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人类白细胞介素4和白细胞介素5基因多态性与特应性支气管哮喘及疾病严重程度的关联

Association of polymorphisms in the human IL4 and IL5 genes with atopic bronchial asthma and severity of the disease.

作者信息

Freidin Maxim B, Kobyakova Olga S, Ogorodova Ludmila M, Puzyrev Valery P

机构信息

Population Genetics Laboratory, Research Institute for Medical Genetics, 10 Nab. r. Ushaiky Ave., Tomsk 634050, Russia.

出版信息

Comp Funct Genomics. 2003;4(3):346-50. doi: 10.1002/cfg.293.

Abstract

Two polymorphisms in the IL4 (G/C 3'-UTR) and IL5 (C-703T) genes were studied in a sample of families whose probands had atopic bronchial asthma (BA) (66 families, n = 183) and in a group of non-cognate individuals with the severe form of the disease (n = 34). The samples were collected from the Russian population in the city of Tomsk (Russia). Using the transmission/disequilibrium test (TDT), a significant association of allele C-703 IL5 with BA was established (TDT = 4.923, p = 0.007 +/- 0.0007). The analysis of 40 individuals with mild asthma and 49 patients with the severe form of the disease revealed a negative association of genotype GG IL4 (OR = 0.39, 95% CI = 0.15-0.99, p = 0.035), and also a trend towards a positive association of the GC IL4 genotype (OR = 2.52, 95% CI = 0.98-6.57, p = 0.052) with mild BA. There was a concordance of the clinical classification of BA severity with the 'genotype' (McNemar's chi(2) test with continuity correction constituted 0.03, d.f. = 1, p = 0.859). These results suggest that polymorphisms in the IL4 and IL5 genes contribute to the susceptibility to atopic BA and could determine the clinical course of the disease.

摘要

在一组先证者患有特应性支气管哮喘(BA)的家庭样本(66个家庭,n = 183)以及一组患有该疾病严重形式的非亲属个体(n = 34)中,研究了白细胞介素4(IL4,G/C 3'-UTR)和白细胞介素5(IL5,C-703T)基因中的两种多态性。样本取自俄罗斯托木斯克市的俄罗斯人群。使用传递/不平衡检验(TDT),确定了IL5基因的C-703等位基因与BA之间存在显著关联(TDT = 4.923,p = 0.007±0.0007)。对40名轻度哮喘患者和49名患有该疾病严重形式的患者进行分析,发现IL4基因的GG基因型存在负相关(OR = 0.39,95% CI = 0.15 - 0.99,p = 0.035),并且GC IL4基因型与轻度BA存在正相关趋势(OR = 2.52,95% CI = 0.98 - 6.57,p = 0.052)。BA严重程度的临床分类与“基因型”存在一致性(连续性校正的McNemar卡方检验为0.03,自由度= 1,p = 0.859)。这些结果表明,IL4和IL5基因中的多态性导致了对特应性BA的易感性,并可能决定该疾病的临床病程。

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