LRRK2 变异与非裔美国人帕金森病。
LRRK2 variation and Parkinson's disease in African Americans.
机构信息
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
出版信息
Mov Disord. 2010 Sep 15;25(12):1973-6. doi: 10.1002/mds.23163.
Abstract
The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted.
摘要
LRRK2 突变的全球影响尚未在特定种族群体中得到体现，包括亚洲人和非洲裔人群。在此，我们通过对一系列公开的非洲裔美国帕金森病患者进行完整外显子测序，研究了常见 LRRK2 变异的频率。我们的研究鉴定了三个新的同义外显子变异和 13 个已知的编码变异；然而，似乎没有任何常见的（>5%）致病性突变。鉴于先前在 PD 中鉴定出的特定于种族的 LRRK2 变异，有必要在代表性不足的人群中进行进一步研究。
相似文献
1
LRRK2 variation and Parkinson's disease in African Americans.LRRK2 变异与非裔美国人帕金森病。
Mov Disord. 2010 Sep 15;25(12):1973-6. doi: 10.1002/mds.23163.
2
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.LRRK2 外显子变异与帕金森病易感性的关联：一项病例对照研究。
Lancet Neurol. 2011 Oct;10(10):898-908. doi: 10.1016/S1474-4422(11)70175-2. Epub 2011 Aug 30.
3
Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.塞尔维亚人群帕金森病患者中LRRK2基因新变异的鉴定
J Neurol Sci. 2015;353(1-2):59-62. doi: 10.1016/j.jns.2015.04.002. Epub 2015 Apr 12.
4
Low frequency of common LRRK2 mutations in Mexican patients with Parkinson's disease.墨西哥帕金森病患者中常见 LRRK2 突变的低频。
Neurosci Lett. 2010 Nov 19;485(2):79-82. doi: 10.1016/j.neulet.2010.08.029. Epub 2010 Aug 18.
5
Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.在卡拉布里亚人群中发现三个与帕金森病相关的 LRRK2 新突变。
J Alzheimers Dis. 2014;38(2):351-7. doi: 10.3233/JAD-130689.
6
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.日本帕金森病患者中的LRRK2突变与风险变异
Mov Disord. 2009 May 15;24(7):1034-41. doi: 10.1002/mds.22514.
7
Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.对葡萄牙帕金森病患者进行 LRRK2 和 GBA 的全面筛查：发现一个携带 LRRK2 p.Arg1441His 突变和新错义变异的新家族。
Parkinsonism Relat Disord. 2013 Oct;19(10):897-900. doi: 10.1016/j.parkreldis.2013.05.003. Epub 2013 May 28.
8
LRRK2 and Parkinson's disease in Norway.挪威的LRRK2与帕金森病
Acta Neurol Scand Suppl. 2007;187:72-5. doi: 10.1111/j.1600-0404.2007.00852.x.
9
The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?患有帕金森病的阿什肯纳兹犹太人中LRRK2基因G2019S突变：是否存在性别效应？
Neurology. 2007 Oct 16;69(16):1595-602. doi: 10.1212/01.wnl.0000277637.33328.d8.
10
Absence of commonly reported leucine-rich repeat kinase 2 mutations in Eastern Indian Parkinson's disease patients.东印度帕金森病患者中常见的富含亮氨酸重复激酶2突变缺失。
Genet Test Mol Biomarkers. 2010 Oct;14(5):691-4. doi: 10.1089/gtmb.2010.0054. Epub 2010 Aug 19.
引用本文的文献
1
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.非洲及非洲裔混血人群中帕金森病的大规模基因特征分析。
medRxiv. 2025 Jan 20:2025.01.14.25320205. doi: 10.1101/2025.01.14.25320205.
2
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.在非洲和非洲混合人群中与帕金森病相关的遗传风险基因座和因果关系的鉴定：一项全基因组关联研究。
Lancet Neurol. 2023 Nov;22(11):1015-1025. doi: 10.1016/S1474-4422(23)00283-1. Epub 2023 Aug 23.
