The impact of LRRK2 variants on the risk of Parkinson’s disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Young and Early-onset PD prevalence was 37.5% in carriers and 33% in non-carriers. Familial cases were 16.6% in carriers and 11.5% in non-carriers. This study affirms that like other Mediterranean populations, Egyptians with PD have a higher prevalence of the p.Gly2019Ser variant compared to the global average. LRRK2 inhibitors could be promising therapeutic options for further exploration in this population.

LRRK2 变体对埃及人患帕金森病风险的影响仍然未知。我们检查了来自埃及 16 个省的 1210 名埃及人 （611 名 PD 患者和 599 名对照者） 的 12 种 LRRK2 致病性变异。p.Gly2019Ser 是唯一检测到的变体，散发病例的患病率为 4.1%，家族病例为 6.5%，对照组为 0.68%。在 p.Gly2019Ser 携带者中，除 1 名纯合子患者外，均为杂合子，并且均具有共同的单倍型 1。携带者和非携带者之间的人口统计学和 UPDRS 评分没有差异，大多数患者是男性，在 50 多岁时发生 PD。年轻和早发性 PD 患病率在携带者中为 37.5%，在非携带者中为 33%。家族病例在携带者中为 16.6%，在非携带者中为 11.5%。这项研究证实，与其他地中海人群一样，与全球平均水平相比，患有 PD 的埃及人 p.Gly2019Ser 变体的患病率更高。LRRK2 抑制剂可能是在该人群中进一步探索的有希望的治疗选择。