AI Article Synopsis
- This study explores the role of structural variants, copy number variants, and short tandem repeats in Parkinson's disease by analyzing data from 466 PD patients and 513 controls.
- The researchers identified tens of thousands of genetic variations and found that certain CNV deletions were more common in PD patients, particularly at the ends of autosomal chromosomes.
- They confirmed specific deletions near the MUC19 and RXFP1 genes, along with certain repeat variants in SLC2A13, were significantly linked to PD and may affect the severity of other genetic risk factors like the LRRK2 G2385R variant.
Article Abstract
While numerous single nucleotide variants and small indels have been identified in Parkinson's disease (PD), the contribution of structural variants (SVs), copy number variants (CNVs), and short tandem repeats (STRs) remains poorly understood. Here we investigated the association using the high-depth whole-genome sequencing data from 466 Chinese PD patients and 513 controls. Totally, we identified 29,561 SVs, 32,153 CNVs, and 174,905 STRs, and found that CNV deletions were significantly enriched in the end-proportion of autosomal chromosomes in PD. After genome-wide association analysis and replication in an external cohort of 352 cases and 547 controls, we validated that the 1.6 kb-deletion neighboring MUC19, 12.4kb-deletion near RXFP1 and GGGAAA repeats in SLC2A13 were significantly associated with PD. Moreover, the MUC19 deletion and the SLC2A13 5-copy repeat reduced the penetrance of the LRRK2 G2385R variant. Moreover, genes with these variants were dosage-sensitive. These data provided novel insights into the genetic architecture of PD.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11266557 | PMC |
| http://dx.doi.org/10.1038/s41531-024-00722-1 | DOI Listing |
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