Freidin Maxim B, Kobyakova Olga S, Ogorodova Ludmila M, Puzyrev Valery P
Population Genetics Laboratory, Research Institute for Medical Genetics, 10 Nab. r. Ushaiky Ave., Tomsk 634050, Russia.
Comp Funct Genomics. 2003;4(3):346-50. doi: 10.1002/cfg.293.
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.
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。