Document Detail

Heritability of apnea of prematurity: a retrospective twin study.
MedLine Citation:
PMID:  20837586     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Apnea of prematurity (AOP) is a disturbance in respiratory rhythm defined by idiopathic pauses in breathing that reduce blood oxygen levels and/or heart rate. It is a major clinical problem among preterm infants. OBJECTIVES: The primary goal of this study was to estimate the genetic susceptibility to AOP in a cohort of preterm twins. A secondary aim was to identify risk factors associated with AOP in this cohort. METHODS: A single-center, retrospective study (2000-2008) was performed by using data from 317 premature twin pairs (<36 weeks' gestational age). Heritability estimates were determined by comparing intrapair AOP concordance between 56 monozygotic and 161 dizygotic twin pairs by using structural equation modeling. Risk factors of AOP among a cohort of 543 premature twins were assessed by using mixed-effects logistic regression. RESULTS: The heritability of AOP was 87% (95% confidence interval [CI]: 0.64-0.97) among same-gender twins. A gender-dependent model revealed that genetic factors accounted for 99% of the variance in male twins (95% CI: 0.89-1.00) and 78% of the variance in female twins (95% CI: 0.49-0.94). Significant risk factors for AOP were low gestational age (P<.001), cesarean delivery (P=.017), and conception through assisted reproductive technologies (P=.008). CONCLUSIONS: These findings suggest that AOP has an important genetic basis underlying this developmental-related disorder of respiratory control. Future genomic studies may provide information on pathophysiological mechanisms that underlie AOP.
Elisabeth Bloch-Salisbury; Mei Hua Hall; Priya Sharma; Theonia Boyd; Francis Bednarek; David Paydarfar
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Twin Study     Date:  2010-09-13
Journal Detail:
Title:  Pediatrics     Volume:  126     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-10-05     Completed Date:  2010-10-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e779-87     Citation Subset:  AIM; IM    
Department of Neurology, University of Massachusetts Medical School, 55 Lake Ave N, Worcester, MA 01655, USA.
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MeSH Terms
Apnea / etiology,  genetics*
Diseases in Twins / etiology,  genetics*
Genetic Predisposition to Disease
Infant, Newborn
Infant, Premature
Infant, Premature, Diseases / etiology,  genetics*
Risk Factors
Twins, Dizygotic
Twins, Monozygotic

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

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