A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor alpha (IL4RA) gene.
A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor alpha (IL4RA) gene.
复制标题
白介素 4 受体 α (IL4RA) 基因单核苷酸多态性的群体遗传学研究。
DOI：
10.1038/sj.gene.6363746
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Ober,C
中科院分区：
文献类型：
--
作者：
Wu,X;DiRienzo,A;Ober,C
白细胞介素4 （IL4）在辅助性T 2 （Th2）免疫应答中起关键作用。在这里，我们报道了一项在非裔美国人、欧裔美国人和东亚人这三个种族中编码IL4受体α-链（IL4RA）基因变异的群体遗传学研究。对每组12例个体的IL4RA基因外显子12的2941 bp区域进行测序。在联合样本中共鉴定出24个单核苷酸多态性（snp）。外显子12编码区的遗传变异比其他已报道的基因高2 ~ 3倍。我们观察到与进化中立预期的显著背离，这表明自然选择可能影响了该基因的进化。我们提出了一个模型，其中过去的病原体选择导致了西方社会中特应性疾病的日益流行。
Interleukin 4 (IL4) plays a critical role in T helper 2 (Th2) immune responses. Here we report a population genetics study of variation in the gene encoding the α-chain of the IL4 receptor (IL4RA) in three ethnic groups: African Americans, European Americans and East Asians. A 2941-bp region spanning exon 12 of IL4RA gene was sequenced in 12 individuals from each group. A total of 24 single nucleotide polymorphisms (SNPs) were identified in the combined sample. The genetic variation of the coding region of exon 12 is two to three times higher than in other reported genes. A significant departure from the expectation of evolutionary neutrality was observed, suggesting that natural selection may have influenced the evolution of this gene. We propose a model in which past selection by pathogens contributed to the increasing prevalence of atopic disorders in Western societies.