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Fuchs, J.* ; Mueller, J.C.* ; Lichtner, P. ; Schulte, C.* ; Münz, M.* ; Berg, D.* ; Wüllner, U.* ; Illig, T. ; Sharma, M.* ; Gasser, T.*

The transcription factor PITX3 is associated with sporadic Parkinson's disease.

Neurobiol. Aging 30, 731-738 (2009)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Parkinson's disease (PD) is a progressive neurodegenerative disease with typical motor symptoms due to the preferential loss of midbrain dopaminergic (mDA) neurons in the Substantia nigra pars compacta. Several proteins of the homeodomain family are crucial for the development of mDA neurons. These proteins remain expressed into adulthood with largely unknown functions, but potentially influence mDA neuronal survival. To determine whether genetic variation in these genes plays a role in sporadic PD, we performed a genetic association study in a screening sample of 340 PD patients and 680 controls and a large replication sample of 669 PD patients and 669 controls using 54 single nucleotide polymorphisms in and around the Engrailed 1/2, PITX3, LMX1B and OTX2 genes. We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549: C > T (p = 0.004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%. An allele-dependent dysregulation of PITX3 expression might contribute to the susceptibility to PD.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Parkinson's disease; PITX3; Homeoproteins; SNPs; Midbrain dopaminergic neurons; Association study; Neuronal development; mesencephalic dopaminergic-neurons; alpha-synuclein; aphakia mice; brain expression; ventral midbrain; engrailed genes; homeobox gene; nurr1; mutation; differentiation
ISSN (print) / ISBN 0197-4580
e-ISSN 1558-1497
Zeitschrift Neurobiology of Aging
Quellenangaben Band: 30, Heft: 5, Seiten: 731-738 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort New York, NY [u.a.]
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)