Amerindian ancestry influences genetic susceptibility to chronic obstructive pulmonary disease

Roberto Díaz-Peña, Felix Boekstegers, Rafael S. Silva, Sergio Jaime, H. Dean Hosgood, Marc Miravitlles, Àlvar Agustí, Justo Lorenzo Bermejo, Jordi Olloquequi

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageEnglish (US)
Article number93
Pages (from-to)1-14
Number of pages14
JournalJournal of Personalized Medicine
Issue number3
StatePublished - Sep 2020


  • Ancestry
  • Autoimmunity
  • Chronic obstructive pulmonary disease (COPD)
  • Genome wide association studies (GWAS)
  • Hispanic paradox
  • Immune dysfunction
  • Personalized medicine

ASJC Scopus subject areas

  • Medicine (miscellaneous)


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