Journal
NEUROBIOLOGY OF AGING
Volume 88, Issue -, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2019.12.011
Keywords
Glucocerebrosidase; GBA variants; Parkinson's disease; South African; African ancestry
Categories
Funding
- National Research Foundation of South Africa, South Africa [106052]
- South African Medical Research Council, South Africa (Self-Initiated Research Grant)
- Stellenbosch University
- NRF-DST Centre of Excellence for Biomedical Tuberculosis Research
- South African Medical Research Council Centre for Tuberculosis Research
- Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town
- NIH
- Michael J. Fox Foundation
- American Parkinson Disease Association (APDA) Mayo Clinic Information and Referral Center
- Mayo Clinic APDA Center for Advanced Research
- Mayo Clinic Lewy Body Dementia Association (LBDA) Research Center of Excellence
- Mayo Clinic LBD Functional Genomics Program
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Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi Jewish patients. Notably, there are limited studies on black patients from the African continent; hence, we conducted a study on 30 South African black PD patients. All 11 exons of GBA were screened using a nested PCR approach to avoid pseudogene contamination. We identified previously described Gaucher's disease-associated variants, p.R120W in one patient [age at onset (AAO) of 35 years], and p.R131L in another patient (AAO 30 years) and in her affected sibling (AAO 45 years). In addition, we found 3 previously identified [p.K(-27)R, p.T36del, and p.Q497*] and 2 novel (p.F216L and p.G478R) variants. Screening of ethnic-matched controls for the novel variants revealed that the allele frequency of p.F216L was 9.9%, whereas p.G478R was not found in the controls. Studies such as these are important and necessary to reveal the genetic architecture underlying PD in the understudied patients of African ancestry. (C) 2019 Elsevier Inc. All rights reserved.
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