Document Detail


The heritability of metabolic profiles in newborn twins.
MedLine Citation:
PMID:  23149456     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Identifying genetic and metabolic biomarkers in neonates has the potential to improve diagnosis and treatment of common complex neonatal diseases, and potentially lead to risk assessment and preventative measures for common adulthood illnesses such as diabetes and cardiovascular disease. There is a wealth of information on using fatty acid, amino acid and organic acid metabolite profiles to identify rare inherited congenital diseases through newborn screening, but little is known about these metabolic profiles in the context of the 'healthy' newborn. Recent studies have implicated many of the amino acid and fatty acid metabolites utilized in newborn screening in common complex adult diseases such as cardiovascular disease, insulin resistance and obesity. To determine the heritability of metabolic profiles in newborns, we examined 381 twin pairs obtained from the Iowa Neonatal Metabolic Screening Program. Heritability was estimated using multilevel mixed-effects linear regression adjusting for gestational age, gender, weight and age at time of sample collection. The highest heritability was for short-chain acylcarnitines, specifically C4 (h²=0.66, P=2 × 10⁻¹⁶), C4-DC (h²=0.83, P<10⁻¹⁶) and C5 (h²=0.61, P=1 × 10⁻⁹). Thyroid stimulating hormone (h²=0.58, P=2 × 10⁻⁵) and immunoreactive trypsinogen (h²=0.52, P=3 × 10⁻⁹) also have a strong genetic component. This is direct evidence for a strong genetic contribution to the metabolic profile at birth and that newborn screening data can be utilized for studying the genetic regulation of many clinically relevant metabolites.
Authors:
F Y Alul; D E Cook; O A Shchelochkov; L G Fleener; S L Berberich; J C Murray; K K Ryckman
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-11-14
Journal Detail:
Title:  Heredity     Volume:  110     ISSN:  1365-2540     ISO Abbreviation:  Heredity (Edinb)     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-14     Completed Date:  2013-07-22     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  0373007     Medline TA:  Heredity (Edinb)     Country:  England    
Other Details:
Languages:  eng     Pagination:  253-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Birth Weight
Carnitine / analogs & derivatives,  blood,  genetics
Female
Gestational Age
Humans
Infant, Newborn
Inheritance Patterns*
Linear Models
Male
Metabolome / genetics*
Neonatal Screening
Thyrotropin / blood,  genetics
Trypsinogen / blood,  genetics
Twins, Dizygotic / genetics*
Twins, Monozygotic / genetics*
Grant Support
ID/Acronym/Agency:
K99 HD-65786/HD/NICHD NIH HHS; P30 ES005605/ES/NIEHS NIH HHS; R00 HD065786/HD/NICHD NIH HHS; R01 HD-52953/HD/NICHD NIH HHS; R01 HD-57192/HD/NICHD NIH HHS; R01 HD052953/HD/NICHD NIH HHS; R01 HD057192/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/acylcarnitine; 541-15-1/Carnitine; 9002-08-8/Trypsinogen; 9002-71-5/Thyrotropin
Comments/Corrections

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


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