Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

Michael G. Heckman; Alexandra I. Soto-Ortolaza; Jan O. Aasly; Nadine Abahuni; Grazia Annesi; Justin A. Bacon; Soraya Bardien; Maria Bozi; Alexis Brice; Laura Brighina; Jonathan Carr; Marie Christine Chartier-Harlin; Efthimios Dardiotis; Dennis W. Dickson; Nancy N. Diehl; Alexis Elbaz; Carlo Ferrarese; Brian Fiske; J. Mark Gibson; Rachel Gibson; Georgios M. Hadjigeorgiou; Nobutaka Hattori; John P.A. Ioannidis; Magdalena Boczarska-Jedynak; Barbara Jasinska-Myga; Beom S. Jeon; Yun Joong Kim; Christine Klein; Rejko Kruger; Elli Kyratzi; Suzanne Lesage; Chin Hsien Lin; Timothy Lynch; Demetrius M. Maraganore; George D. Mellick; Eugénie Mutez; Christer Nilsson; Grzegorz Opala; Sung Sup Park; Simona Petrucci; Andreas Puschmann; Aldo Quattrone; Manu Sharma; Peter A. Silburn; Young Ho Sohn; Leonidas Stefanis; Vera Tadic; Jessie Theuns; Hiroyuki Tomiyama; Ryan J. Uitti; Enza Maria Valente; Christine Van Broeckhoven; Simone Van De Loo; Demetrios K. Vassilatis; Carles Vilariño-Güell; Linda R. White; Karin Wirdefeldt; Zbigniew K. Wszolek; Ruey Meei Wu; Faycal Hentati; Matthew J. Farrer; Owen A. Ross

doi:10.1002/mds.25600

Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

Michael G. Heckman, Alexandra I. Soto-Ortolaza, Jan O. Aasly, Nadine Abahuni, Grazia Annesi, Justin A. Bacon, Soraya Bardien, Maria Bozi, Alexis Brice, Laura Brighina, Jonathan Carr, Marie Christine Chartier-Harlin, Efthimios Dardiotis, Dennis W. Dickson, Nancy N. Diehl, Alexis Elbaz, Carlo Ferrarese, Brian Fiske, J. Mark Gibson, Rachel GibsonGeorgios M. Hadjigeorgiou, Nobutaka Hattori, John P.A. Ioannidis, Magdalena Boczarska-Jedynak, Barbara Jasinska-Myga, Beom S. Jeon, Yun Joong Kim, Christine Klein, Rejko Kruger, Elli Kyratzi, Suzanne Lesage, Chin Hsien Lin, Timothy Lynch, Demetrius M. Maraganore, George D. Mellick, Eugénie Mutez, Christer Nilsson, Grzegorz Opala, Sung Sup Park, Simona Petrucci, Andreas Puschmann, Aldo Quattrone, Manu Sharma, Peter A. Silburn, Young Ho Sohn, Leonidas Stefanis, Vera Tadic, Jessie Theuns, Hiroyuki Tomiyama, Ryan J. Uitti, Enza Maria Valente, Christine Van Broeckhoven, Simone Van De Loo, Demetrios K. Vassilatis, Carles Vilariño-Güell, Linda R. White, Karin Wirdefeldt, Zbigniew K. Wszolek, Ruey Meei Wu, Faycal Hentati, Matthew J. Farrer, Owen A. Ross^*

^*Corresponding author for this work

30 Citations (Scopus)

Abstract

Background: Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. Methods: The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. Results: Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. Conclusions: Establishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies.

Original language	English
Journal	Movement Disorders
Volume	28
Issue number	12
Pages (from-to)	1740-1744
Number of pages	5
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.25600
Publication status	Published - 01.10.2013

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Heckman, M. G., Soto-Ortolaza, A. I., Aasly, J. O., Abahuni, N., Annesi, G., Bacon, J. A., Bardien, S., Bozi, M., Brice, A., Brighina, L., Carr, J., Chartier-Harlin, M. C., Dardiotis, E., Dickson, D. W., Diehl, N. N., Elbaz, A., Ferrarese, C., Fiske, B., Gibson, J. M., ... Ross, O. A. (2013). Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium. Movement Disorders, 28(12), 1740-1744. https://doi.org/10.1002/mds.25600

@article{24f83b058dc24ebd8a4f0ea489cb3e95,

title = "Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium",

abstract = "Background: Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. Methods: The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. Results: Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. Conclusions: Establishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies.",

