Title
Population genetics of PDE4B (phosphodiesterase-4B) in neglected Native Americans: Implications for cancer pharmacogenetics
Date Issued
01 June 2022
Access level
open access
Resource Type
journal article
Author(s)
Moreira R.G.
Saraiva-Duarte J.M.
Pereira A.C.
Sosa-Macias M.
Galaviz-Hernandez C.
Magalhães W.C.S.
Zolini C.
Leal T.P.
Balázs Z.
Llerena A.
Mill J.G.
O’Connor T.D.
Rodrigues-Soares F.
Universidade Federal de Minas Gerais
Universidade Federal de Minas Gerais
Publisher(s)
John Wiley and Sons Inc.
Abstract
PDE4B (phosphodiesterase-4B) has an important role in cancer and in pharmacology of some disorders, such as inflammatory diseases. Remarkably in Native Americans, PDE4B variants are associated with acute lymphoblastic leukemia (ALL) relapse, as this gene modulates sensitivity of glucocorticoids used in ALL chemotherapy. PDE4B allele rs6683977.G, associated with genomic regions of Native American origin in US-Hispanics (admixed among Native Americans, Europeans, and Africans), increases ALL relapse risk, contributing to an association between Native American ancestry and ALL relapse that disappeared with an extra-phase of chemotherapy. This result insinuates that indigenous populations along the Americas may have high frequencies of rs6683977.G, but this has never been corroborated. We studied ancestry and PDE4B diversity in 951 healthy individuals from nine Latin American populations. In non-admixed Native American populations rs6683977.G has frequencies greater than 90%, is in linkage disequilibrium with other ALL relapse associated and regulatory variants in PDE4B-intron-7, conforming haplotypes showing their highest worldwide frequencies in Native Americans (>0.82). Our findings inform the discussion on the pertinence of an extra-phase of chemotherapy in Native American populations, and exemplifies how knowledge generated in US-Hispanics is relevant for their even more neglected and vulnerable Native American ancestors along the American continent.
Start page
1400
End page
1405
Volume
15
Issue
6
Language
English
OCDE Knowledge area
Genética humana
Oncología
Scopus EID
2-s2.0-85127256971
PubMed ID
Source
Clinical and Translational Science
ISSN of the container
1752-8054
Sources of information:
Directorio de Producción Científica
Scopus