Variation in GIGYF2 is not associated with Parkinson disease

W. C. Nichols, D. K. Kissell, N. Pankratz, M. W. Pauciulo, V. E. Elsaesser, K. A. Clark, C. A. Halter, A. Rudolph, J. Wojcieszek, Ronald Pfeiffer, T. Foroud

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Abstract

OBJECTIVE:: A recent study reported that mutations in a gene on chromosome 2q36-37, GIGYF2, result in Parkinson disease (PD). We have previously reported linkage to this chromosomal region in a sample of multiplex PD families, with the strongest evidence of linkage obtained using the subset of the sample having the strongest family history of disease and meeting the strictest diagnostic criteria. We have tested whether mutations in GIGYF2 may account for the previously observed linkage finding. METHODS:: We sequenced the GIGYF2 coding region in 96 unrelated patients with PD used in our original study that contributed to the chromosome 2q36-37 linkage signal. Subsequently, we genotyped the entire sample of 566 multiplex PD kindreds as well as 1,447 controls to test whether variants in GIGYF2 are causative or increase susceptibility for PD. RESULTS:: We detected three novel variants as well as one of the previously reported seven variants in a total of five multiple PD families; however, there was no consistent evidence that these variants segregated with PD in these families. We also did not find a significant increase in risk for PD among those inheriting variants in GIGYF2 (p = 0.28). CONCLUSIONS:: We believe that variation in a gene other than GIGYF2 accounts for the previously reported linkage finding on chromosome 2q36-37.

Original languageEnglish (US)
Pages (from-to)1886-1892
Number of pages7
JournalNeurology
Volume72
Issue number22
DOIs
StatePublished - Jun 2 2009
Externally publishedYes

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Parkinson Disease
Chromosomes
Mutation
Genes

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Nichols, W. C., Kissell, D. K., Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Clark, K. A., ... Foroud, T. (2009). Variation in GIGYF2 is not associated with Parkinson disease. Neurology, 72(22), 1886-1892. https://doi.org/10.1212/01.wnl.0000346517.98982.1b

Variation in GIGYF2 is not associated with Parkinson disease. / Nichols, W. C.; Kissell, D. K.; Pankratz, N.; Pauciulo, M. W.; Elsaesser, V. E.; Clark, K. A.; Halter, C. A.; Rudolph, A.; Wojcieszek, J.; Pfeiffer, Ronald; Foroud, T.

In: Neurology, Vol. 72, No. 22, 02.06.2009, p. 1886-1892.

Research output: Contribution to journalArticle

Nichols, WC, Kissell, DK, Pankratz, N, Pauciulo, MW, Elsaesser, VE, Clark, KA, Halter, CA, Rudolph, A, Wojcieszek, J, Pfeiffer, R & Foroud, T 2009, 'Variation in GIGYF2 is not associated with Parkinson disease', Neurology, vol. 72, no. 22, pp. 1886-1892. https://doi.org/10.1212/01.wnl.0000346517.98982.1b
Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA et al. Variation in GIGYF2 is not associated with Parkinson disease. Neurology. 2009 Jun 2;72(22):1886-1892. https://doi.org/10.1212/01.wnl.0000346517.98982.1b
Nichols, W. C. ; Kissell, D. K. ; Pankratz, N. ; Pauciulo, M. W. ; Elsaesser, V. E. ; Clark, K. A. ; Halter, C. A. ; Rudolph, A. ; Wojcieszek, J. ; Pfeiffer, Ronald ; Foroud, T. / Variation in GIGYF2 is not associated with Parkinson disease. In: Neurology. 2009 ; Vol. 72, No. 22. pp. 1886-1892.
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