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Sökning: WFRF:(Puschmann Andreas) > (2020-2023) > Insights on Genetic...

  • Brolin, KajsaLund University,Lunds universitet,Translationell Neurogenetik,Forskargrupper vid Lunds universitet,Translational Neurogenetics,Lund University Research Groups (författare)

Insights on Genetic and Environmental Factors in Parkinson's Disease from a Regional Swedish Case-Control Cohort

  • Artikel/kapitelEngelska2022

Förlag, utgivningsår, omfång ...

  • 2022

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:7ec05cd4-5203-4d7f-8bfd-40819a747706
  • https://lup.lub.lu.se/record/7ec05cd4-5203-4d7f-8bfd-40819a747706URI
  • https://doi.org/10.3233/JPD-212818DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • BACKGROUND: Risk factors for Parkinson's disease (PD) can be more or less relevant to a population due to population-specific genetic architecture, local lifestyle habits, and environmental exposures. Therefore, it is essential to study PD at a local, regional, and continental scale in order to increase the knowledge on disease etiology.OBJECTIVE: We aimed to investigate the contribution of genetic and environmental factors to PD in a new Swedish case-control cohort.METHODS: PD patients (n = 929) and matched population-based controls (n = 935) from the southernmost county in Sweden were included in the cohort. Information on environmental exposures was obtained using questionnaires at inclusion. Genetic analyses included a genome-wide association study (GWAS), haplotype assessment, and a risk profile analysis using cumulative genetic risk scores.RESULTS: The cohort is a representative PD case-control cohort (64% men, mean age at diagnosis = 67 years, median Hoehn and Yahr score 2.0), in which previously reported associations between PD and environmental factors, such as tobacco, could be confirmed. We describe the first GWAS of PD solely composed of PD patients from Sweden, and confirm associations to well-established risk alleles in SNCA. In addition, we nominate an unconfirmed and potentially population-specific genome-wide significant association in the PLPP4 locus (rs12771445).CONCLUSION: This work provides an in-depth description of a new PD case-control cohort from southern Sweden, giving insights into environmental and genetic risk factors for PD in the Swedish population.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Bandres-Ciga, SaraNational Institutes of Health, United States (författare)
  • Blauwendraat, CornelisNational Institutes of Health, United States (författare)
  • Widner, HåkanLund University,Lunds universitet,Regeneration in Movement Disorders,Forskargrupper vid Lunds universitet,Lund University Research Groups,Skåne University Hospital(Swepub:lu)mphy-hwi (författare)
  • Odin, PerLund University,Lunds universitet,Restorative Parkinson Unit,Forskargrupper vid Lunds universitet,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-poi (författare)
  • Hansson, OskarLund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)mphy-ohn (författare)
  • Puschmann, AndreasLund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-aps (författare)
  • Swanberg, MariaLund University,Lunds universitet,Translationell Neurogenetik,Forskargrupper vid Lunds universitet,Translational Neurogenetics,Lund University Research Groups(Swepub:lu)med-msr (författare)
  • Translationell NeurogenetikForskargrupper vid Lunds universitet (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Parkinson's Disease12:1, s. 153-1711877-718X

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