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<p>REM sleep behavior disorder (RBD), is a prodromal synucleinopathy affecting a subset of Parkinson’s disease (PD) patients and associated with neuropsychiatric symptoms. This study compared the genetic profiles of 13,020 PD patients with probable RBD (PD + RBD) and 5403 without (PD-RBD) using genome-wide association study (GWAS). RBD was assessed by questionnaires or self-reporting. Potential genetic correlations between neuropsychiatric traits and PD + RBD were assessed using linkage disequilibrium score regression. The top variant in the <i>SNCA</i> locus was associated with PD + RBD (rs10005233-T, OR = 1.21, 95% CI = 1.16–1.27, <i>p</i> = 1.81e−15). PD risk variants in <i>SNCA</i> (rs5019538-G, OR = 0.85, 95% CI = 0.81–0.89, <i>p</i> = 2.46e−10; rs356182-G, OR = 0.89, 95% CI = 0.84–0.95, <i>p</i> = 0.0001) and <i>LRRK2</i> loci (rs34637584, OR = 0.41, 95% CI = 0.28–0.61, <i>p</i> = 1.04e−5) were associated with reduced PD + RBD risk. A suggestive genetic correlation between attention deficit hyperactivity disorder and PD + RBD was observed but was not statistically significant after correction. These findings highlight genetic distinctions between PD + RBD and PD-RBD, offering insights into PD stratification and potential subtype-specific treatments.</p>

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Genome-wide association study of REM sleep behavior disorder in Parkinson’s disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月25日

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  • Yuri L. Sosero,
  • Karl Heilbron,
  • Pierre Fontanillas,
  • Lucy Norcliffe-Kaufmann,
  • Eric Yu,
  • Uladzislau Rudakou,
  • Jennifer A. Ruskey,
  • Kathryn Freeman,
  • Farnaz Asayesh,
  • Kajsa A. Brolin,
  • Maria Swanberg,
  • Huw R. Morris,
  • Lesley Wu,
  • Raquel Real,
  • Lasse Pihlstrøm,
  • Manuela Tan,
  • Thomas Gasser,
  • Kathrin Brockmann,
  • Hui Liu,
  • Michele T. M. Hu,
  • Donald G. Grosset,
  • Simon J. G. Lewis,
  • John B. Kwok,
  • Pau Pastor,
  • Ignacio Alvarez,
  • Matej Skorvanek,
  • Alexandra Lackova,
  • Miriam Ostrozovicova,
  • Mie Rizig,
  • Lynne Krohn,
  • Ziv Gan-Or

摘要

REM sleep behavior disorder (RBD), is a prodromal synucleinopathy affecting a subset of Parkinson’s disease (PD) patients and associated with neuropsychiatric symptoms. This study compared the genetic profiles of 13,020 PD patients with probable RBD (PD + RBD) and 5403 without (PD-RBD) using genome-wide association study (GWAS). RBD was assessed by questionnaires or self-reporting. Potential genetic correlations between neuropsychiatric traits and PD + RBD were assessed using linkage disequilibrium score regression. The top variant in the SNCA locus was associated with PD + RBD (rs10005233-T, OR = 1.21, 95% CI = 1.16–1.27, p = 1.81e−15). PD risk variants in SNCA (rs5019538-G, OR = 0.85, 95% CI = 0.81–0.89, p = 2.46e−10; rs356182-G, OR = 0.89, 95% CI = 0.84–0.95, p = 0.0001) and LRRK2 loci (rs34637584, OR = 0.41, 95% CI = 0.28–0.61, p = 1.04e−5) were associated with reduced PD + RBD risk. A suggestive genetic correlation between attention deficit hyperactivity disorder and PD + RBD was observed but was not statistically significant after correction. These findings highlight genetic distinctions between PD + RBD and PD-RBD, offering insights into PD stratification and potential subtype-specific treatments.