Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
B D GessnerDavid M Koeller

Abstract

Infant mortality in Alaska is highest among Alaska Native people from western/northern Alaska, a population with a high prevalence of a genetic variant (c.1436C>T; the arctic variant) of carnitine palmitoyltransferase 1A (CPT1A). We performed an unmatched case-control study to determine the relationship between the arctic variant and infant mortality. The cases were 110 Alaska Native infant deaths from 2006 to 2010 and the controls were 395 Alaska Native births from the same time period. In addition to the overall analysis, we conducted two subanalyses, one limited to subjects from western/northern Alaska and one limited to infants heterozygous or homozygous for the arctic variant. Among western/northern Alaska residents, 66% of cases and 61% of controls were homozygous (adjusted odds ratio (aOR): 2.5; 95% confidence interval (CI): 1.3, 5.0). Among homozygous or heterozygous infants, 58% of cases and 44% of controls were homozygous (aOR: 2.3; 95% CI: 1.3, 4.0). Deaths associated with infection were more likely to be homozygous (OR: 2.9; 95% CI: 1.0-8.0). Homozygosity was strongly associated with a premorbid history of pneumonia, sepsis, or meningitis. Homozygosity for the arctic variant is associated with increased risk of infa...Continue Reading

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Citations

Jan 27, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alison E FohnerWylie Burke
Aug 5, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·David M KoellerBradford D Gessner
Jun 15, 2017·Circulation. Cardiovascular Genetics·Line SkotteBjarke Feenstra
May 23, 2019·FEBS Letters·Michał SzpakChris Tyler-Smith
Jun 22, 2018·Reviews in Endocrine & Metabolic Disorders·Suzan J G KnottnerusRiekelt H Houtkooper
Apr 19, 2019·Paediatrics & Child Health·Graham SinclairHilary Vallance
Feb 24, 2020·Molecular Genetics and Metabolism·Nicola Hale
Mar 15, 2021·Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners·Sarah E Evans

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Methods Mentioned

BETA
Genotyping

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