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. 2009 Jan 15;18(2):341-6.
doi: 10.1093/hmg/ddn340. Epub 2008 Oct 15.

Lack of replication of association between GIGYF2 variants and Parkinson disease

Jose Bras  1 , Javier Simón-Sánchez, Monica Federoff, Ana Morgadinho, Cristina Januario, Maria Ribeiro, Luis Cunha, Catarina Oliveira, Andrew B Singleton
Affiliations

Lack of replication of association between GIGYF2 variants and Parkinson disease

Jose Bras et al. Hum Mol Genet. .

Abstract

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.

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Figures

Figure 1.
Figure 1.
GIGIF2 variants described originally as mutations by Lautier et al. and found both in Control and PD samples in our series. The upper sequence in each of the panels (A–C) shows the wild-type sequence; while the lower sequence shows the mutation in heterozygous state. (A) p.N478T variant found in a Control sample from the Portuguese series. (B) p.H1192R variant found in both Cases and Controls from the US series. (C) p.L1230_Q1237del variant found in both Cases and Controls from the US and Portuguese series.
See this image and copyright information in PMC

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