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Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia

BPD_28D (O(2) dependency at 28 days of life) and BPD_36W (O(2) dependency at 36 wks post-menstrual age) are diseases of prematurely born infants exposed to mechanical ventilation and/or oxygen supplementation. In order to determine whether genetic variants of surfactant proteins (SPs-A, B, C, and D)...

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Autores principales: Pavlovic, J., Papagaroufalis, C., Xanthou, M., Liu, W., Fan, R., Thomas, N. J., Apostolidou, I., Papathoma, E., Megaloyianni, E., DiAngelo, S., Floros, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850613/
https://www.ncbi.nlm.nih.gov/pubmed/17264398
http://dx.doi.org/10.1155/2006/817805
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author Pavlovic, J.
Papagaroufalis, C.
Xanthou, M.
Liu, W.
Fan, R.
Thomas, N. J.
Apostolidou, I.
Papathoma, E.
Megaloyianni, E.
DiAngelo, S.
Floros, J.
author_facet Pavlovic, J.
Papagaroufalis, C.
Xanthou, M.
Liu, W.
Fan, R.
Thomas, N. J.
Apostolidou, I.
Papathoma, E.
Megaloyianni, E.
DiAngelo, S.
Floros, J.
author_sort Pavlovic, J.
collection PubMed
description BPD_28D (O(2) dependency at 28 days of life) and BPD_36W (O(2) dependency at 36 wks post-menstrual age) are diseases of prematurely born infants exposed to mechanical ventilation and/or oxygen supplementation. In order to determine whether genetic variants of surfactant proteins (SPs-A, B, C, and D) and SP-B-linked microsatellite markers are risk factors in BPD, we performed a family based association study using a Greek study group of 71 neonates (<30 wks gestational age) from 60 families with, 52 BPD_28D and 19 BPD_36W, affected infants. Genotyping was performed using newly designed pyrosequencing assays and previously published methods. Associations between genetic variants of SPs and BPD subgroups were determined using Transmission Disequilibrium Test (TDT) and Family Based Association Test (FBAT). Significant associations (p ≤ 0.01) were observed for alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B. Specifically, allele B-18_C associated with susceptibility in BPD_36W. Microsatellite marker AAGG_6 associated with susceptibility in BPD_28D/36W group. Haplotype analysis revealed ten susceptibility and one protective haplotypes for SP-B and SP-B-linked microsatellite markers and two SP-A-SP-D protective haplotypes. The data indicate that SP loci are linked to BPD. Studies in different study groups and/or of larger sample size are warranted to confirm these observations and delineate genetic background of BPD subgroups.
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spelling pubmed-38506132013-12-18 Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia Pavlovic, J. Papagaroufalis, C. Xanthou, M. Liu, W. Fan, R. Thomas, N. J. Apostolidou, I. Papathoma, E. Megaloyianni, E. DiAngelo, S. Floros, J. Dis Markers Other BPD_28D (O(2) dependency at 28 days of life) and BPD_36W (O(2) dependency at 36 wks post-menstrual age) are diseases of prematurely born infants exposed to mechanical ventilation and/or oxygen supplementation. In order to determine whether genetic variants of surfactant proteins (SPs-A, B, C, and D) and SP-B-linked microsatellite markers are risk factors in BPD, we performed a family based association study using a Greek study group of 71 neonates (<30 wks gestational age) from 60 families with, 52 BPD_28D and 19 BPD_36W, affected infants. Genotyping was performed using newly designed pyrosequencing assays and previously published methods. Associations between genetic variants of SPs and BPD subgroups were determined using Transmission Disequilibrium Test (TDT) and Family Based Association Test (FBAT). Significant associations (p ≤ 0.01) were observed for alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B. Specifically, allele B-18_C associated with susceptibility in BPD_36W. Microsatellite marker AAGG_6 associated with susceptibility in BPD_28D/36W group. Haplotype analysis revealed ten susceptibility and one protective haplotypes for SP-B and SP-B-linked microsatellite markers and two SP-A-SP-D protective haplotypes. The data indicate that SP loci are linked to BPD. Studies in different study groups and/or of larger sample size are warranted to confirm these observations and delineate genetic background of BPD subgroups. IOS Press 2006 2007-01-26 /pmc/articles/PMC3850613/ /pubmed/17264398 http://dx.doi.org/10.1155/2006/817805 Text en Copyright © 2006 Hindawi Publishing Corporation.
spellingShingle Other
Pavlovic, J.
Papagaroufalis, C.
Xanthou, M.
Liu, W.
Fan, R.
Thomas, N. J.
Apostolidou, I.
Papathoma, E.
Megaloyianni, E.
DiAngelo, S.
Floros, J.
Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia
title Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia
title_full Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia
title_fullStr Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia
title_full_unstemmed Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia
title_short Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia
title_sort genetic variants of surfactant proteins a, b, c, and d in bronchopulmonary dysplasia
topic Other
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850613/
https://www.ncbi.nlm.nih.gov/pubmed/17264398
http://dx.doi.org/10.1155/2006/817805
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