Association of single nucleotide polymorphisms in interleukin 12 (IL-12A and -B) with asthma in a Chinese population
Association of single nucleotide polymorphisms in interleukin 12 (IL-12A and -B) with asthma in a Chinese population
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DOI：
10.1016/j.humimm.2011.03.018
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发表时间：
2011-07-01
期刊：
影响因子：
2.7
通讯作者：
Zhang, Lin
中科院分区：
文献类型：
--
作者：
Chen, Tianyi;Liang, Weibo;Zhang, Lin
越来越多的证据表明，遗传变异可能导致免疫失调和对非感染性炎症疾病的易感性。细胞因子，包括白细胞介素 12 (IL-12)，在免疫系统的调节中发挥着关键作用。本研究的目的是调查 IL-12A 和 IL-128 的单核苷酸多态性 (SNP) 是否与中国人群的哮喘相关。通过聚合酶链反应限制性片段长度多态性方法和DNA测序分析确定了197名哮喘患者和369名对照者的基因型特征。 IL-12A rs568408 的基因型和等位基因频率在病例和对照之间表现出显着差异 (p < 0.001)。与 AA 基因型相比，rs3212227 的 AC 基因型与哮喘风险显着降低相关（p = 0.036）。与携带所有其他基因型的受试者相比，在两个位点携带组合基因型（rs568408 AG 和 rs3212227 AC/CC）的受试者的哮喘风险增加 2.05 倍（p = 0.001）。相比之下，与携带 rs568408GG 和 rs3212227AA 组合基因型的个体相比，携带 rs568408 GG 和 rs3212227 AC/CC 组合基因型的个体与哮喘风险显着降低相关 (p = 0.009)。病例和对照之间的 rs2243115 没有显着差异。这些结果表明，IL-12A rs568404 和 IL-128 rs3212227 中的 SNP 可能单独或共同增加中国人群的哮喘风险。 (C) 2011 年美国组织相容性和免疫遗传学学会。由爱思唯尔公司出版。保留所有权利。
Increasing evidence has indicated that genetic variants may contribute to immune dysregulation and susceptibility to noninfectious inflammatory diseases. Cytokines, including interleukin 12 (IL-12), play a key role in the regulation of the immune system. The aim of this study was to investigate whether single nucleotide polymorphisms (SNP) in IL-12A and IL-128 were associated with asthma in a Chinese population. Genotype characteristics were determined in 197 asthma patients and 369 controls by the polymerase chain reaction restriction fragment length polymorphism method and DNA sequencing assay. The genotype and allele frequencies of IL-12A rs568408 demonstrated significant differences between cases and controls (p < 0.001). The AC genotype of rs3212227 was associated with a significantly decreased risk of asthma compared with the AA genotype (p = 0.036). The subjects carrying combined genotypes (rs568408 AG and rs3212227 AC/CC) at both loci had a 2.05-fold increased asthma risk compared with those carrying all other genotypes (p = 0.001). In contrast, individuals carrying combined genotypes of rs568408 GG and rs3212227 AC/CC were associated with a significantly decreased risk of asthma compared with those carrying the combined genotypes of rs568408GG and rs3212227AA (p = 0.009). No significant difference was reported for rs2243115 between cases and controls. These results suggest that the SNPs in IL-12A rs568404 and IL-128 rs3212227 may individually and jointly contribute to the risk of asthma in a Chinese population. (C) 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.