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@ARTICLE{Schneider:282914,
      author       = {Schneider, Zachary and Liu, Hui and Dehestani, Mohammad and
                      Makarious, Mary B and Crea, Peter Wild and Bandres-Ciga,
                      Sara and Gasser, Thomas and Kim, Jonggeol J},
      collaboration = {Program, Global Parkinson's Genetics},
      title        = {{A}ssessment of {SLC}25{A}46 variants in idiopathic
                      {P}arkinson's disease.},
      journal      = {Parkinsonism $\&$ related disorders},
      volume       = {143},
      issn         = {1353-8020},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {DZNE-2025-01375},
      pages        = {108092},
      year         = {2025},
      abstract     = {Rare damaging variants in the SLC25A46 gene were recently
                      reported to be associated with optic atrophy and
                      parkinsonism in compound heterozygous state. Here, we
                      comprehensively investigated the role of SLC25A46 variation
                      in idiopathic Parkinson's disease (PD) by leveraging whole
                      genome sequencing (WGS) and genotyping imputed data from the
                      Global Parkinson's Genetics Program (GP2) and the
                      Accelerating Medicines Partnership for Parkinson's disease
                      initiative (AMP-PD). Our analyses included genotyping
                      imputed data from 19,573 PD cases and 11,748 neurologically
                      healthy controls of European, African Admixed, African, East
                      Asian, Ashkenazi Jewish, Middle Eastern, Central Asian, and
                      Latino and Indigenous people of the Americas ancestries from
                      GP2. Additionally, we mined WGS data from 924 PD patients
                      and 229 healthy controls, as well as 3359 PD cases and 4153
                      neurologically healthy controls of European ancestry from
                      GP2 and AMP-PD, respectively. Burden analysis of rare
                      non-synonymous variants across case-control individuals from
                      WGS data did not find evidence of SLC25A46 association with
                      PD. Of the four SLC25A46 variants observed, the p.K256R
                      variant previously reported by Bitetto et al. was found in
                      1/3359 controls and 1/4153 cases of European ancestry but
                      its association was not significant. In addition, we
                      identified p.E79K/p.V211M in 1/3359 controls and 1/4153
                      cases, without confirmation of a putative compound
                      heterozygosity effect due to the lack of phasing data. This
                      variant was also identified in Admixed American/Latin
                      American, African Admixed, Ashkenazi Jewish, and Central
                      Asian ancestries. However, no significant enrichment in
                      cases versus controls was observed. Our results do not
                      support a major role for SLC25A46 in idiopathic PD in the
                      European population or other ancestries, though our
                      imputation results require cautious interpretation for
                      ultra-rare variants.},
      keywords     = {Genetics (Other) / Parkinson's disease (Other) / Risk
                      factor (Other) / SLC25A46 (Other)},
      cin          = {AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41385895},
      doi          = {10.1016/j.parkreldis.2025.108092},
      url          = {https://pub.dzne.de/record/282914},
}