Abstract
Alzheimer’s disease (AD) is a neurodegenerative disease characterized by progressive cognitive dysfunction and behavioral impairment. In China, the number of AD patients is growing rapidly, which poses a considerable burden on society and families. In recent years, through the advancement of genome-wide association studies, second-generation gene sequencing technology, and their application in AD genetic research, more genetic loci associated with the risk for AD have been discovered, including KCNJ15, TREM2, and GCH1, which provides new ideas for the etiology and treatment of AD. This review summarizes three early-onset AD causative genes (APP, PSEN1, and PSEN2) and some late-onset AD susceptibility genes and their mutation sites newly discovered in China, and briefly introduces the potential mechanisms of these genetic susceptibilities in the pathogenesis of AD, which would help in understanding the genetic mechanisms underlying this devastating disease.
Highlights
Based on data from the World Alzheimer Report, 2018, there were approximately 50 million dementia cases around the world in 2018, with the number projected to reach 152 million by 2050 [1]
We provide a brief description of the general genetic basis of different stages of Alzheimer’s disease (AD) worldwide, and summarize newly found mutations in the main risk genes in the Chinese population
AD is a neurodegenerative disease with complex pathological features, which are greatly affected by genetic factors
Summary
Based on data from the World Alzheimer Report, 2018, there were approximately 50 million dementia cases around the world in 2018, with the number projected to reach 152 million by 2050 [1]. Dementia has been the fastest growing epidemic in developed countries, with a prevalence of 1 in 10 persons in the population older than 65 years and over 50% in the population over 85 years old [2], most of the increase in global dementia cases will appear in developing countries over the several decades, especially in rapidly developing Asian countries, such as India and China. According to Wang et al, the pooled prevalence rate of dementia in mainland China was 4.9% (95% confidence interval: 4.3–5.4%) from 1985 to 2018, and it is speculated that the number of people affected by dementia will reach 16.93 million, 24.25 million, 31.98 million, and 35.98 million in 2020, 2030, 2040, and 2050, respectively [6]. We provide a brief description of the general genetic basis of different stages of AD worldwide, and summarize newly found mutations in the main risk genes in the Chinese population
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