Title
Genomic regions 10q22.2, 17q21.31, and 2p23.1 can contribute to a lower lung function in African descent populations
Date Issued
01 September 2020
Access level
open access
Resource Type
journal article
Author(s)
Fonseca H.
da Silva T.M.
Saraiva M.
Sant’anna H.P.
Araujo N.M.
Lima N.P.
Rios R.
Horta B.L.
Cruz A.
Barreto M.L.
Figueiredo C.A.
Universidade Federal de Minas Gerais
Universidade Federal de Minas Gerais
Publisher(s)
MDPI AG
Abstract
Accumulated evidence supports the contribution of genetic factors in modulating airway function, especially ancestry. We investigated whether genetic polymorphisms can affect lung function in a mixed Brazilian child population using the admixture mapping strategy through RFMix software version 1.5.4 (Stanford University, Stanford, CA, USA), followed by fine mapping, to identify regions whereby local African or European ancestry is associated with lung function measured by the forced expiratory volume in the first second (FEV1)/forced vital capacity (FVC) ratio, an indicator of airway obstruction. The research cohort included 958 individuals aged 4 to 11 years enrolled in the SCAALA (Social Change, Asthma, Allergy in Latin America) Program. We identified that African ancestry at 17q21.31, 10q22.2, and 2p23.1 regions was associated with lower lung function measured by FEV1 /FVC p < 1.9 × 10−4 . In contrast, European ancestry at 17q21.31 showed an opposite effect. Fine mapping pointed out 5 single nucleotide polymorphisms (SNPs) also associated in our replication cohort (rs10999948, rs373831475, rs8068257, rs6744555, and rs1520322). Our results suggest that genomic regions associated with ancestry may contribute to differences in lung function measurements in African American children in Brazil replicated in a cohort of Brazilian adults. The analysis strategy used in this work is especially important for phenotypes, such as lung function, which has considerable disparities in terms of measurements across different populations.
Start page
1
End page
15
Volume
11
Issue
9
Language
English
OCDE Knowledge area
Genética, Herencia
Subjects
Scopus EID
2-s2.0-85090696298
PubMed ID
Source
Genes
ISSN of the container
20734425
Sponsor(s)
Funding: This study was conducted through the SCAALA (Social change, Asthma and Allergy in Latin America) initiative, funded by the Wellcome Trust, Grant No. 072405/Z/03/Z. It was also supported by the Brazilian Ministry of Health (Department of Science and Technology from the Secretaria de Ciência, Tecnologia e Insumos Estratégicos) through Financiadora de Estudos e Projetos, Fundação de Amparo a Pesquisa do Estado da Bahia (FAPESB)/CNPq grant nos. PRONEX-PNX00001/2014 AND PRONEM-PNE0003/2014 and Coordnação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)–Finance code 001.
Sources of information:
Directorio de Producción Científica
Scopus