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    To date, the genetic contribution to Parkinson's disease (PD) remains unclear. Mutations in the collagen type VI alpha 3 (COL6A3) gene were recently identified as a cause of isolated dystonia. Since PD and dystonia are closely related disorders with shared clinical and genetic characteristics, we explored the association between COL6A3 and PD in a Chinese cohort. We performed genetic screening of COL6A3 in a Chinese cohort of 173 patients with sporadic PD and 200 healthy controls. We identified variants that are likely to have pathogenic effects based on: 1) a minor allele frequency of <ā€‰0.01; and 2) the variant being recognized as deleterious by at least 15 different in silico predicting tools. Finally, we tested the aggregate burden of COL6A3 on PD via SKAT-O analysis. First, we found compound heterozygous COL6A3 gene mutations in one early-onset PD patients. Then, we explored whether COL6A3 variants contributed to increased risk of developing PD in a Chinese population. We detected 21 rare non-synonymous variants. Pathogenicity predictions identified 7 novel non-synonymous variants as likely to be pathogenic. SKAT-O analysis further revealed that an aggregate burden of variants in COL6A3 contributes to PD (pā€‰=ā€‰0.038). An increased aggregate burden of the COL6A3 gene was detected in patients with PD.


    Chong-Yao Jin, Ran Zheng, Zhi-Hao Lin, Nai-Jia Xue, Ying Chen, Ting Gao, Yi-Qun Yan, Yi Fang, Ya-Ping Yan, Xin-Zhen Yin, Jun Tian, Jia-Li Pu, Bao-Rong Zhang. Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease. BMC neurology. 2021 May 08;21(1):187

    PMID: 33964895

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