Science and Technology, conducted the study in collaboration with five other researchers from the University College London, University of North Carolina, Shenzhen Institutes of Advanced Technology and Huashan Hospital.

Alzheimer’s disease is the most common form of dementia and is one of the leading causes of mortality in the elderly. This progressive age-related neurodegenerative disorder is characterised by amyloid plaques, neurofibrillary tangles and neurological inflammation, which result in cognitive decline and neuronal loss in the brain. Although the prevalence of Alzheimer’s is increasing rapidly with the growing aging population worldwide, the underlying causes of the disease are still unclear, which is a major challenge for effective diagnosis and treatment.

Understanding the genetic contributions to Alzheimer’s

Systematic studies of biomarkers can facilitate a deeper understanding of the cause of Alzheimer’s and provide insights for developing improved diagnostics and therapies for Alzheimer’s

Identifying disease-associated genetic risk factors is essential for deciphering the causes of the disease. Since these genetic risk factors may vary among ethnic groups, genetic studies across different ethnic populations are critical. However, a majority of these studies have been conducted in Caucasian populations, and there is relatively little data for other populations. This study is one of the first to investigate the genetic contributions to Alzheimer’s in the Chinese population.

By conducting the first whole-genome sequencing study in a Chinese Alzheimer’s cohort comprising thousands of participants, the team identified genetic factors associated with Alzheimer’s. The researchers identified variants of a well-studied genetic marker, APOE, as well as two other novel risk genes (GCH1 and KCNJ15) associated with Alzheimer’s. They also discovered that these risk factors are associated with the alteration of immune pathways, specifically changes in immune biomarkers in the brain and blood. These findings provide critical new evidence of the role of the immune system in Alzheimer’s pathology.

The work has been published in the Proceedings of the National Academy of Sciences.

“Systematic studies of biomarkers can facilitate a deeper understanding of the cause of Alzheimer’s and provide insights for developing improved diagnostics and therapies for Alzheimer’s,” said Ip. “Our next goal is to establish a comprehensive biomarker database for Chinese patients, including genetic, transcriptomic, proteomic, and brain imaging data, by broadening our collaboration with academics and physicians.”

Chinese University’s professor Timony Kwok Chi-yiu, an expert in dementia, believed the research has offered a positive sign in treating Alzheimer’s. “There is potential for this study to develop a cure,” Kwok said, but he stressed it would require a clinical study to determine its effect on humans since there were some previous breakthroughs in animals that could not be translated into human patients.

Prof Nancy Ip is currently the Vice-President for Research and Graduate Studies, The Morningside Professor of Life Science, and the Director of the State Key Laboratory of Molecular Neuroscience at HKUST. Since joining HKUST in 1993, she has served as Dean of Science, Director of the Biotechnology Research Institute, and Head of the Department of Biochemistry. Prof Ip’s outstanding scientific accomplishments have won her numerous awards and honours including the National Natural Science Awards, the L’OREAL-UNESCO ‘For Women in Science’ Award, and the 10 Science Stars of China by Nature. She has been elected to the National People’s Congress, the Chinese Academy of Sciences, the US National Academy of Sciences, the American Academy of Arts and Sciences, and the World Academy of Sciences. She is also a founding member of The Academy of Sciences of Hong Kong.

To View Prof Ip’s Croucher profile, please click here.