Evidence for an Association Between Infant Mortality and a Carnitine Palmitoyltransferase 1A Genetic Variant
Bibliographic record
Abstract
OBJECTIVE: Alaska Native and other circumpolar indigenous populations have historically experienced high infant mortality rates, for unknown reasons. Through routine newborn screening, Alaskan and Canadian indigenous infants have been found to have a high frequency of a single sequence variant (c.1436C→T) in the gene coding for carnitine palmitoyltransferase type 1A (CPT1A). We sought to determine whether these 2 findings were related. METHODS: As part of a quality control exercise at the Alaskan Newborn Metabolic Screening Program, we conducted genotyping for 616 consecutively born, Alaska Native infants and reviewed their medical records. We conducted an ecological analysis comparing Census area-level variant CPT1A allele frequency and historical Alaska Native infant, postneonatal, and neonatal mortality rates. RESULTS: Infant death was identified for 5 of 152 infants homozygous for the c.1436C→T sequence variant (33 deaths per 1000 live births), 2 of 219 heterozygous infants (9 deaths per 1000 live births), and 0 of 245 infants carrying no copies of the variant allele (χ(2) = 9.2; P = .01). All 7 cases of infant death had some evidence of an infectious process at the time of death, including 5 with respiratory infections. Census areas with the highest frequency of the variant allele had the highest historical infant, postneonatal, and neonatal mortality rates. CONCLUSIONS: Our data provide preliminary evidence that a highly prevalent CPT1A variant found among Alaska Native and other indigenous circumpolar populations may help explain historically high infant mortality rates. Larger definitive studies are needed.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".