The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.

IF 6.7 1区医学 Q1 NEUROSCIENCES NPJ Parkinson's Disease Pub Date : 2024-11-06 DOI:10.1038/s41531-024-00826-8

Martina B William, Sharifa Hamed, Ali Shalash, Eman M Khedr, Mohamed H Yousef, Shaimaa El-Jaafary, Gharib Fawi, Asmaa Helmy, Eman Hamid, Mohamed Essam, Hamin Lee, Alina Jama, Mohamed Koraym, Doaa M Mahmoud, Sara Elfarrash, Yasmin Elsaid, Asmaa S Gabr, Nourhan Shebl, Nesreen Abdelwahhab, Tamer M Belal, Nehal A B Elsayed, Mohamed El-Gamal, Shimaa Elgamal, Salma Ragab, Jaidaa Mekky, Lobna Aly, Samir Nabhan, Gaafar Ragab, Mohamed A Hussein, Mohamed Tharwat Hegazy, Henry Houlden, Mohamed Salama, Mie Rizig

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Abstract

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.

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p.Gly2019Ser是埃及家族性和散发性帕金森病患者中常见的LRRK2致病变体。

LRRK2变体对埃及人患帕金森病风险的影响尚不清楚。我们对来自埃及16个省的1210名埃及人（611名帕金森病患者和599名对照组）进行了研究，以检测12个LRRK2致病变体。p.Gly2019Ser是唯一检测到的变异，在散发性病例中的发病率为4.1%，在家族性病例中的发病率为6.5%，在对照组中的发病率为0.68%。在p.Gly2019Ser携带者中，除一名同型患者外，其余均为杂合子，且均具有共同的单倍型1。携带者和非携带者的人口统计学特征和UPDRS评分没有差异，大多数患者为男性，在50多岁时发病。年轻早发型帕金森病的发病率在携带者中为37.5%，在非携带者中为33%。家族病例在携带者中占16.6%，在非携带者中占11.5%。这项研究证实，与其他地中海地区的人群一样，患有帕金森病的埃及人p.Gly2019Ser变异的患病率高于全球平均水平。在这一人群中，LRRK2抑制剂可能是很有希望的治疗选择，有待进一步探索。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

NPJ Parkinson's Disease Medicine-Neurology (clinical)

CiteScore

9.80

自引率

5.70%

发文量

156

审稿时长

11 weeks

期刊介绍： npj Parkinson's Disease is a comprehensive open access journal that covers a wide range of research areas related to Parkinson's disease. It publishes original studies in basic science, translational research, and clinical investigations. The journal is dedicated to advancing our understanding of Parkinson's disease by exploring various aspects such as anatomy, etiology, genetics, cellular and molecular physiology, neurophysiology, epidemiology, and therapeutic development. By providing free and immediate access to the scientific and Parkinson's disease community, npj Parkinson's Disease promotes collaboration and knowledge sharing among researchers and healthcare professionals.