Polymorphisms of the gene encoding Kit ligand are associated with bronchopulmonary dysplasia

Gen-BPD Study Group

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Bronchopulmonary dysplasia (BPD) is a chronic inflammatory lung disease that affects infants born preterm. Family studies indicate that BPD has a significant genetic component. Rationale: We assessed the gene encoding Kit ligand ( KITLG) as a candidate for genetic predisposition to moderate-to-severe BPD (controls were infants with no or mild BPD). Study design: Eight KITLG-tagging single nucleotide polymorphisms (SNPs) were analyzed in cohorts of very preterm infants originating from northern Finland (56 cases and 197 controls), southern Finland (n = 59 + 52), and Canada (n = 58 + 68). Additional replication populations included infants born in Finland (n = 41 + 241) and Hungary (n = 29 + 40). All infants were of European origin. Results were controlled for risk factors of BPD. Kit ligand concentration in umbilical cord blood, collected from very preterm infants (n = 120), was studied. Results: Six SNPs of KITLG and a haplotype including all eight genotyped SNPs were associated with moderate-to-severe BPD in the northern Finnish population. When all the populations were combined, SNP rs11104948 was significantly associated with BPD. Kit ligand concentration in umbilical cord blood of infants born very preterm was an independent risk factor of BPD. Conclusions: We show that KITLG polymorphisms are associated with susceptibility to moderate-to-severe BPD. In addition, higher Kit ligand concentrations were observed in infants that subsequently developed BPD. These results support the possibility that KITLG gene is involved in predisposition to BPD.

Original languageEnglish
Pages (from-to)260-270
Number of pages11
JournalPediatric Pulmonology
Volume50
Issue number3
DOIs
Publication statusPublished - Mar 1 2015

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Bronchopulmonary Dysplasia
Stem Cell Factor
Genes
Single Nucleotide Polymorphism
Finland
Premature Infants
Fetal Blood
Population
Hungary
Genetic Predisposition to Disease
Haplotypes
Lung Diseases
Canada

Keywords

  • Preterm infant
  • Single nucleotide polymorphisms
  • Stem cell factor

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

Cite this

Polymorphisms of the gene encoding Kit ligand are associated with bronchopulmonary dysplasia. / Gen-BPD Study Group.

In: Pediatric Pulmonology, Vol. 50, No. 3, 01.03.2015, p. 260-270.

Research output: Contribution to journalArticle

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title = "Polymorphisms of the gene encoding Kit ligand are associated with bronchopulmonary dysplasia",
abstract = "Bronchopulmonary dysplasia (BPD) is a chronic inflammatory lung disease that affects infants born preterm. Family studies indicate that BPD has a significant genetic component. Rationale: We assessed the gene encoding Kit ligand ( KITLG) as a candidate for genetic predisposition to moderate-to-severe BPD (controls were infants with no or mild BPD). Study design: Eight KITLG-tagging single nucleotide polymorphisms (SNPs) were analyzed in cohorts of very preterm infants originating from northern Finland (56 cases and 197 controls), southern Finland (n = 59 + 52), and Canada (n = 58 + 68). Additional replication populations included infants born in Finland (n = 41 + 241) and Hungary (n = 29 + 40). All infants were of European origin. Results were controlled for risk factors of BPD. Kit ligand concentration in umbilical cord blood, collected from very preterm infants (n = 120), was studied. Results: Six SNPs of KITLG and a haplotype including all eight genotyped SNPs were associated with moderate-to-severe BPD in the northern Finnish population. When all the populations were combined, SNP rs11104948 was significantly associated with BPD. Kit ligand concentration in umbilical cord blood of infants born very preterm was an independent risk factor of BPD. Conclusions: We show that KITLG polymorphisms are associated with susceptibility to moderate-to-severe BPD. In addition, higher Kit ligand concentrations were observed in infants that subsequently developed BPD. These results support the possibility that KITLG gene is involved in predisposition to BPD.",
keywords = "Preterm infant, Single nucleotide polymorphisms, Stem cell factor",
author = "{Gen-BPD Study Group} and Huusko, {Johanna M.} and Mari Mahlman and Karjalainen, {Minna K.} and Tuula Kaukola and Ritva Haataja and Riitta Marttila and Gergely Toldi and M. Szab{\'o} and Kingsmore, {Stephen F.} and Mika R{\"a}met and Lavoie, {Pascal M.} and Mikko Hallman",
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T1 - Polymorphisms of the gene encoding Kit ligand are associated with bronchopulmonary dysplasia

AU - Gen-BPD Study Group

AU - Huusko, Johanna M.

