Petersen G M, Silimperi D R, Scott E M, Hall D B, Rotter J I, Ward J I
Lancet. 1985 Aug 24;2(8452):417-9. doi: 10.1016/s0140-6736(85)92738-2.
Alaskan Eskimos have the highest known prevalence of invasive Haemophilus influenzae type b (Hib) disease, primarily meningitis, affecting 1-5% of all children in the first two years of life. In this population a polymorphic genetic variant of the pyrimidine pathway enzyme, uridine monophosphate kinase-3 (UMPK-3), was found to be positively associated with invasive Hib disease (relative risk 3.3) and a tendency towards a younger age at onset of illness. There was no difference in levels of naturally acquired Hib anticapsular antibody between persons with Hib disease and healthy controls in this population. This suggests that UMPK-3 may have a role in mediating non-humoral immunity to Hib. However, unlike other enzyme variants in the nucleoside synthesis pathways which result in syndromes of severe immunodeficiency, this gene appears to confer a more subtle disease susceptibility.
阿拉斯加爱斯基摩人侵袭性 b 型流感嗜血杆菌（Hib）疾病的已知患病率最高，主要为脑膜炎，在所有两岁以下儿童中，患病率为 1%至 5%。在这一人群中，嘧啶途径酶尿苷单磷酸激酶 -3（UMPK -3）的一种多态性基因变体被发现与侵袭性 Hib 疾病呈正相关（相对风险为 3.3），且发病年龄有年轻化趋势。在这一人群中，患 Hib 疾病者与健康对照者之间自然获得的 Hib 抗荚膜抗体水平没有差异。这表明 UMPK -3 可能在介导针对 Hib 的非体液免疫中发挥作用。然而，与核苷合成途径中导致严重免疫缺陷综合征的其他酶变体不同，该基因似乎赋予了一种更为微妙的疾病易感性。
