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Verfasst von:Díaz-Peña, Roberto [VerfasserIn]   i
 Boekstegers, Felix [VerfasserIn]   i
 Silva, Rafael S. [VerfasserIn]   i
 Jaime, Sergio [VerfasserIn]   i
 Hosgood, H. Dean [VerfasserIn]   i
 Miravitlles, Marc [VerfasserIn]   i
 Agustí, Àlvar [VerfasserIn]   i
 Lorenzo Bermejo, Justo [VerfasserIn]   i
 Olloquequi, Jordi [VerfasserIn]   i
Titel:Amerindian ancestry influences genetic susceptibility to chronic obstructive pulmonary disease
Verf.angabe:Roberto Díaz-Peña, Felix Boekstegers, Rafael S. Silva, Sergio Jaime, H. Dean Hosgood, Marc Miravitlles, Àlvar Agustí, Justo Lorenzo Bermejo and Jordi Olloquequi
E-Jahr:2020
Jahr:18 August 2020
Umfang:13 S.
Fussnoten:Gesehen am 17.12.2020
Titel Quelle:Enthalten in: Journal of Personalized Medicine
Ort Quelle:Basel : MDPI, 2011
Jahr Quelle:2020
Band/Heft Quelle:10(2020,3) Artikel-Nummer 93, 13 Seiten
ISSN Quelle:2075-4426
Abstract:The contribution of genetic ancestry on chronic obstructive pulmonary disease (COPD) predisposition remains unclear. To explore this relationship, we analyzed the associations between 754,159 single nucleotide polymorphisms (SNPs) and risk of COPD (n = 214 cases, 193 healthy controls) in Talca, Chile, considering the genetic ancestry and established risk factors. The proportion of Mapuche ancestry (PMA) was based on a panel of 45 Mapuche reference individuals. Five PRDM15 SNPs and two PPP1R12B SNPs were associate with COPD risk (p = 0.05 to 5 × 10−4) in those individuals with lower PMA. Based on linkage disequilibrium and sliding window analyses, an adjacent PRDM15 SNPs were associated with COPD risk in the lower PMA group (p = 10−3 to 3.77 × 10−8). Our study is the first to report an association between PPP1R12B and COPD risk, as well as effect modification between ethnicity and PRDM15 SNPs in determining COPD risk. Our results are biologically plausible given that PPP1R12B and PRDM15 are involved in immune dysfunction and autoimmunity, providing mechanistic evidence for COPD pathogenesis and highlighting the importance to conduct more genome wide association studies (GWAS) in admixed populations with Amerindian descent.
DOI:doi:10.3390/jpm10030093
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.3390/jpm10030093
 Volltext: https://www.mdpi.com/2075-4426/10/3/93
 DOI: https://doi.org/10.3390/jpm10030093
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:ancestry
 autoimmunity
 chronic obstructive pulmonary disease (COPD)
 genome wide association studies (GWAS)
 Hispanic paradox
 immune dysfunction
 personalized medicine
K10plus-PPN:1743130007
Verknüpfungen:→ Zeitschrift

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