Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
Bradford D GessnerThalia WoodMonique A JohnsonCarolyn Sue RichardsDavid M KoellerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Homozygosity 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.