Alaska Division of Public Health, Anchorage, Alaska.
J Pediatr. 2013 Dec;163(6):1716-21. doi: 10.1016/j.jpeds.2013.07.010. Epub 2013 Aug 27.
To evaluate whether the arctic variant (c.1436C→T) of carnitine palmitoyltransferase type 1A (CPT1A) is associated with a higher incidence of adverse health outcomes in Alaska Native infants and children.
We evaluated health measures from birth certificates (n = 605) and Alaska Medicaid billing claims (n = 427) collected from birth to 2.5 years of age for a cohort of Alaska Native infants with known CPT1A genotype. To account for geographic variations in gene distribution and other variables, data also were evaluated in cohorts.
When analysis was restricted to residents of nonhub communities in Western and Northern Alaska, children homozygous for the arctic variant experienced more episodes of lower respiratory tract infection than did heterozygous or noncarrier children (5.5 vs 3.7, P = .067) and were more likely to have had otitis media (86% vs 69%, 95% CI 1.4-8.9). Associations were weaker for more homogeneous cohorts.
The association of the arctic variant of CPT1A with infectious disease outcomes in children between birth and 2.5 years of age suggests that this variant may play a role in the historically high incidence of these health outcomes among indigenous Arctic populations; further studies will need to assess if this association was confounded by other risk factors.
评估肉毒碱棕榈酰基转移酶 1A（CPT1A）的北极变体（c.1436C→T）是否与阿拉斯加原住民婴儿和儿童不良健康结果的发生率较高有关。
我们评估了从出生到 2.5 岁的已知 CPT1A 基因型的阿拉斯加原住民婴儿出生证明（n = 605）和阿拉斯加医疗补助计费索赔（n = 427）中的健康指标。为了考虑基因分布和其他变量的地理差异，还在队列中评估了数据。
当分析仅限于阿拉斯加西部和北部非中心社区的居民时，与杂合子或非携带者相比，纯合北极变体的儿童下呼吸道感染的发作次数更多（5.5 比 3.7，P =.067），并且更有可能患有中耳炎（86%比 69%，95%CI 1.4-8.9）。在更同质的队列中，相关性较弱。
CPT1A 的北极变体与出生至 2.5 岁儿童传染病结局之间的关联表明，该变体可能在土著北极人群中这些健康结果的历史高发率中发挥作用；需要进一步研究来评估这种关联是否受到其他危险因素的影响。
