ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 26 citations in OpenAlex.
- Precision nutrition across climates: decoding diet, tradition, and genomic adaptations from South Asia to the Arctic.Frontiers in nutrition · 2025Review
- The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.Journal of community genetics · 2023Article
- Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation.Communications biology · 2022Article
- Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.JIMD reports · 2022Article
- Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut.Paediatrics & child health · 2021Article
- Association of theFrontiers in pediatrics · 2021Article
- The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation.Paediatrics & child health · 2019Article
- Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.Reviews in endocrine & metabolic disorders · 2018Review
- Health effects of the CPT1A P479L variant: responsible public health policy.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Understanding Risk Factors for Otitis Media in Rural Alaska Native Children: A Cohort Study.Ear and hearingArticle
- Assessing Environmental, Nutritional, and Genetic Factors for Otitis Media-Related Hearing Loss in Rural Alaska Native Children.Ear and hearingArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
purposeInfant 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).
methodsWe 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.
resultsAmong 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.
conclusionHomozygosity for the arctic variant is associated with increased risk of infant mortality, which may be mediated in part by an increase in infectious disease risk. Further studies are needed to determine whether the association we report represents a causal association between the CPT1A arctic variant and infectious disease-specific mortality.Genet Med 18 9, 933-939.
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