Association of a genetic variant of carnitine palmitoyltransferase 1a with infections in alaska native children

Bradford D. Gessner, Melanie B. Gillingham, Thalia Wood, David M. Koeller

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Objective 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. Study design 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. Results 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. Conclusions 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.

Original languageEnglish (US)
Pages (from-to)1716-1721
Number of pages6
JournalJournal of Pediatrics
Issue number6
StatePublished - Dec 2013

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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