Hesselmar Bill, Enelund Anna-Carin, Eriksson Bo, Padyukov Leonid, Hanson Lars Å, Aberg Nils
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, 41685 Gothenburg, Sweden.
J Allergy (Cairo). 2012;2012:163089. doi: 10.1155/2012/163089. Epub 2012 Apr 11.
Objective. Genetic heterogeneity and risk factor distribution was analyzed in two previously proposed asthma phenotypes. Method. A sample of 412 subjects was investigated at 7-8, 12-13, and 21-22 years of age with questionnaires, skin prick tests, and genetic analysis of IL-4 receptor (IL4R) single-nucleotide polymorphisms. The sample was subdivided in one group with no asthma, and two groups with asthma separated by age of onset of symptoms, namely, early onset asthma (EOA) and late onset asthma (LOA). Risk factors and IL4R markers were analyzed in respect to asthma phenotypes. Results. EOA and LOA groups were both associated with atopy and a maternal history of asthma. Female gender was more common in LOA, whereas childhood eczema, frequent colds in infancy, and a paternal history of asthma were more common in EOA. The AA genotype of rs2057768 and the GG genotype of rs1805010 were more common in LOA, whereas the GG genotype of rs2107356 was less common in EOA. Conclusion. Our data suggest that early and late onset asthma may be of different endotypes and genotypes.
目的。对先前提出的两种哮喘表型的遗传异质性和危险因素分布进行分析。方法。对412名受试者进行调查,他们在7 - 8岁、12 - 13岁和21 - 22岁时接受问卷调查、皮肤点刺试验以及白细胞介素4受体(IL4R)单核苷酸多态性的基因分析。样本分为一组无哮喘者,以及两组有哮喘者,根据症状发作年龄分为早发型哮喘(EOA)和晚发型哮喘(LOA)。针对哮喘表型分析危险因素和IL4R标记。结果。EOA组和LOA组均与特应性和哮喘家族史相关。女性在LOA组中更为常见,而儿童湿疹、婴儿期频繁感冒以及哮喘家族史在EOA组中更为常见。rs2057768的AA基因型和rs1805010的GG基因型在LOA组中更为常见,而rs2107356的GG基因型在EOA组中较少见。结论。我们的数据表明,早发型和晚发型哮喘可能具有不同的内型和基因型。