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
{"title":"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。","authors":"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","doi":"10.1038/s41531-024-00826-8","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"10 1","pages":"215"},"PeriodicalIF":6.7000,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11541850/pdf/","citationCount":"0","resultStr":"{\"title\":\"The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.\",\"authors\":\"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\",\"doi\":\"10.1038/s41531-024-00826-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":19706,\"journal\":{\"name\":\"NPJ Parkinson's Disease\",\"volume\":\"10 1\",\"pages\":\"215\"},\"PeriodicalIF\":6.7000,\"publicationDate\":\"2024-11-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11541850/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"NPJ Parkinson's Disease\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1038/s41531-024-00826-8\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"NEUROSCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"NPJ Parkinson's Disease","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41531-024-00826-8","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.
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.
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.
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