Calbindin 1, fibroblast growth factor 20, and α-synuclein in sporadic Parkinson's disease

被引：46

作者：

Mizuta, Ikuko ^{[1
,2
]}

Tsunoda, Tatsuhiko ^{[3
]}

Satake, Wataru ^{[1
]}

Nakabayashi, Yuko ^{[1
,2
]}

Watanabe, Masahiko ^{[4
]}

Takeda, Atsushi ^{[5
]}

Hasegawa, Kazuko ^{[6
]}

Nakashima, Kenji ^{[7
]}

Yamamoto, Mitsutoshi ^{[8
]}

Hattori, Nobutaka ^{[9
]}

Murata, Miho ^{[10
]}

Toda, Tatsushi ^{[1
,2
]}

机构：

[1] Osaka Univ, Grad Sch Med, Dept Med Genet, Div Clin Genet, Suita, Osaka 5650871, Japan

[2] Japan Sci & Technol Agcy, CREST, Saitama 3320012, Japan

[3] RIKEN, Inst Phys & Chem Res, SNP Res Ctr, Lab Med Informat, Kanagawa 2300045, Japan

[4] Univ Tsukuba, Dept Neurol, Grad Sch Comprehens Human Sci, Tsukuba, Ibaraki 3058575, Japan

[5] Tohoku Univ, Grad Sch Med, Dept Neurosci, Div Neurol, Sendai, Miyagi 9808574, Japan

[6] Sagamihara Natl Hosp, Natl Hosp Organizat, Dept Neurol, Sagamihara, Kanagawa 2288522, Japan

[7] Tottori Univ, Fac Med, Dept Neurol, Yonago, Tottori 6838504, Japan

[8] Kagawa Prefectural Cent Hosp, Dept Neurol, Takamatsu, Kagawa 7608557, Japan

[9] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 1138421, Japan

[10] Musashi Hosp, Dept Neurol, Natl Ctr Neurol & Psychiat, Kodaira, Tokyo 1878551, Japan

来源：

HUMAN GENETICS | 2008年 / 124卷 / 01期

基金：

日本科学技术振兴机构;

关键词：

D O I：

10.1007/s00439-008-0525-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Parkinson's disease (PD), one of the most common human neurodegenerative disorders, is characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. Our recent case- control association study of 268 SNPs in 121 candidate genes identified alpha-synuclein ( SNCA) as a susceptibility gene for sporadic PD (P = 1.7 x 10(-11)). We also replicated the association of fibroblast growth factor 20 ( FGF20) with PD ( P = 0.0089). To find other susceptibility genes, we added 34 SNPs to the previous screen. Of 302 SNPs in a total 137 genes, but excluding SNCA, SNPs in NDUFV2, FGF2, CALB1 and B2M showed significant association ( P < 0.01; 882 cases and 938 control subjects). We replicated the association analysis for these SNPs in a second independent sample set ( 521 cases and 1,003 control subjects). One SNP, rs1805874 in calbindin 1 ( CALB1), showed significance in both analyses ( P = 7.1 x 10(-5); recessive model). When the analysis was stratified relative to the SNCA genotype, the odds ratio of CALB1 tended to increase according to the number of protective alleles in SNCA. In contrast, FGF20 was significant only in the subgroup of SNCA homozygote of risk allele. CALB1 is a calcium-binding protein that widely is expressed in neurons. A relative sparing of

引用

页码：89 / 94

页数：6

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