AU - Mahlman, Mari

AU - Karjalainen, Minna K.

AU - Kaukola, Tuula

AU - Haataja, Ritva

AU - Marttila, Riitta

AU - Toldi, Gergely

AU - Szabó, M.

AU - Kingsmore, Stephen F.

AU - Rämet, Mika

AU - Lavoie, Pascal M.

AU - Hallman, Mikko

PY - 2015/3/1

Y1 - 2015/3/1

N2 - Bronchopulmonary dysplasia (BPD) is a chronic inflammatory lung disease that affects infants born preterm. Family studies indicate that BPD has a significant genetic component. Rationale: We assessed the gene encoding Kit ligand ( KITLG) as a candidate for genetic predisposition to moderate-to-severe BPD (controls were infants with no or mild BPD). Study design: Eight KITLG-tagging single nucleotide polymorphisms (SNPs) were analyzed in cohorts of very preterm infants originating from northern Finland (56 cases and 197 controls), southern Finland (n = 59 + 52), and Canada (n = 58 + 68). Additional replication populations included infants born in Finland (n = 41 + 241) and Hungary (n = 29 + 40). All infants were of European origin. Results were controlled for risk factors of BPD. Kit ligand concentration in umbilical cord blood, collected from very preterm infants (n = 120), was studied. Results: Six SNPs of KITLG and a haplotype including all eight genotyped SNPs were associated with moderate-to-severe BPD in the northern Finnish population. When all the populations were combined, SNP rs11104948 was significantly associated with BPD. Kit ligand concentration in umbilical cord blood of infants born very preterm was an independent risk factor of BPD. Conclusions: We show that KITLG polymorphisms are associated with susceptibility to moderate-to-severe BPD. In addition, higher Kit ligand concentrations were observed in infants that subsequently developed BPD. These results support the possibility that KITLG gene is involved in predisposition to BPD.

AB - Bronchopulmonary dysplasia (BPD) is a chronic inflammatory lung disease that affects infants born preterm. Family studies indicate that BPD has a significant genetic component. Rationale: We assessed the gene encoding Kit ligand ( KITLG) as a candidate for genetic predisposition to moderate-to-severe BPD (controls were infants with no or mild BPD). Study design: Eight KITLG-tagging single nucleotide polymorphisms (SNPs) were analyzed in cohorts of very preterm infants originating from northern Finland (56 cases and 197 controls), southern Finland (n = 59 + 52), and Canada (n = 58 + 68). Additional replication populations included infants born in Finland (n = 41 + 241) and Hungary (n = 29 + 40). All infants were of European origin. Results were controlled for risk factors of BPD. Kit ligand concentration in umbilical cord blood, collected from very preterm infants (n = 120), was studied. Results: Six SNPs of KITLG and a haplotype including all eight genotyped SNPs were associated with moderate-to-severe BPD in the northern Finnish population. When all the populations were combined, SNP rs11104948 was significantly associated with BPD. Kit ligand concentration in umbilical cord blood of infants born very preterm was an independent risk factor of BPD. Conclusions: We show that KITLG polymorphisms are associated with susceptibility to moderate-to-severe BPD. In addition, higher Kit ligand concentrations were observed in infants that subsequently developed BPD. These results support the possibility that KITLG gene is involved in predisposition to BPD.

KW - Preterm infant

KW - Single nucleotide polymorphisms

KW - Stem cell factor

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U2 - 10.1002/ppul.23018

DO - 10.1002/ppul.23018

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JO - Pediatric Pulmonology

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