PMID- 26820065
OWN - NLM
STAT- MEDLINE
DCOM- 20171211
LR  - 20240109
IS  - 1530-0366 (Electronic)
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 18
IP  - 9
DP  - 2016 Sep
TI  - Evidence for an association between infant mortality and homozygosity for the 
      arctic variant of carnitine palmitoyltransferase 1A.
PG  - 933-9
LID - 10.1038/gim.2015.197 [doi]
AB  - PURPOSE: Infant mortality in Alaska is highest among Alaska Native people from 
      western/northern Alaska, a population with a high prevalence of a genetic variant 
      (c.1436C>T; the arctic variant) of carnitine palmitoyltransferase 1A (CPT1A). 
      METHODS: We performed an unmatched case-control study to determine the 
      relationship between the arctic variant and infant mortality. The cases were 110 
      Alaska Native infant deaths from 2006 to 2010 and the controls were 395 Alaska 
      Native births from the same time period. In addition to the overall analysis, we 
      conducted two subanalyses, one limited to subjects from western/northern Alaska 
      and one limited to infants heterozygous or homozygous for the arctic variant. 
      RESULTS: Among western/northern Alaska residents, 66% of cases and 61% of 
      controls were homozygous (adjusted odds ratio (aOR): 2.5; 95% confidence interval 
      (CI): 1.3, 5.0). Among homozygous or heterozygous infants, 58% of cases and 44% 
      of controls were homozygous (aOR: 2.3; 95% CI: 1.3, 4.0). Deaths associated with 
      infection were more likely to be homozygous (OR: 2.9; 95% CI: 1.0-8.0). 
      Homozygosity was strongly associated with a premorbid history of pneumonia, 
      sepsis, or meningitis. CONCLUSION: 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.
FAU - Gessner, Bradford D
AU  - Gessner BD
AD  - Alaska Division of Public Health, Anchorage, Alaska, USA.
AD  - Present address: EpiVac Consulting, Anchorage, Alaska, USA.
FAU - Wood, Thalia
AU  - Wood T
AUID- ORCID: 0000-0001-9563-6391
AD  - Alaska Division of Public Health, Anchorage, Alaska, USA.
AD  - Present address: EpiVac Consulting, Anchorage, Alaska, USA.
FAU - Johnson, Monique A
AU  - Johnson MA
AD  - Department of Molecular and Medical Genetics, Oregon Health & Science University, 
      Portland, Oregon, USA.
FAU - Richards, Carolyn Sue
AU  - Richards CS
AUID- ORCID: 0000-0003-1078-979X
AD  - Department of Molecular and Medical Genetics, Oregon Health & Science University, 
      Portland, Oregon, USA.
FAU - Koeller, David M
AU  - Koeller DM
AUID- ORCID: 0000-0002-4340-4908
AD  - Department of Molecular and Medical Genetics, Oregon Health & Science University, 
      Portland, Oregon, USA.
AD  - Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, 
      USA.
LA  - eng
GR  - R03 HD060728/HD/NICHD NIH HHS/United States
PT  - Journal Article
DEP - 20160128
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
RN  - EC 2.3.1.21 (CPT1A protein, human)
RN  - EC 2.3.1.21 (Carnitine O-Palmitoyltransferase)
SB  - IM
MH  - Alaska
MH  - Alaska Natives/genetics
MH  - Carnitine O-Palmitoyltransferase/*genetics
MH  - Communicable Diseases/*genetics/mortality/pathology
MH  - Female
MH  - Genetic Association Studies
MH  - Genetic Variation
MH  - Homozygote
MH  - Humans
MH  - Indians, North American
MH  - Infant
MH  - *Infant Mortality
MH  - Infant, Newborn
MH  - Male
MH  - Meningitis/genetics/mortality
MH  - *Neonatal Screening
MH  - Pneumonia/genetics/mortality
MH  - Risk Factors
MH  - Sepsis/genetics/mortality
PMC - PMC4965343
MID - NIHMS744789
EDAT- 2016/01/29 06:00
MHDA- 2017/12/12 06:00
PMCR- 2016/07/28
CRDT- 2016/01/29 06:00
PHST- 2015/07/17 00:00 [received]
PHST- 2015/11/17 00:00 [accepted]
PHST- 2016/01/29 06:00 [entrez]
PHST- 2016/01/29 06:00 [pubmed]
PHST- 2017/12/12 06:00 [medline]
PHST- 2016/07/28 00:00 [pmc-release]
AID - S1098-3600(21)04441-5 [pii]
AID - 10.1038/gim.2015.197 [doi]
PST - ppublish
SO  - Genet Med. 2016 Sep;18(9):933-9. doi: 10.1038/gim.2015.197. Epub 2016 Jan 28.