Lack of replication of association between GIGYF2 variants and Parkinson disease

被引：48

作者：

Bras, Jose ^{[2
]}

Simon-Sanchez, Javier ^{[3
]}

Federoff, Monica

Morgadinho, Ana ^{[4
]}

Januario, Cristina ^{[4
]}

Ribeiro, Maria ^{[4
]}

Cunha, Luis ^{[4
]}

Oliveira, Catarina ^{[2
,4
]}

Singleton, Andrew B. ^{[1
,5
]}

机构：

[1] NIA, Neurogenet Lab, Intramural Res Program, NIH, Bethesda, MD 20892 USA

[2] Univ Coimbra, Ctr Neurosci & Cell Biol, P-3000 Coimbra, Portugal

[3] CSIC, Inst Biomed Valencia, Dept Genom & Prote, Unidad Genet Mol, Valencia 46010, Spain

[4] Coimbra Univ Hosp, Neurol Serv, P-3000 Coimbra, Portugal

[5] Univ Virginia, Ctr Publ Hlth Genom, Dept Publ Hlth Sci, Charlottesville, VA 22908 USA

来源：

HUMAN MOLECULAR GENETICS | 2009年 / 18卷 / 02期

基金：

美国国家卫生研究院;

关键词：

WHOLE-GENOME ASSOCIATION; MUTATIONS; GENE; LINKAGE; OMI/HTRA2; SAMPLE; PARK11;

D O I：

10.1093/hmg/ddn340

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mutations in GIGYF2 have recently been described as causative of Parkinson's disease in Europeans. In an attempt to replicate these results in independent populations, we sequenced the entire coding region of GIGYF2 in a large series of Portuguese and North American samples. We report the finding of two of the previously published mutations in neurologically normal Control individuals. This suggests that mutations in GIGYF2 are not strongly related to the development of the disease in either of these populations.

引用

页码：341 / 346

页数：6

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