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

被引：101

作者：

Funayama, Manabu

Li, Yuanzhe

Tomiyama, Hiroyuki

Yoshino, Hiroyo

Imamichi, Yoko

Yamamoto, Mitsutoshi

Murata, Miho

Toda, Tatsushi

Mizuno, Yoshikuni

Hattori, Nobutaka

机构：

[1] Juntendo Univ, Sch Med, Dept Neurol, Bunkyo Ku, Tokyo 1138421, Japan

[2] Juntendo Univ, Sch Med, Res Inst Dis Old Age, Bunkyo Ku, Tokyo 1138421, Japan

[3] Kagawa Prefectural Cent Hosp, Dept Neurol, Takamatsu, Kagawa, Japan

[4] Musashi Hosp, Dept Neurol, Natl Ctr Neurol & Psychiat, Tokyo, Japan

[5] Osaka Univ, Div Clin Genet, Dept Med Genet, Grad Sch Med, Suita, Osaka, Japan

来源：

NEUROREPORT | 2007年 / 18卷 / 03期

关键词：

Leucine-Rich Repeat kinase 2; risk factor; single nucleotice polymorphisms;

D O I：

10.1097/WNR.0b013e32801254b6

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

To assess the effect of genetic factors on sporadic Parkinson disease, we performed a case-control study of a variant (G2385R) in Leucine-Rich Repeat kinase 2 among the Japanese population. The G2385R (c.7153G > A) variant was reported as a risk factor for sporadic Parkinson disease in the Chinese population from Taiwan and Singapore. Genotyping was conducted in 448 Parkinson disease patients and 457 healthy controls. The frequency of A allele in Parkinson disease was significantly higher than in the control (P=1.24 x 10(-4), odds ratio 2.63, 95% confidence interval 1.56-4.35). Our results suggest that the G2385R variant is a risk factor for sporadic Parkinson disease in the Asian population.

引用

页码：273 / 275

页数：3

共 25 条

[1] Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism [J].

Bonifati, V ;

Rizzu, P ;

van Baren, MJ ;

Schaap, O ;

Breedveld, GJ ;

Krieger, E ;

Dekker, MCJ ;

Squitieri, F ;

Ibanez, P ;

Joosse, M ;

van Dongen, JW ;

Vanacore, N ;

van Swieten, JC ;

Brice, A ;

Meco, G ;

van Duijn, CM ;

Oostra, BA ;

Heutink, P .

SCIENCE, 2003, 299 (5604) :256-259

[2]

Di Fonzo A, 2005, LANCET, V365, P412

[3] 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

[4] α-synuclein gene haplotypes are associated with Parkinson's disease [J].

Farrer, M ;

Maraganore, DM ;

Lockhart, P ;

Singleton, A ;

Lesnick, TG ;

de Andrade, M ;

West, A ;

de Silva, R ;

Hardy, J ;

Hernandez, D .

HUMAN MOLECULAR GENETICS, 2001, 10 (17) :1847-1851

[5] Common LRRK2 mutation in idiopathic Parkinson's disease [J].

Gilks, WP ;

Abou-Sleiman, PM ;

Gandhi, S ;

Jain, S ;

Singleton, A ;

Lees, AJ ;

Shaw, K ;

Bhatia, KP ;

Bonifati, V ;

Quinn, NP ;

Lynch, J ;

Healy, DG ;

Holton, JL ;

Revesz, T ;

Wood, NW .

LANCET, 2005, 365 (9457) :415-416

[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] Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].

Kitada, T ;

Asakawa, S ;

Hattori, N ;

Matsumine, H ;

Yamamura, Y ;

Minoshima, S ;

Yokochi, M ;

Mizuno, Y ;

Shimizu, N .

NATURE, 1998, 392 (6676) :605-608

[8] The ubiquitin pathway in Parkinson's disease [J].

Leroy, E ;

Boyer, R ;

Auburger, G ;

Leube, B ;

Ulm, G ;

Mezey, E ;

Harta, G ;

Brownstein, MJ ;

Jonnalagada, S ;

Chernova, T ;

Dehejia, A ;

Lavedan, C ;

Gasser, T ;

Steinbach, PJ ;

Wilkinson, KD ;

Polymeropoulos, MH .

NATURE, 1998, 395 (6701) :451-452

[9] LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs [J].

Lesage, S ;

Dürr, A ;

Tazir, M ;

Lohmann, E ;

Leutenegger, AL ;

Janin, S ;

Pollak, P ;

Brice, A .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (04) :422-423

[10] High-resolution whole-genome association study of Parkinson disease [J].

Maraganore, DM ;

de Andrade, M ;

Lesnick, TG ;

Strain, KJ ;

Farrer, MJ ;

Rocca, WA ;

Pant, PVK ;

Frazer, KA ;

Cox, DR ;

Ballinger, DG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (05) :685-693

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