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J Pediatr. 2013 Dec;163(6):1716-21. doi: 10.1016/j.jpeds.2013.07.010. Epub 2013 Aug 27.

Association of a genetic variant of carnitine palmitoyltransferase 1A with infections in Alaska Native children.

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Alaska Division of Public Health, Anchorage, Alaska. Electronic address:



To evaluate whether the arctic variant (c.1436C→T) of carnitine palmitoyltransferase type 1A (CPT1A) is associated with a higher incidence of adverse health outcomes in Alaska Native infants and children.


We evaluated health measures from birth certificates (n = 605) and Alaska Medicaid billing claims (n = 427) collected from birth to 2.5 years of age for a cohort of Alaska Native infants with known CPT1A genotype. To account for geographic variations in gene distribution and other variables, data also were evaluated in cohorts.


When analysis was restricted to residents of nonhub communities in Western and Northern Alaska, children homozygous for the arctic variant experienced more episodes of lower respiratory tract infection than did heterozygous or noncarrier children (5.5 vs 3.7, P = .067) and were more likely to have had otitis media (86% vs 69%, 95% CI 1.4-8.9). Associations were weaker for more homogeneous cohorts.


The association of the arctic variant of CPT1A with infectious disease outcomes in children between birth and 2.5 years of age suggests that this variant may play a role in the historically high incidence of these health outcomes among indigenous Arctic populations; further studies will need to assess if this association was confounded by other risk factors.


CPT1A; Carnitine palmitoyltransferase type 1A; ICD-9; International Classification of Diseases, Ninth Revision; LRI; Lower respiratory tract infection; MS/MS; OM; Otitis media; RSV; Respiratory syncytial virus; Tandem mass spectrometry

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