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Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations
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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565985/ https://www.ncbi.nlm.nih.gov/pubmed/32899814 http://dx.doi.org/10.3390/genes11091047 |
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author | Fonseca, Héllen da Silva, Thiago M. Saraiva, Mariana Santolalla, Meddly L. Sant’Anna, Hanaisa P. Araujo, Nathalia M. Lima, Natália P. Rios, Raimon Tarazona-Santos, Eduardo Horta, Bernardo L Cruz, Alvaro Barreto, Mauricio L. Figueiredo, Camila A. |
author_facet | Fonseca, Héllen da Silva, Thiago M. Saraiva, Mariana Santolalla, Meddly L. Sant’Anna, Hanaisa P. Araujo, Nathalia M. Lima, Natália P. Rios, Raimon Tarazona-Santos, Eduardo Horta, Bernardo L Cruz, Alvaro Barreto, Mauricio L. Figueiredo, Camila A. |
author_sort | Fonseca, Héllen |
collection | PubMed |
description | 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 (FEV(1))/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 FEV(1)/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. |
format | Online Article Text |
id | pubmed-7565985 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-75659852020-10-26 Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations Fonseca, Héllen da Silva, Thiago M. Saraiva, Mariana Santolalla, Meddly L. Sant’Anna, Hanaisa P. Araujo, Nathalia M. Lima, Natália P. Rios, Raimon Tarazona-Santos, Eduardo Horta, Bernardo L Cruz, Alvaro Barreto, Mauricio L. Figueiredo, Camila A. Genes (Basel) Article 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 (FEV(1))/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 FEV(1)/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. MDPI 2020-09-04 /pmc/articles/PMC7565985/ /pubmed/32899814 http://dx.doi.org/10.3390/genes11091047 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Fonseca, Héllen da Silva, Thiago M. Saraiva, Mariana Santolalla, Meddly L. Sant’Anna, Hanaisa P. Araujo, Nathalia M. Lima, Natália P. Rios, Raimon Tarazona-Santos, Eduardo Horta, Bernardo L Cruz, Alvaro Barreto, Mauricio L. Figueiredo, Camila A. Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations |
title | Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations |
title_full | Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations |
title_fullStr | Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations |
title_full_unstemmed | Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations |
title_short | Genomic Regions 10q22.2, 17q21.31, and 2p23.1 Can Contribute to a Lower Lung Function in African Descent Populations |
title_sort | genomic regions 10q22.2, 17q21.31, and 2p23.1 can contribute to a lower lung function in african descent populations |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565985/ https://www.ncbi.nlm.nih.gov/pubmed/32899814 http://dx.doi.org/10.3390/genes11091047 |
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