author = "Heckman, \{Michael G.\} and Soto-Ortolaza, \{Alexandra I.\} and Aasly, \{Jan O.\} and Nadine Abahuni and Grazia Annesi and Bacon, \{Justin A.\} and Soraya Bardien and Maria Bozi and Alexis Brice and Laura Brighina and Jonathan Carr and Chartier-Harlin, \{Marie Christine\} and Efthimios Dardiotis and Dickson, \{Dennis W.\} and Diehl, \{Nancy N.\} and Alexis Elbaz and Carlo Ferrarese and Brian Fiske and Gibson, \{J. Mark\} and Rachel Gibson and Hadjigeorgiou, \{Georgios M.\} and Nobutaka Hattori and Ioannidis, \{John P.A.\} and Magdalena Boczarska-Jedynak and Barbara Jasinska-Myga and Jeon, \{Beom S.\} and Kim, \{Yun Joong\} and Christine Klein and Rejko Kruger and Elli Kyratzi and Suzanne Lesage and Lin, \{Chin Hsien\} and Timothy Lynch and Maraganore, \{Demetrius M.\} and Mellick, \{George D.\} and Eug{\'e}nie Mutez and Christer Nilsson and Grzegorz Opala and Park, \{Sung Sup\} and Simona Petrucci and Andreas Puschmann and Aldo Quattrone and Manu Sharma and Silburn, \{Peter A.\} and Sohn, \{Young Ho\} and Leonidas Stefanis and Vera Tadic and Jessie Theuns and Hiroyuki Tomiyama and Uitti, \{Ryan J.\} and Valente, \{Enza Maria\} and \{Van Broeckhoven\}, Christine and \{Van De Loo\}, Simone and Vassilatis, \{Demetrios K.\} and Carles Vilari{\~n}o-G{\"u}ell and White, \{Linda R.\} and Karin Wirdefeldt and Wszolek, \{Zbigniew K.\} and Wu, \{Ruey Meei\} and Faycal Hentati and Farrer, \{Matthew J.\} and Ross, \{Owen A.\}",

year = "2013",

month = oct,

day = "1",

doi = "10.1002/mds.25600",

language = "English",

volume = "28",

pages = "1740--1744",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

number = "12",

}

Heckman, MG, Soto-Ortolaza, AI, Aasly, JO, Abahuni, N, Annesi, G, Bacon, JA, Bardien, S, Bozi, M, Brice, A, Brighina, L, Carr, J, Chartier-Harlin, MC, Dardiotis, E, Dickson, DW, Diehl, NN, Elbaz, A, Ferrarese, C, Fiske, B, Gibson, JM, Gibson, R, Hadjigeorgiou, GM, Hattori, N, Ioannidis, JPA, Boczarska-Jedynak, M, Jasinska-Myga, B, Jeon, BS, Kim, YJ, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, CH, Lynch, T, Maraganore, DM, Mellick, GD, Mutez, E, Nilsson, C, Opala, G, Park, SS, Petrucci, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, PA, Sohn, YH, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, RJ, Valente, EM, Van Broeckhoven, C, Van De Loo, S, Vassilatis, DK, Vilariño-Güell, C, White, LR, Wirdefeldt, K, Wszolek, ZK, Wu, RM, Hentati, F, Farrer, MJ & Ross, OA 2013, 'Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium', Movement Disorders, vol. 28, no. 12, pp. 1740-1744. https://doi.org/10.1002/mds.25600

TY - JOUR

T1 - Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

AU - Heckman, Michael G.

AU - Soto-Ortolaza, Alexandra I.

AU - Aasly, Jan O.

AU - Abahuni, Nadine

AU - Annesi, Grazia

AU - Bacon, Justin A.

AU - Bardien, Soraya

AU - Bozi, Maria

AU - Brice, Alexis

AU - Brighina, Laura

AU - Carr, Jonathan

AU - Chartier-Harlin, Marie Christine

AU - Dardiotis, Efthimios

AU - Dickson, Dennis W.

AU - Diehl, Nancy N.

AU - Elbaz, Alexis

AU - Ferrarese, Carlo

AU - Fiske, Brian

AU - Gibson, J. Mark

AU - Gibson, Rachel

AU - Hadjigeorgiou, Georgios M.

AU - Hattori, Nobutaka

AU - Ioannidis, John P.A.

AU - Boczarska-Jedynak, Magdalena

AU - Jasinska-Myga, Barbara

AU - Jeon, Beom S.

AU - Kim, Yun Joong

AU - Klein, Christine

AU - Kruger, Rejko

AU - Kyratzi, Elli

AU - Lesage, Suzanne

AU - Lin, Chin Hsien

AU - Lynch, Timothy

AU - Maraganore, Demetrius M.

AU - Mellick, George D.

AU - Mutez, Eugénie

AU - Nilsson, Christer

AU - Opala, Grzegorz

AU - Park, Sung Sup

AU - Petrucci, Simona

AU - Puschmann, Andreas

AU - Quattrone, Aldo

AU - Sharma, Manu

AU - Silburn, Peter A.

AU - Sohn, Young Ho

AU - Stefanis, Leonidas

AU - Tadic, Vera

AU - Theuns, Jessie

AU - Tomiyama, Hiroyuki

AU - Uitti, Ryan J.

AU - Valente, Enza Maria

AU - Van Broeckhoven, Christine

AU - Van De Loo, Simone

AU - Vassilatis, Demetrios K.

AU - Vilariño-Güell, Carles

AU - White, Linda R.

AU - Wirdefeldt, Karin

AU - Wszolek, Zbigniew K.

AU - Wu, Ruey Meei

AU - Hentati, Faycal

AU - Farrer, Matthew J.

AU - Ross, Owen A.

PY - 2013/10/1

Y1 - 2013/10/1

N2 - Background: Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. Methods: The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. Results: Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. Conclusions: Establishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies.

AB - Background: Variants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. Methods: The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. Results: Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. Conclusions: Establishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies.

UR - https://www.scopus.com/pages/publications/84886446293

U2 - 10.1002/mds.25600

DO - 10.1002/mds.25600

M3 - Journal articles

C2 - 23913756

AN - SCOPUS:84886446293

SN - 0885-3185

VL - 28

SP - 1740

EP - 1744

JO - Movement Disorders

JF - Movement Disorders

IS - 12

ER -

Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

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