PMID- 34295859
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210724
IS  - 2296-2360 (Print)
IS  - 2296-2360 (Electronic)
IS  - 2296-2360 (Linking)
VI  - 9
DP  - 2021
TI  - Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood 
      Respiratory and Other Infectious Illness in Nunavut.
PG  - 678553
LID - 10.3389/fped.2021.678553 [doi]
LID - 678553
AB  - Objective: Infectious illness, including lower respiratory tract infection 
      (LRTI), is a leading cause of childhood morbidity and infant mortality in Inuit 
      children in Nunavut Canada. The carnitine palmitoyltransferase 1A (CPT1A) p.P479L 
      variant is common in arctic Indigenous populations of Alaska, Canada, and 
      Greenland. CPT1A is a fatty acid oxidation enzyme expressed in the liver, 
      immunocytes and other tissues, and is needed to use fats for energy during 
      fasting. Previous association of the variant with early childhood infectious 
      illness and infant death has been challenged because of sample size and limited 
      adjustment for confounders. We evaluated whether the p.P479L variant is 
      associated with infectious illness in Inuit children of Nunavut, Canada. Methods: 
      We conducted a retrospective clinical chart review of 2,225 Inuit children (0-5 
      years) for infectious illness (including otitis media, gastroenteritis, and 
      hospital admission for LRTI), prenatal, perinatal, and socioeconomic indicators, 
      subsequently linking to CPT1A genotype. Multivariable logistic regression 
      adjusted for birth characteristics, breastfeeding, maternal smoking, food 
      insecurity, and socioeconomic indicators. Results: Overall, 27% of children were 
      hospitalized for LRTI, 86% had otitis media and 50% had gastroenteritis. The 
      p.P479L allele frequency was 0.82. In multivariable analysis, p.P479L 
      homozygosity was associated with LRTI admission (aOR:2.88 95%CI:1.46-5.64), 
      otitis media (aOR:1.83, 95%CI:1.05-3.21), and gastroenteritis (aOR:1.74, 
      95%CI:1.09-2.77), compared to non-carriers. Conclusion: Children homozygous for 
      the p.P479L variant were more likely to experience infectious illness than 
      non-carriers, including hospitalization for respiratory tract infections. Given 
      the role of CPT1A in immunocytes, our findings indicate that more study is needed 
      to determine if there is a role of the variant in immune response. Continued 
      Inuit involvement is essential when considering next steps.
CI  - Copyright (c) 2021 Collins, Edmunds, Akearok, Thompson, Erickson, Hildes-Ripstein, 
      Miners, Somerville, Goldfarb, Rockman-Greenberg and Arbour.
FAU - Collins, Sorcha A
AU  - Collins SA
AD  - Department of Medical Genetics, University of British Columbia, Vancouver, BC, 
      Canada.
FAU - Edmunds, Sharon
AU  - Edmunds S
AD  - Department of Research, Monitoring, and Evaluation, Nunavut Tunngavik Inc., 
      Iqaluit, NU, Canada.
FAU - Akearok, Gwen Healey
AU  - Akearok GH
AD  - Qaujigiartiit Health Research Centre, Iqaluit, NU, Canada.
FAU - Thompson, J Robert
AU  - Thompson JR
AD  - Cadham Provincial Laboratory, Winnipeg, MB, Canada.
FAU - Erickson, Anders C
AU  - Erickson AC
AD  - School of Population and Public Health, University of British Columbia, 
      Vancouver, BC, Canada.
FAU - Hildes-Ripstein, Elske
AU  - Hildes-Ripstein E
AD  - Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, 
      Canada.
FAU - Miners, Amber
AU  - Miners A
AD  - Department of Health, Government of Nunavut, Iqaluit, NU, Canada.
FAU - Somerville, Martin
AU  - Somerville M
AD  - Department of Laboratory Medicine and Pathobiology University of Toronto, 
      Toronto, ON, Canada.
FAU - Goldfarb, David M
AU  - Goldfarb DM
AD  - Department of Pathology and Laboratory Medicine, University of British Columbia, 
      Vancouver, BC, Canada.
FAU - Rockman-Greenberg, Cheryl
AU  - Rockman-Greenberg C
AD  - Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, 
      Canada.
FAU - Arbour, Laura
AU  - Arbour L
AD  - Department of Medical Genetics, University of British Columbia, Vancouver, BC, 
      Canada.
LA  - eng
PT  - Journal Article
DEP - 20210706
PL  - Switzerland
TA  - Front Pediatr
JT  - Frontiers in pediatrics
JID - 101615492
PMC - PMC8290072
OTO - NOTNLM
OT  - Indigenous
OT  - Inuit
OT  - carnitine palmitoyltransferase 1A
OT  - infectious illness
OT  - p.P479L arctic variant
OT  - respiratory tract infection in children
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2021/07/24 06:00
MHDA- 2021/07/24 06:01
PMCR- 2021/07/06
CRDT- 2021/07/23 06:51
PHST- 2021/03/09 00:00 [received]
PHST- 2021/06/14 00:00 [accepted]
PHST- 2021/07/23 06:51 [entrez]
PHST- 2021/07/24 06:00 [pubmed]
PHST- 2021/07/24 06:01 [medline]
PHST- 2021/07/06 00:00 [pmc-release]
AID - 10.3389/fped.2021.678553 [doi]
PST - epublish
SO  - Front Pediatr. 2021 Jul 6;9:678553. doi: 10.3389/fped.2021.678553. eCollection 
      2021.