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. 2024 Apr;39(4):728-733.
doi: 10.1002/mds.29753. Epub 2024 Feb 23.

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians

Oluwadamilola Omolara Ojo  1   2 , Sara Bandres-Ciga  3 , Mary B Makarious  4   5 , Peter Wild Crea  4   5 , Dena G Hernandez  4 , Henry Houlden  6 , Mie Rizig  6 , Andrew B Singleton  3   4 , Alastair J Noyce  7 , Mike A Nalls  3   4   8 , Cornelis Blauwendraat  3   4 , Njideka Ulunma Okubadejo  1   2 ; Nigeria Parkinson's Disease Research Network and the Global Parkinson's Genetics Program (GP2)
Collaborators, Affiliations

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians

Oluwadamilola Omolara Ojo et al. Mov Disord. 2024 Apr.

Abstract

Background: Rapid eye movement (REM) sleep behavior disorder (RBD) is an early feature of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Damaging coding variants in Glucocerebrosidase (GBA1) are a genetic risk factor for RBD. Recently, a population-specific non-coding risk variant (rs3115534) was found to be associated with PD risk and earlier onset in individuals of African ancestry.

Objectives: We aimed to investigate whether the GBA1 rs3115534 PD risk variant is associated with RBD in persons with PD.

Methods: We studied 709 persons with PD and 776 neurologically healthy controls from Nigeria. All DNA samples were genotyped and imputed, and the GBA1 rs3115534 risk variant was extracted. The RBD screening questionnaire (RBDSQ) was used to assess symptoms of possible RBD.

Results: RBD was present in 200 PD (28.2%) and 51 (6.6%) controls. We identified that the non-coding GBA1 rs3115534 risk variant is associated with possible RBD in individuals of Nigerian origin (β, 0.3640; standard error [SE], 0.103, P = 4.093e-04), as well as in all samples after adjusting for PD status (β, 0.2542; SE, 0.108; P = 0.019) suggesting that although non-coding, this variant may have the same downstream consequences as GBA1 coding variants.

Conclusions: Our results indicate that the non-coding GBA1 rs3115534 risk variant is associated with an increasing number of RBD symptoms in persons with PD of Nigerian origin. Further research is needed to assess if this variant is also associated with polysomnography-defined RBD and with RBD symptoms in DLB. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keywords: GBA1; Nigerians; Parkinson's disease; REM sleep behavior disorder; genetics; rs3115534.

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Conflict of interest statement

conflicts of interest:

Other authors have no conflicts to declare.

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References

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