Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population

Monica Diez-Fairen, Bruno A. Benitez, Sara Ortega-Cubero, Oswaldo Lorenzo-Betancor, Carlos Cruchaga, Elena Lorenzo, Lluis Samaranch, Maria Carcel, Jose A. Obeso, Maria Cruz Rodriguez-Oroz, Miquel Aguilar, Francisco Coria, Maria A. Pastor, Pau Pastor

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Eighteen loci and several susceptibility genes have been related to Parkinson's disease (PD). However, most studies focus on single genes in small PD series. Our aim was to establish the genetic background of a large Spanish PD sample. Pooled-DNA target sequencing of 7 major PD genes (SNCA, PARK2, PINK1, DJ-1, LRRK2, GBA, and MAPT) was performed in 562 PD cases. Forty-four variants were found among 114 individuals (20.28%, p<0.05). Among these variants, 30 were found in Mendelian genes (68.18%) and 14 in PD susceptibility genes (31.82%). Seven novel variants were identified. Interestingly, most variants were found in PARK2 and PINK1 genes, whereas SNCA and DJ-1 variants were rare. Validated variants were also genotyped in Spanish healthy controls (n = 597). Carriers of heterozygous PARK2 variants presented earlier disease onset and showed dementia more frequently. PD subjects carrying 2 variants at different genes (1.42%) had an earlier age of onset and a predominantly akinetic-rigid PD phenotype (55.6%, p < 0.05), suggesting that the accumulation of genetic risk variants could modify PD phenotype.

Original languageEnglish
Pages (from-to)325.e1-325.e5
JournalNeurobiology of Aging
StatePublished - Oct 2018


  • GBA
  • LRRK2
  • MAPT
  • PARK2
  • PINK1


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