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Amerindian ancestry influences genetic susceptibility to chronic obstructive pulmonary disease

dc.contributor.authorDíaz-Peña R.
dc.contributor.authorBoekstegers F.
dc.contributor.authorSilva R.S.
dc.contributor.authorJaime S.
dc.contributor.authorHosgood H.D.
dc.contributor.authorIII
dc.contributor.authorMiravitlles M.
dc.contributor.authorAgustí À.
dc.contributor.authorBermejo J.L.
dc.contributor.authorOlloquequi J.
dc.date.accessioned2020-09-02T22:16:51Z
dc.date.available2020-09-02T22:16:51Z
dc.date.issued2020
dc.identifier10.3390/jpm10030093
dc.identifier.citation10, 3, 1-14
dc.identifier.issn20754426
dc.identifier.urihttps://hdl.handle.net/20.500.12728/4356
dc.descriptionThe 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. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
dc.language.isoen
dc.publisherMDPI AG
dc.subjectAncestry
dc.subjectAutoimmunity
dc.subjectChronic obstructive pulmonary disease (COPD)
dc.subjectGenome wide association studies (GWAS)
dc.subjectHispanic paradox
dc.subjectImmune dysfunction
dc.subjectPersonalized medicine
dc.subjectgenomic DNA
dc.subjectaged
dc.subjectAmerican Indian
dc.subjectArticle
dc.subjectbiomass
dc.subjectbody mass
dc.subjectcarbon monoxide diffusing capacity of the lung
dc.subjectChile
dc.subjectchronic obstructive lung disease
dc.subjectclinical assessment
dc.subjectcohort analysis
dc.subjectcontrolled study
dc.subjectdisease predisposition
dc.subjectdyspnea
dc.subjectexercise
dc.subjectfemale
dc.subjectforced expiratory volume
dc.subjectforced vital capacity
dc.subjectgene frequency
dc.subjectgene linkage disequilibrium
dc.subjectgenetic association
dc.subjectgenetic risk
dc.subjectgenetic susceptibility
dc.subjectgenome-wide association study
dc.subjectgenotyping technique
dc.subjecthospitalization
dc.subjecthuman
dc.subjectlung function
dc.subjectlung function test
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmodified medical research council scale
dc.subjectoxygen saturation
dc.subjectprincipal component analysis
dc.subjectpulse oximetry
dc.subjectquality of life
dc.subjectrisk factor
dc.subjectsingle nucleotide polymorphism
dc.subjectsix minute walk test
dc.subjectsmoking
dc.titleAmerindian ancestry influences genetic susceptibility to chronic obstructive pulmonary disease
dc.typeArticle


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