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

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dc.contributor.authorHosgood, H. Dean, III
dc.contributor.authorDiaz Pena, Roberto
dc.contributor.authorBlansky, Deanna
dc.contributor.authorJaime, Sergio
dc.contributor.authorParra, Viviana
dc.contributor.authorBoekstegers, Felix
dc.contributor.authorBermejo, Justo Lorenzo
dc.contributor.authorGarcia Valero, Jose
dc.contributor.authorMontes, Juan F.
dc.contributor.authorValdivia, Gonzalo
dc.contributor.authorMiravitlles, Marc
dc.contributor.authorAgusti, Alvar
dc.contributor.authorSilva, Rafael S.
dc.contributor.authorOlloquequi, Jordi
dc.date.accessioned2024-01-10T14:22:36Z
dc.date.available2024-01-10T14:22:36Z
dc.date.issued2020
dc.description.abstractBackground: 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 similar to 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 x 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.
dc.description.funderChilean National Science and Technology Fund (CONICYT), FONDECYT
dc.description.funderNIH/National Center for Advancing Translational Science (NCATS) Einstein-Montefiore CTSA
dc.fechaingreso.objetodigital2024-05-16
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1159/000506649
dc.identifier.eissn1423-0356
dc.identifier.issn0025-7931
dc.identifier.pubmedidMEDLINE:32222710
dc.identifier.urihttps://doi.org/10.1159/000506649
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79968
dc.identifier.wosidWOS:000538139400005
dc.information.autorucFacultad de Medicina; Valdivia Cabrera, Gonzalo Sergio; S/I; 57007
dc.issue.numero4
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final315
dc.pagina.inicio307
dc.publisherKARGER
dc.revistaRESPIRATION
dc.rightsacceso restringido
dc.subjectBiomass
dc.subjectChronic obstructive pulmonary disease
dc.subjectGenetics
dc.subjectGenome-wide association study
dc.subjectSNP
dc.subjectGENOME-WIDE ASSOCIATION
dc.subjectDNA METHYLATION
dc.subjectSMOKE
dc.subjectCOPD
dc.subjectASTHMA
dc.subjectGENES
dc.subjectWOOD
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePRDM15 Is Associated with Risk of Chronic Obstructive Pulmonary Disease in a Rural Population in Chile
dc.typeartículo
dc.volumen99
sipa.codpersvinculados57007
sipa.indexWOS
sipa.indexPubmed
sipa.trazabilidadCarga SIPA;09-01-2024
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