REVIEW: Genetic Architecture of Parkinson’s Disease

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Maria I. Shadrina^1,a* and Petr A. Slominsky¹

¹Institute of Molecular Genetics, Kurchatov Institute National Research Centre, 123182 Moscow, Russia

^* To whom correspondence should be addressed.

Received November 2, 2022; Revised January 25, 2023; Accepted January 25, 2023

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Year 2022 marks 25 years since the first mutation in familial autosomal dominant Parkinson’s disease was identified. Over the years, our understanding of the role of genetic factors in the pathogenesis of familial and idiopathic forms of Parkinson’s disease has expanded significantly – a number of genes for the familial form of the disease have been identified, and DNA markers for an increased risk of developing its sporadic form have been found. But, despite all the success achieved, we are far from an accurate assessment of the contribution of genetic and, even more so, epigenetic factors to the disease development. The review summarizes the information accumulated to date on the genetic architecture of Parkinson’s disease and formulates issues that need to be addressed, which are primarily related to the assessment of epigenetic factors in the disease pathogenesis.

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KEY WORDS: Parkinson’s disease, monogenic form, sporadic form, genetics, mutation analysis, genome-wide association analysis, epigenetics, genetic risk

DOI: 10.1134/S0006297923030100

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