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<p>We investigated the genetic landscape of Parkinson’s disease (PD) on the island of Crete. DNA samples from 360 PD patients and 251 controls were analyzed using a combination of genotyping, whole-exome sequencing, and targeted screening for <i>GBA1</i> variants p.N409S and p.L483P. A molecular diagnosis (heterozygous dominant/homozygous recessive pathogenic/likely pathogenic non-<i>GBA1</i> variant) was identified in 3.1% of patients, including <i>LRRK2</i>-PD (<i>n</i> = 4) and <i>SNCA</i>-PD (<i>n</i> = 1). A novel homozygous <i>PINK1</i> variant (p.Y295Ter) and a rare homozygous <i>FIG4</i> variant (p.I41T) were detected in two early-onset cases. About 10.3% of patients carried a <i>GBA1</i> variant, including four rare variants (p.C55S, p.H294Q, p.K237T, p.R502H), and had an adjusted earlier disease onset of 7.3 years. <i>GBA1</i> carriers had a 4.3-fold higher risk for PD compared to non-carriers. The proportion of <i>GBA1</i> in Crete highlights the distinct genetic PD profile in this population and supports targeted genetic testing and counseling.</p>

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The genetic architecture of Parkinson’s disease on the Island of Crete

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月18日

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  • Iro Boura,
  • Shaimaa Sait,
  • Nikolaos M. Marinakis,
  • Kumar Arvind,
  • Ruth Chia,
  • Anindita Ray,
  • Giannis Vatsellas,
  • Theodoros Loupis,
  • Vasiliki Pavlaki,
  • Periklis Makrythanasis,
  • Panayiotis Mitsias,
  • Georgia Xiromerisiou,
  • Sonja W. Scholz,
  • Cleanthe Spanaki

摘要

We investigated the genetic landscape of Parkinson’s disease (PD) on the island of Crete. DNA samples from 360 PD patients and 251 controls were analyzed using a combination of genotyping, whole-exome sequencing, and targeted screening for GBA1 variants p.N409S and p.L483P. A molecular diagnosis (heterozygous dominant/homozygous recessive pathogenic/likely pathogenic non-GBA1 variant) was identified in 3.1% of patients, including LRRK2-PD (n = 4) and SNCA-PD (n = 1). A novel homozygous PINK1 variant (p.Y295Ter) and a rare homozygous FIG4 variant (p.I41T) were detected in two early-onset cases. About 10.3% of patients carried a GBA1 variant, including four rare variants (p.C55S, p.H294Q, p.K237T, p.R502H), and had an adjusted earlier disease onset of 7.3 years. GBA1 carriers had a 4.3-fold higher risk for PD compared to non-carriers. The proportion of GBA1 in Crete highlights the distinct genetic PD profile in this population and supports targeted genetic testing and counseling.