Chinese scientists identify new genetic risk factors of Alzheimer's disease

Updated 2018-04-09 08:45:24 Xinhua

Chinese scientists have conducted a whole-genome sequencing study for Alzheimer's disease in the Chinese population for the first time and have identified two new genetic risk factors associated with Alzheimer's.

A team of researchers led by Shenzhen Institute of Advanced Technology (SIAT) have identified common variants in GCH1 and KCNJ15 that show suggestive associations with Alzheimer's. Their research was published recently in the journal "Proceedings of the National Academy of Sciences."

Alzheimer's is an age-related neurodegenerative disease and the pathogenesis of the disease is not completely clear. The pathophysiological mechanisms of Alzheimer's are complex, with genetic factors playing critical roles.

Previous genome-wide association studies have identified several risk loci and genes associated with Alzheimer's. Most existing genetic data on Alzheimer's, however, is from Caucasian populations, and information for other ethnic populations is limited.

China has more than 7 million Alzheimer's patients and the number is expected to increase with the aging population.

As susceptibility to certain genetic risk factors varies among populations, it is necessary to report a whole-genome sequencing study for Alzheimer's in the Chinese population, according to SIAT.

The team selected a group of Chinese Alzheimer's patients and a group of healthy Chinese people of the same age and conducted genotype-expression analysis to further investigate the underlying biological mechanism.

Besides the two new genetic risk factors, the research also show that the risk genes interact with human immune signals, revealing the relationship between the immune system dysfunction and Alzheimer's.

The research may help in early diagnosis of Alzheimer's, biomarker research and drug development.

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