Hosseini-Farahabadi Sara, Tavakkol-Afshari Jalil, Rafatpanah Houshang, Farid Hosseini Reza, Khaje Daluei Mohammad
Department of Immunology, Bu-Ali Research Institute, Mashhad University of Medical Sciences. Mashhad. Iran.
Iran J Allergy Asthma Immunol. 2007 Mar;6(1):9-14.
Allergic asthma is a multifactorial disease, influenced by genetic and environmental factors. Recent family-based studies have revealed evidence for linkage of human chromosomes 5q31-33, 12q15-24, 11q13 and 15q23.6 as regions likely to contain genes related to asthma. Among the candidate genes in these regions are the genes encoding for human interleukin-4, interleukin-13 and interleukin-16. To evaluate this linkage, we examined an Iranian population of patients with asthma. A total of 30 patients with allergic asthma and 50 normal subjects were studied. Allergic asthma was confirmed using skin prick test and spirometry. DNA was extracted from blood cells and IL-4 (-590C>T), IL-13 (R130Q) and IL-16 (-295T>C) polymorphisms were determined by PCR-RFLP method. Out of 30 patients with allergic asthma, the following genotypes for IL-4, IL-13 and IL-16 cytokines were found: IL-4 genotypes consisted of 17 (56.7%) CC, 8 (26.7%) CT and 5 (16.7%) TT; IL-13 genotypes consisted of 11 (36.7%) GG, 13 (43.3%) GA and 6 (20%) AA; IL-16 genotypes consisted of 23 (76.7%) TT and 7 (23.3%) CT. No patient showed CC genotype for IL-16. A higher proportion of case subjects with the C allele for the IL-4, G allele for the IL-13 and T allele for the IL-16 polymorphisms was found compared with the T, A and C alleles, respectively. These results suggest an influence of genetic variability at the promoter of IL-4 gene (-590C>T) and a coding region of IL-13 gene (R130Q) on the occurrence of allergic asthma and no relationship between IL-16 promoter polymorphism (-295T>C) and this disease.
过敏性哮喘是一种受遗传和环境因素影响的多因素疾病。最近基于家系的研究已揭示出人类染色体5q31 - 33、12q15 - 24、11q13和15q23.6存在连锁证据,这些区域可能包含与哮喘相关的基因。这些区域中的候选基因包括编码人类白细胞介素 - 4、白细胞介素 - 13和白细胞介素 - 16的基因。为评估这种连锁关系,我们对一组伊朗哮喘患者群体进行了研究。共研究了30例过敏性哮喘患者和50名正常受试者。通过皮肤点刺试验和肺功能测定确诊过敏性哮喘。从血细胞中提取DNA,并采用聚合酶链反应 - 限制性片段长度多态性(PCR - RFLP)方法测定白细胞介素 - 4(-590C>T)、白细胞介素 - 13(R130Q)和白细胞介素 - 16(-295T>C)的多态性。在30例过敏性哮喘患者中,发现白细胞介素 - 4、白细胞介素 - 13和白细胞介素 - 16细胞因子的以下基因型:白细胞介素 - 4基因型包括17例(56.7%)CC、8例(26.7%)CT和5例(16.7%)TT;白细胞介素 - 13基因型包括11例(36.7%)GG、13例(43.3%)GA和6例(20%)AA;白细胞介素 - 16基因型包括23例(76.7%)TT和7例(23.3%)CT。没有患者显示白细胞介素 - 16的CC基因型。与白细胞介素 - 4的T等位基因、白细胞介素 - 13的A等位基因和白细胞介素 - 16的C等位基因相比,发现携带白细胞介素 - 4的C等位基因、白细胞介素 - 13的G等位基因和白细胞介素 - 16多态性的T等位基因的病例受试者比例更高。这些结果表明白细胞介素 - 4基因启动子(-590C>T)和白细胞介素 - 13基因编码区(R130Q)的遗传变异性对过敏性哮喘的发生有影响,而白细胞介素 - 16启动子多态性(-295T>C)与该疾病无关联。