Department of Microbiology and Infectious Diseases, SA Pathology at the Women's & Children's Hospital, North Adelaide, South Australia, Australia.
Arch Dis Child. 2010 Dec;95(12):1009-12. doi: 10.1136/adc.2010.188268. Epub 2010 Sep 29.
To investigate if carriage of interleukin 1 (IL-1) receptor antagonist gene variants are associated with sudden infant death syndrome (SIDS) in a large cohort of case-control demographically matched infants.
118 SIDS and 233 control infants, who were matched to each SIDS infant by date of birth, sex, birth weight (±500 g), gestational age and ethnicity, were genotyped for an IL-1RN 89 bp tandem repeat polymorphism and analysed for significant associations.
No significant difference in genotype frequencies was observed between low and normal birthweight infants and year of birth (1987-1994, when the SIDS incidence was higher). In infants born between 1987 and 1994, an association was observed with SIDS and allele 2 where 18% of SIDS infants carried the 2/2 genotype compared with 9% of controls (χ(2) p=0.026, OR 2.46). Allele 3 was found at a low frequency, but was significantly more common in SIDS infants (3.1%) compared with controls (0.9%, Fisher's exact p=0.04, OR 3.76).
The higher prevalence of IL-1RN allele 2, which predisposes to poor outcomes from infection, in SIDS infants born between 1987 and 1994 (ie, prior to the dramatic decrease in SIDS incidence) suggests that the high incidence during this period could point to infection playing a role in aetiology. An association of IL-1RN allele 3 with SIDS was also found, but should be interpreted with caution due to the low frequency of this variant. The consequence of allele 3 carriage is currently unknown in the absence of functionality studies for this isoform.
在一个大型病例对照人群中,调查白细胞介素 1(IL-1)受体拮抗剂基因变异是否与婴儿猝死综合征(SIDS)相关。
对 118 例 SIDS 和 233 例对照婴儿进行基因分型,这些婴儿通过出生日期、性别、出生体重(±500g)、胎龄和种族与每个 SIDS 婴儿相匹配,并分析其与 IL-1RN89bp 串联重复多态性的显著相关性。
在出生体重低和正常的婴儿以及出生年份(1987-1994 年,SIDS 发病率较高)之间,基因型频率无显著差异。在 1987 年至 1994 年出生的婴儿中,与 SIDS 相关的等位基因 2 观察到与 SIDS 的关联,其中 18%的 SIDS 婴儿携带 2/2 基因型,而对照组为 9%(χ²p=0.026,OR2.46)。等位基因 3 的频率较低,但在 SIDS 婴儿中明显更为常见(3.1%),而对照组为 0.9%(Fisher 精确检验 p=0.04,OR3.76)。
1987 年至 1994 年(即 SIDS 发病率大幅下降之前)出生的 SIDS 婴儿中,IL-1RN 等位基因 2 的患病率较高,这会导致感染预后不良,表明在此期间高发病率可能表明感染在病因学中起作用。还发现了与 SIDS 相关的 IL-1RN 等位基因 3 的关联,但由于该变体的频率较低,应谨慎解释。在缺乏对该同工型进行功能研究的情况下,目前尚不清楚携带等位基因 3 的后果。