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Approved Research

Rare variant contribution to human Parkinson's disease

Principal Investigator: Professor laixin Xia
Approved Research ID: 81596
Approval date: April 12th 2022

Lay summary

Like many other neurodegenerative diseases, Parkinson's Disease (PD) occur because of the death of brain nerve cells that could be contributed by genetic component and environment factors, etc. This disease is difficult to prevent and treatment does not necessarily work. PD adversely affects patients' and their family members' life quality. PD has been a severe public health issue worldwide.

One of the reasons why some people have PD while others do not is genetic mutations that means there are differences between people in their DNA. Therefore, it is important to find out genetic mutations that play important roles in the development and progression of PD. Previously, many researches on PD have been reported, but its exact mechanism is still unclear.

In the past few years, many studies reported the relevance between common mutations and PD. These common mutations are more common in people suffering from PD than in people who are well. However, the effect size of common mutations is small, which means this class of mutations usually have a small influence on many diseases and traits. Now many researchers focus on rare variants. Compared to the common variants, rare variants have much lower mutation frequency but more serious effects. Rare variants seem not occur in both PD patients and normal people if the research sample size is not big enough. Therefore, a large sample size is required to find and detect rare variants, which was a challenge in the past. Thanks to the large scale of genetic and health information provided by UKB, it is no longer difficult to analyze rare mutations.

We aim to identify rare variants which contribute to PD so as to identify the population at high risk of this disease. By using genetic data and diagnoses information, we will perform association analysis and other statistics analysis to identify associated variants and genes of PD and detect how they might work to increase the risk of PD. We will also conduct biochemical experiments and animal tests to verify the rare variants we get.

We hope these findings would make it easier to tell which individuals are at higher risk and find potential therapeutic target of PD. These results may guide us towards the aims of providing better prevention and treatment to PD patients and improving the quality of life in patients and their families. The project will last for three years.