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Background  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.    Methods  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 < 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.    Results  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 ( p  = 0.038).    Conclusion  An increased aggregate burden of the  COL6A3  gene was detected in patients with PD.

Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson’s disease