3
Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.全基因组关联研究揭示非洲及非裔混血人群中与帕金森病相关的新病因学见解。
medRxiv. 2023 May 7:2023.05.05.23289529. doi: 10.1101/2023.05.05.23289529.
4
Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease.解析导致白种人帕金森病 LRRK2 GWAS 信号的非编码变异的精细图谱。
Parkinsonism Relat Disord. 2021 Feb;83:22-30. doi: 10.1016/j.parkreldis.2020.12.016. Epub 2021 Jan 11.
5
Low Levels of LRRK2 Gene Expression are Associated with LRRK2 SNPs and Contribute to Parkinson's Disease Progression.低水平的LRRK2基因表达与LRRK2单核苷酸多态性相关，并促进帕金森病进展。
Neuromolecular Med. 2021 Jun;23(2):292-304. doi: 10.1007/s12017-020-08619-x. Epub 2020 Oct 4.
6
Parkinson's Disease in African Americans: A Review of the Current Literature.非裔美国人的帕金森病：对当前文献的综述。
J Parkinsons Dis. 2020;10(3):831-841. doi: 10.3233/JPD-191823.
7
Parkinson disease in the elderly adult.老年成人帕金森病
Mo Med. 2013 Sep-Oct;110(5):406-10.
本文引用的文献
1
Haploview: Visualization and analysis of SNP genotype data.Haploview：单核苷酸多态性（SNP）基因型数据的可视化与分析
Cold Spring Harb Protoc. 2009 Oct;2009(10):pdb.ip71. doi: 10.1101/pdb.ip71.
2
Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.对患有明显散发性帕金森病的尼日利亚人进行LRRK2、PRKN和ATXN3基因突变分析。
PLoS One. 2008;3(10):e3421. doi: 10.1371/journal.pone.0003421. Epub 2008 Oct 17.
3
LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study.突尼斯阿拉伯-柏柏尔患者中LRRK2基因Gly2019Ser突变的外显率：一项病例对照基因研究。
Lancet Neurol. 2008 Jul;7(7):591-4. doi: 10.1016/S1474-4422(08)70116-9. Epub 2008 Jun 6.
4
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.对Lrrk2基因R1628P位点作为帕金森病风险因素的分析。
Ann Neurol. 2008 Jul;64(1):88-92. doi: 10.1002/ana.21405.
5
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.富含亮氨酸重复激酶2基因R1441C型帕金森综合征在临床上与散发性帕金森病相似。
Neurology. 2008 Apr 15;70(16 Pt 2):1456-60. doi: 10.1212/01.wnl.0000304044.22253.03. Epub 2008 Mar 12.
6
An analysis of genetic studies of Parkinson's disease in Africa.非洲帕金森病基因研究分析
Parkinsonism Relat Disord. 2008;14(3):177-82. doi: 10.1016/j.parkreldis.2007.08.006. Epub 2007 Sep 18.
7
Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.突尼斯和北美白种人帕金森病家族中LRRK2基因G2019S突变的筛查及临床比较
Mov Disord. 2007 Jan;22(1):55-61. doi: 10.1002/mds.21180.
8
Parkinson's disease in Africa: A systematic review of epidemiologic and genetic studies.非洲的帕金森病：流行病学与遗传学研究的系统综述
Mov Disord. 2006 Dec;21(12):2150-6. doi: 10.1002/mds.21153.
9
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.携带纯合富亮氨酸重复激酶2基因G2019S突变的帕金森病患者的临床特征。
Arch Neurol. 2006 Sep;63(9):1250-4. doi: 10.1001/archneur.63.9.1250.
10
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.LRRK2基因中的一种常见错义变体，Gly2385Arg，与台湾地区帕金森病风险相关。
Neurogenetics. 2006 Jul;7(3):133-8. doi: 10.1007/s10048-006-0041-5. Epub 2006 Apr 22.
Zotero 插件