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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.
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Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.

机译：婴儿死亡率与肉碱棕榈酰转移酶1A基因变异之间存在关联的证据。

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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 (chi(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.
机译：目的：由于未知原因，阿拉斯加原住民和其他沿极土著居民历来经历了很高的婴儿死亡率。通过常规新生儿筛查，已发现阿拉斯加和加拿大土著婴儿在编码1A型肉碱棕榈酰转移酶（CPT1A）的基因中具有较高的单序列变异（c.1436C-> T）。我们试图确定这两个发现是否相关。方法：作为阿拉斯加新生儿代谢筛查计划质量控制活动的一部分，我们对616名连续出生的阿拉斯加土著婴儿进行了基因分型，并复查了他们的病历。我们进行了生态分析，比较了人口普查地区水平的CPT1A等位基因频率和历史阿拉斯加土著婴儿，新生儿和新生儿死亡率。结果：在c.1436C-> T序列变异纯合子中，有152例婴儿中有5例婴儿死亡（每1000例活产中有33例死亡），在219例杂合子中有2例（每千活产中有9例死亡），在245例中有0例没有携带变异等位基因拷贝的婴儿（chi（2）= 9.2; P = 0.01）。所有7例婴儿死亡都有一些死亡时的感染过程的证据，包括5例呼吸道感染。变异等位基因频率最高的人口普查地区的婴儿，新生儿和新生儿死亡率最高。结论：我们的数据提供了初步的证据，表明在阿拉斯加土著人和其他土著绕极人群中发现的高度流行的CPT1A变异体可能有助于解释历史上较高的婴儿死亡率。需要更大的确定性研究。

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