The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset

María TeresaPeriñán


Genetic variation within the mitochondrial pathway contributes to the risk of Parkinson’s disease (PD). Recent genetic analyses have investigated the association between the RHOT1 and RHOT2 genes and PD etiology. Further, four mutations in the RHOT1 gene (p.R272Q, p.R450C, p.T351A, p.T610A) have been reported to be potentially associated with disease risk. As part of the International Parkinson’s Disease Genomics Consortium (IPDGC) efforts to evaluate reported PD risk factors we assessed the role of common and low frequency variants in both RHOT1 and also RHOT2 according to the high degree of homology in their amino acid sequences. Utilizing large-scale genotyping and whole-genome sequencing (WGS) data from the IPDGC and the Accelerating Medicines Partnership - Parkinson’s disease initiative (AMP-PD) initiative, our analyses did not identify evidence to support the hypothesis that RHOT1 and RHOT2 are disease-causing or modifying genes for PD risk or age at onset.




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