The role of the carnitine palmitoyltransferase 1A (CPT1A) p.P479L variant in Inuit infant and child health outcomes in Nunavut ...

• Main Author: Collins, Sorcha
• Format: Text
• Language: English
• Published: University of British Columbia 2020
• Subjects: inuit; Nunavut
• Online Access: https://dx.doi.org/10.14288/1.0394141; https://doi.library.ubc.ca/10.14288/1.0394141

Nunavut leads the country for a number of adverse early child health outcomes, including infant hospitalizations for lower respiratory tract infection (LRTI; ~306/1,000), otitis media (85%) and infant mortality (21.5/1,000). The p.P479L (c.1436C>T, rs80356779) variant of carnitine palmitoyltransferase 1A (CPT1A), an enzyme required for long-chain fatty acid oxidation in the liver, pancreas, lymphocytes and other tissues, is prevalent in northern Indigenous populations of Canada. Although evidence is limited, the p.P479L variant has been associated with childhood infectious illness, hypoglycemia, seizures and with unexpected infant death and infant death due to infection. This dissertation investigated the association of p.P479L variant with infant and child morbidity (up to five years) in the context of relevant prenatal, postnatal and socioeconomic variables in a cohort of 2523 Inuit children living in Nunavut born from Jan-2010 to Dec-2013. The results demonstrate that the CPT1A p.P479L variant was ...