Title
Progress in unraveling the genetic etiology of Parkinson disease in a genomic eraProgress in unraveling the genetic etiology of Parkinson disease in a genomic era
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
Medical Genetics (MEDGEN)
VIB DMG - Neurodegenerative Brain Diseases Group
Publication type
article
Publication
London :Elsevier science london,
Subject
Human medicine
Source (journal)
Trends in genetics. - Amsterdam
Volume/pages
31(2015):3, p. 140-149
ISSN
0168-9525
ISI
000350932300004
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Parkinson disease (PD) and Parkinson-plus syndromes are genetically heterogeneous neurological diseases. Initial studies into the genetic causes of PD relied on classical molecular genetic approaches in well-documented case families. More recently, these approaches have been combined with exome sequencing and together have identified 15 causal genes. Additionally, genome-wide association studies (GWASs) have discovered over 25 genetic risk factors. Elucidation of the genetic architecture of sporadic and familial parkinsonism, however, has lagged behind that of simple Mendelian conditions, suggesting the existence of features confounding genetic data interpretation. Here we discuss the successes and potential pitfalls of gene discovery in PD and related disorders in the post-genomic era. With an estimated 30% of trait variance currently unexplained, tackling current limitations will further expedite gene discovery and lead to increased application of these genetic insights in molecular diagnostics using gene panel and exome sequencing strategies.
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