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Variant interleukin 1 receptor antagonist gene alleles in sudden infant death syndrome.

机译:婴儿猝死综合征的变异白介素1受体拮抗剂基因等位基因。

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OBJECTIVE: 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. DESIGN: 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. RESULTS: 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 (chi(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). CONCLUSION: 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.
机译:目的:研究大量病例对照人口统计学匹配婴儿队列中白介素1(IL-1)受体拮抗剂基因变异的携带是否与婴儿猝死综合症(SIDS)相关。设计:对118名SIDS和233名对照婴儿进行了基因分型,这些婴儿均按出生日期,性别,出生体重(+/- 500克),胎龄和种族与每个SIDS婴儿匹配,并具有IL-1RN 89 bp串联重复多态性并分析了重要的关联。结果:出生体重低和正常的婴儿与出生年份(1987-1994,当SIDS发生率较高时)之间的基因型频率没有显着差异。在1987年至1994年之间出生的婴儿中,与SIDS和等位基因2相关联,其中18%的SIDS婴儿携带2/2基因型,而对照组则为9%(chi(2)p = 0.026,OR 2.46)。发现等位基因3的频率较低,但与对照组(0.9%,Fisher精确p = 0.04,OR 3.76)相比,在SIDS婴儿中更为常见(3.1%)。结论:1987年至1994年间(即在SIDS发病率急剧下降之前)出生的SIDS婴儿中IL-1RN等位基因2的患病率较高,这容易导致感染预后不良,表明这一时期的高发病率可能表明感染在病因中起作用。还发现了IL-1RN等位基因3与SIDS的关联,但由于该变异的频率较低,因此应谨慎解释。由于缺乏对该亚型的功能研究,目前尚不清楚等位基因3携带的结果。

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