The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson's disease

被引：75

作者：

Li, Cao ^{[1
,2
]}

Ting, Zhang ^{[1
,2
]}

Qin, Xiao ^{[1
,2
]}

Ying, Wang ^{[1
,2
]}

Li, Bai ^{[1
,2
]}

Qiang, Lu Guo ^{[1
,2
]}

Fang, Ma Jian ^{[1
,2
]}

Jing, Zhang ^{[1
,2
]}

Qing, Ding Jian ^{[1
,2
,3
,4
]}

Di, Chen Sheng ^{[1
,2
,3
,4
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Neurol, Shanghai 200025, Peoples R China

[2] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Inst Neurosci, Shanghai 200025, Peoples R China

[3] Chinese Acad Sci, SIBS, Inst Hlth Sci, Shanghai, Peoples R China

[4] Shanghai Jiao Tong Univ, Sch Med, Shanghai 200030, Peoples R China

来源：

MOVEMENT DISORDERS | 2007年 / 22卷 / 16期

关键词：

Parkinson's disease; LRRK2; Gly2385Arg; Han ethnicity; China;

D O I：

10.1002/mds.21763

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We conducted a case-control study to determine the prevalence of the LRRK2 Gly2385Arg variant in patients with Parkinson's disease in Han population in mainland China. Heterozygous LRRK2 Gly2385Arg variant was identified in 14 of 235 patients with Parkinson's disease (5.69%), but not in 214 unrelated healthy controls. Multivariate analysis indicated the frequency of Gly2385Arg variant in the female patients with early age at onset is higher than their male counterparts. The founder haplotype analysis showed the variant carriers shared the same founder. Clinically, the LRRK2 Gly2385Arg carriers presented with classical Parkinson's disease symptoms. Our study indicates that the LRRK2 Gly2385Arg variant is a potential ethnic-specific genetic risk factor of Parkinson's disease within Chinese Han ethnicity. (c) 2007 Movement Disorder Society.

引用

页码：2439 / 2443

页数：5

共 20 条

[1]

The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease [J].

Cho, Jin-Whan ;

Kim, Sung-Yeon ;

Park, Sung-Sup ;

Kim, Han-Jun ;

Ahn, Tae-Beom ;

Kim, Jong-Min ;

Jeon, Beom-Seok .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2007, 34 (01) :53-55

[2]

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan [J].

Di Fonzo, Alessio ;

Wu-Chou, Yah-Huei ;

Lu, Chin-Song ;

van Doeselaar, Marina ;

Simons, Erik J. ;

Rohe, Christan F. ;

Chang, Hsiu-Chen ;

Chen, Rou-Shayn ;

Weng, Yi-Hsin ;

Vanacore, Nicola ;

Breedveld, Guido J. ;

Oostra, Ben A. ;

Bonifati, Vincenzo .

NEUROGENETICS, 2006, 7 (03) :133-138

[3]

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia [J].

Farrer, Matthew J. ;

Stone, Jeremy T. ;

Lin, Chin-Hsien ;

Dachsel, Justus C. ;

Hulihan, Mary M. ;

Haugarvoll, Kristoffer ;

Ross, Owen A. ;

Wu, Ruey-Meei .

PARKINSONISM & RELATED DISORDERS, 2007, 13 (02) :89-92

[4]

Leucine-Rich Repeat kinase 2 G238SR variant is a risk factor for Parkinson disease in Asian population [J].

Funayama, Manabu ;

Li, Yuanzhe ;

Tomiyama, Hiroyuki ;

Yoshino, Hiroyo ;

Imamichi, Yoko ;

Yamamoto, Mitsutoshi ;

Murata, Miho ;

Toda, Tatsushi ;

Mizuno, Yoshikuni ;

Hattori, Nobutaka .

NEUROREPORT, 2007, 18 (03) :273-275

[5]

HAUBENBERGER D, 2007, MOV DISORD

[6]

ACCURACY OF CLINICAL-DIAGNOSIS OF IDIOPATHIC PARKINSONS-DISEASE - A CLINICOPATHOLOGICAL STUDY OF 100 CASES [J].

HUGHES, AJ ;

DANIEL, SE ;

KILFORD, L ;

LEES, AJ .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1992, 55 (03) :181-184

[7]

Lrrk2 pathogenic substitutions in Parkinson's disease [J].

Mata, IF ;

Kachergus, JM ;

Taylor, JP ;

Lincoln, S ;

Aasly, J ;

Lynch, T ;

Hulihan, MM ;

Cobb, SA ;

Wu, RM ;

Lu, CS ;

Lahoz, C ;

Wszolek, ZK ;

Farrer, MJ .

NEUROGENETICS, 2005, 6 (04) :171-177

[8]

LRRK2 in Parkinson's disease: protein domains and functional insights [J].

Mata, Ignacio F. ;

Wedemeyer, William J. ;

Farrer, Matthew J. ;

Taylor, Julie P. ;

Gallo, Kathleen A. .

TRENDS IN NEUROSCIENCES, 2006, 29 (05) :286-293

[9]

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews [J].

Ozelius, LJ ;

Senthil, G ;

Saunders-Pullman, R ;

Ohmann, E ;

Deligtisch, A ;

Tagliati, M ;

Hunt, AL ;

Klein, C ;

Henick, B ;

Hailpern, SM ;

Lipton, RB ;

Soto-Valencia, J ;

Risch, N ;

Bressman, SB .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (04) :424-425

[10]

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease [J].

Paisán-Ruíz, C ;

Jain, S ;

Evans, EW ;

Gilks, WP ;

Simón, J ;

van der Brug, M ;

de Munain, AL ;

Aparicio, S ;

Gil, AM ;

Khan, N ;

Johnson, J ;

Martinez, JR ;

Nicholl, D ;

Carrera, IM ;

Pena, AS ;

de Silva, R ;

Lees, A ;

Martí-Massó, JF ;

Pérez-Tur, J ;

Wood, NW ;

Singleton, AB .

NEURON, 2004, 44 (04) :595-600

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