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​Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.

​Carnitine palmitoyltransferase 1 isoform A (CPT1A) is a crucial enzyme for the transport of long-chain fatty acids into the mitochondria. The CPT1A p.P479L variant is found in high frequencies among indigenous populations residing on the west and north coasts of Alaska and Canada and in northeast Siberia and Greenland. Epidemiological studies have reported a statistical association between P479L homozygosity and infant death in Alaska Native and Canadian Inuit populations. Here, we review the available evidence about the P479L variant and apply to these data the epidemiological criteria for assessing causal associations. We found insufficient evidence to support a causal association with infant death and, further, that if a causal association is present, then the genotype is likely to be only one of a complex set of factors contributing to an increased risk of infant death. We conclude that additional research is needed to clarify the observed association and to inform effective preventative measures for infant death. In light of these findings, we discuss the policy implications for public health efforts because policies based on the observed association between P479L homozygosity and infant death data are premature.Genet Med advance online publication 26 January 2017.

Authors: Fohner AE; Garrison NA; ,; Austin MA; Burke W;

​Genet Med. 2017 Aug;19(8):851-857. doi: 10.1038/gim.2016.202. Epub 2017 Jan 26.

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