Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome

Neal J. Thomas, Ruzong Fan, Susan DiAngelo, Joseph C. Hess, Joanna Floros

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Aims: Polymorphisms of genes are transmitted together in haplotypes, which can be used in the study of the development of complex diseases such as respiratory distress syndrome (RDS). The surfactant proteins (SPs) play important roles in lung function, and genetic variants of these proteins have been linked with lung diseases, including RDS. To determine whether haplotypes of SP-A and SP-D are transmitted disproportionately from parents to offspring with RDS, we hypothesized that previously unstudied genetic haplotypes of these SP genes are associated with the development of RDS. Methods: DNA was collected from 132 families of neonates with RDS. Genotyping was performed, and haplotype transmission from parent to offspring was determined by transmission disequilibrium test. Results: The two-marker SP-D/SP-A haplotype DA160_A/SP-A2 1A1 is protective against the development of RDS (p = 0.035). Four three- and four-marker haplotypes containing one or both loci from the significant two-marker haplotype are also protective against the development of RDS. Conclusions: These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS. Study of haplotypes in complex diseases with both genetic and environmental risk factors may lead to better understanding of these types of diseases.

Original languageEnglish (US)
Pages (from-to)985-989
Number of pages5
JournalActa Paediatrica, International Journal of Paediatrics
Volume96
Issue number7
DOIs
StatePublished - Jul 1 2007

Fingerprint

Pulmonary Surfactant-Associated Protein D
Haplotypes
Surface-Active Agents
Pulmonary Surfactant-Associated Protein A
Proteins
varespladib methyl
Lung Diseases
Parents
Newborn Infant

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

@article{d31d41311d2f4bcaa4d5cfaca112070d,
title = "Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome",
abstract = "Aims: Polymorphisms of genes are transmitted together in haplotypes, which can be used in the study of the development of complex diseases such as respiratory distress syndrome (RDS). The surfactant proteins (SPs) play important roles in lung function, and genetic variants of these proteins have been linked with lung diseases, including RDS. To determine whether haplotypes of SP-A and SP-D are transmitted disproportionately from parents to offspring with RDS, we hypothesized that previously unstudied genetic haplotypes of these SP genes are associated with the development of RDS. Methods: DNA was collected from 132 families of neonates with RDS. Genotyping was performed, and haplotype transmission from parent to offspring was determined by transmission disequilibrium test. Results: The two-marker SP-D/SP-A haplotype DA160_A/SP-A2 1A1 is protective against the development of RDS (p = 0.035). Four three- and four-marker haplotypes containing one or both loci from the significant two-marker haplotype are also protective against the development of RDS. Conclusions: These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS. Study of haplotypes in complex diseases with both genetic and environmental risk factors may lead to better understanding of these types of diseases.",
author = "Thomas, {Neal J.} and Ruzong Fan and Susan DiAngelo and Hess, {Joseph C.} and Joanna Floros",
year = "2007",
month = "7",
day = "1",
doi = "10.1111/j.1651-2227.2007.00319.x",
language = "English (US)",
volume = "96",
pages = "985--989",
journal = "Acta Paediatrica, International Journal of Paediatrics",
issn = "0803-5253",
publisher = "Wiley-Blackwell",
number = "7",

}

Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome. / Thomas, Neal J.; Fan, Ruzong; DiAngelo, Susan; Hess, Joseph C.; Floros, Joanna.

In: Acta Paediatrica, International Journal of Paediatrics, Vol. 96, No. 7, 01.07.2007, p. 985-989.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome

AU - Thomas, Neal J.

AU - Fan, Ruzong

AU - DiAngelo, Susan

AU - Hess, Joseph C.

AU - Floros, Joanna

PY - 2007/7/1

Y1 - 2007/7/1

N2 - Aims: Polymorphisms of genes are transmitted together in haplotypes, which can be used in the study of the development of complex diseases such as respiratory distress syndrome (RDS). The surfactant proteins (SPs) play important roles in lung function, and genetic variants of these proteins have been linked with lung diseases, including RDS. To determine whether haplotypes of SP-A and SP-D are transmitted disproportionately from parents to offspring with RDS, we hypothesized that previously unstudied genetic haplotypes of these SP genes are associated with the development of RDS. Methods: DNA was collected from 132 families of neonates with RDS. Genotyping was performed, and haplotype transmission from parent to offspring was determined by transmission disequilibrium test. Results: The two-marker SP-D/SP-A haplotype DA160_A/SP-A2 1A1 is protective against the development of RDS (p = 0.035). Four three- and four-marker haplotypes containing one or both loci from the significant two-marker haplotype are also protective against the development of RDS. Conclusions: These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS. Study of haplotypes in complex diseases with both genetic and environmental risk factors may lead to better understanding of these types of diseases.

AB - Aims: Polymorphisms of genes are transmitted together in haplotypes, which can be used in the study of the development of complex diseases such as respiratory distress syndrome (RDS). The surfactant proteins (SPs) play important roles in lung function, and genetic variants of these proteins have been linked with lung diseases, including RDS. To determine whether haplotypes of SP-A and SP-D are transmitted disproportionately from parents to offspring with RDS, we hypothesized that previously unstudied genetic haplotypes of these SP genes are associated with the development of RDS. Methods: DNA was collected from 132 families of neonates with RDS. Genotyping was performed, and haplotype transmission from parent to offspring was determined by transmission disequilibrium test. Results: The two-marker SP-D/SP-A haplotype DA160_A/SP-A2 1A1 is protective against the development of RDS (p = 0.035). Four three- and four-marker haplotypes containing one or both loci from the significant two-marker haplotype are also protective against the development of RDS. Conclusions: These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS. Study of haplotypes in complex diseases with both genetic and environmental risk factors may lead to better understanding of these types of diseases.

UR - http://www.scopus.com/inward/record.url?scp=34250682506&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34250682506&partnerID=8YFLogxK

U2 - 10.1111/j.1651-2227.2007.00319.x

DO - 10.1111/j.1651-2227.2007.00319.x

M3 - Article

C2 - 17524024

AN - SCOPUS:34250682506

VL - 96

SP - 985

EP - 989

JO - Acta Paediatrica, International Journal of Paediatrics

JF - Acta Paediatrica, International Journal of Paediatrics

SN - 0803-5253

IS - 7

ER -