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PRDM15 Is Associated with Risk of Chronic Obstructive Pulmonary Disease in a Rural Population in Chile

dc.contributor.authorDean Hosgood H.
dc.contributor.authorIII
dc.contributor.authorDíaz-Peña R.
dc.contributor.authorBlansky D.
dc.contributor.authorJaime S.
dc.contributor.authorParra V.
dc.contributor.authorBoekstegers F.
dc.contributor.authorBermejo J.L.
dc.contributor.authorGarcía-Valero J.
dc.contributor.authorMontes J.F.
dc.contributor.authorValdivia G.
dc.contributor.authorMiravitlles M.
dc.contributor.authorAgustí A.
dc.contributor.authorSilva R.S.
dc.contributor.authorOlloquequi J.
dc.date.accessioned2020-09-02T22:16:11Z
dc.date.available2020-09-02T22:16:11Z
dc.date.issued2020
dc.identifier10.1159/000506649
dc.identifier.citation99, 4, 307-315
dc.identifier.issn00257931
dc.identifier.urihttps://hdl.handle.net/20.500.12728/4233
dc.descriptionBackground: Genome-wide association studies (GWAS) have accelerated our understanding of the genetic underpinnings of chronic obstructive pulmonary disease (COPD); however, GWAS populations have typically consisted of European descent, with ∼1% of Latin American ancestry. Objective: To overcome this limitation, we conducted a GWAS in a rural Chilean population with increased COPD risk to investigate genetic variation of COPD risk in this understudied minority population. Method: We carried out a case-control study of 214 COPD patients (defined by the GOLD criteria) and 193 healthy controls in Talca, Chile. DNA was extracted from venous blood and genotyped on the Illumina Global Screening Array (n = 754,159 markers). After exclusion based on Hardy-Weinberg equilibrium (p ≤ 0.001), call rates (<95%), and minor allele frequencies (<0.5%) in controls, 455,564 markers were available for logistic regression. Results: PRDM15 rs1054761 C allele (p = 2.22 × 10-7) was associated with decreased COPD risk. Three PRDM15 SNPs located on chromosome 21 were significantly associated with COPD risk (p < 10-6). Two of these SNPs, rs1054761 and rs4075967, were located on a noncoding transcript variant region of the gene. Conclusion: PRDM15 overexpression may play a role in the B-cell dysregulation in COPD pathogenesis. To the best of our knowledge, the association between PRDM15 and COPD risk was not previously found in GWAS studies in largely European populations, highlighting the importance of investigating novel variants associated with COPD risk among ethnically diverse populations. © 2019 S. Karger AG, Basel. Copyright: All rights reserved.
dc.language.isoen
dc.publisherS. Karger AG
dc.subjectBiomass
dc.subjectChronic obstructive pulmonary disease
dc.subjectGenetics
dc.subjectGenome-wide association study
dc.subjectSNP
dc.subjectDNA
dc.subjectaged
dc.subjectArticle
dc.subjectcase control study
dc.subjectChile
dc.subjectChilean
dc.subjectchromosome 21
dc.subjectchronic obstructive lung disease
dc.subjectcontrolled study
dc.subjectDNA extraction
dc.subjectfemale
dc.subjectgene
dc.subjectgene frequency
dc.subjectgene overexpression
dc.subjectgenetic association
dc.subjectgenetic risk
dc.subjectgenetic variation
dc.subjectgenome-wide association study
dc.subjectgenotype
dc.subjecthuman
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectpathogenesis
dc.subjectPRDM15 gene
dc.subjectpriority journal
dc.subjectrural population
dc.subjectsingle nucleotide polymorphism
dc.titlePRDM15 Is Associated with Risk of Chronic Obstructive Pulmonary Disease in a Rural Population in Chile
dc.typeArticle


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