Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease

Movement Disorders

Volumn 31, Issue 4, 2016, Pages 484-487

  Foo, Jia Nee ^a   Chung, Sun Ju ^b   Tan, Louis C ^c   Liany, Herty ^a   Ryu, Ho Sung ^b   Hong, Myunghee ^b   Koh, Tat Hung ^a   Irwan, Ishak D ^a   Au, Wing Lok ^c   Prakash, Kumar M ^c   Aung, Tin ^d,e   Cheng, Ching Yu ^d,e,f   Chong, Siow Ann ^g   Khor, Chiea Chuen ^a,d,e   Lee, Jimmy ^f,g   Tai, E Shyong ^h,i   Vithana, Eranga N ^d,e,f   Wong, Tien Yin ^d,e,f   Song, Kyuyoung ^b   Liu, Jianjun ^a,i   Tan, Eng King ^c,f   more..

^a GENOME INSTITUTE OF SINGAPORE   (Singapore)

^b University of Ulsan College of Medicine   (South Korea)

^c SINGAPORE GENERAL HOSPITAL   (Singapore)

^d SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^e NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^f DUKE NUS MEDICAL SCHOOL   (Singapore)

^g INSTITUTE OF MENTAL HEALTH   (Singapore)

^h Dept Medicine Endocrinol Diabet   (Singapore)

ⁱ NATIONAL UNIVERSITY HEALTH SYSTEM   (Singapore)

Author keywords

Coding variants; Genome wide association; Human genetics; Parkinson's disease; Sequencing

Indexed keywords

AGED; ALLELE; ARTICLE; CHINESE; CONTROLLED STUDY; EAST ASIAN; EXON; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; KOREAN (PEOPLE); LRRK2 GENE; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MIDDLE AGED; SINGAPORE; SOUTH KOREA;

LEUCINE RICH REPEAT KINASE 2; LRRK2 PROTEIN, HUMAN;

AGED; EXONS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LEUCINE-RICH REPEAT SERINE-THREONINE PROTEIN KINASE-2; MALE; MIDDLE AGED; PARKINSON DISEASE; REPUBLIC OF KOREA; SINGAPORE;

EID: 84952334344     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26495     Document Type: Article

References (12)

1. Tan EK, Peng R, Teo YY, et al. Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study. Hum Mutat 2010;31:561-568.
2. Paisán-Ruíz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004;44:595-600.
3. Angeles DC, Gan BH, Onstead L, et al. Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death. Hum Mutat 2011;32:1390-1397.
4. Ng CH, Mok SZ, Koh C, et al. Parkin protects against LRRK2G2019S mutant-induced dopaminergic neurodegeneration in Drosophila. J Neurosci 2009;29:11257-11262.
5. Sheng D, Qu D, Kwok KH, et al. Deletion of the WD40 domain of LRRK2 in Zebrafish causes Parkinsonism-like loss of neurons and locomotive defect. PLoS Genet 2010;6:e1000914.
6. Foo JN, Tan LC, Liany H, et al. Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. Hum Mol Genet 2014;23:3891-3897.
7. Satake W, Nakabayashi Y, Mizuta I, et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 2009;41:1303-1307.
8. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978-989.
9. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575.
10. Kim JM, Lee JY, Kim HJ, et al. The LRRK2G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population. Parkinsonism Relat Disord 2010;16:85-88.
11. Nalls MA, Plagnol V, Hernandez DG, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 2011;377:641-649.
12. Trabzuni D, Ryten M, Emmett W, et al. Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. PLoS One 2013;8:e70724.