Document Detail

IL-18R1 and IL-18RAP SNPs may be associated with bronchopulmonary dysplasia in African-American infants.
MedLine Citation:
PMID:  22289858     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: The genetic contribution to the development of bronchopulmonary dysplasia (BPD) in prematurely born infants is substantial, but information related to the specific genes involved is lacking.
RESULTS: Genotype analysis revealed, after multiple comparisons correction, two significant single-nucleotide polymorphism (SNPs), rs3771150 (IL-18RAP) and rs3771171 (IL-18R1), in African Americans (AAs) with BPD (vs. AAs without BPD; q < 0.05). No associations with Caucasian (CA) BPD, AA or CA respiratory distress syndrome (RDS), or prematurity in either AAs or CAs were identified with these SNPs. Respective frequencies were 0.098 and 0.093 in infants without BPD and 0.38 for each SNP in infants with BPD. In the replication set (82 cases; 102 controls), the P values were 0.012 for rs3771150 and 0.07 for rs3771171. Combining P values using Fisher's method, overall P values were 8.31 × 10(-7) for rs3771150 and 6.33 × 10(-6) for rs3771171.
DISCUSSION: We conclude that IL-18RAP and IL-18R1 SNPs identify AA infants at risk for BPD. These genes may contribute to AA BPD pathogenesis via inflammatory-mediated processes and require further study.
METHODS: We conducted a case-control SNP association study of candidate genes (n = 601) or 6,324 SNPs in 1,091 prematurely born infants with gestational age <35 weeks, with or without neonatal lung disease including BPD. BPD was defined as a need for oxygen at 28 days.
Joanna Floros; Douglas Londono; Derek Gordon; Patricia Silveyra; Susan L Diangelo; Rose M Viscardi; George S Worthen; Jeffrey Shenberger; Guirong Wang; Zhenwu Lin; Neal J Thomas
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Pediatric research     Volume:  71     ISSN:  1530-0447     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-01-31     Completed Date:  2012-05-15     Revised Date:  2013-06-26    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  107-14     Citation Subset:  IM    
Department of Pediatrics and CHILD Research, Penn State College of Medicine, Hershey, Pennsylvania, USA.
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MeSH Terms
African Americans / genetics*
Bronchopulmonary Dysplasia / genetics*
Genetic Predisposition to Disease
Gestational Age
Infant, Newborn
Infant, Premature
Interleukin-18 Receptor alpha Subunit / genetics*
Interleukin-18 Receptor beta Subunit / genetics*
Polymorphism, Single Nucleotide*
Respiratory Distress Syndrome, Newborn / genetics*
Grant Support
Reg. No./Substance:
0/IL18R1 protein, human; 0/IL18RAP protein, human; 0/Interleukin-18 Receptor alpha Subunit; 0/Interleukin-18 Receptor beta Subunit

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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