Pordel Safoora, Nemati Kazem, Karimi Mohammad Hossein, Doroudchi Mehrnoosh
Dept. of Immunology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Shiraz Blood Transfusion Center, Shiraz, Iran.
Iran J Public Health. 2018 Mar;47(3):397-406.
In the human evolutionary history, Single Nucleotide Polymorphism (SNP) frequencies are valuable in terms of finding connections between different populations. Due to the pronounced role of the immune system in combating pathogens and environmental stressors, polymorphisms in the immune genes are subject to selection pressure of the diseases as well. The functional polymorphisms in NF-κB1 promoter (-94 ins/del) are associated with different diseases; therefore, we aimed to establish the frequencies of NF-κB1 rs28362491 alleles in a population of Southwestern Iranians in comparison with the world populations.
We assessed the polymorphism of -94 ATTG ins/del (rs28362491) in 201 Iranian healthy blood donors from Fars Province, central Iran in a one year period between 2015 and 2016 by PCR-RFLP method using DNA extracted from peripheral blood mononuclear cells.
The frequency of ins/ins homozygote genotype was found to be 46.97%. The frequency of heterozygote individuals was 42.42% and the percentage of del/del homozygote genotype was 10.61%. We observed a genetic similarity based on the genotype frequencies of NF-κB1 -94 ins/del ATTG polymorphism between our sample of Iranians with American Jewish, Turkish, American non-Jewish, Chinese-Uyghurs and Germans.
The results confirmed genetic interrelation of Iranians with some ancient neighbors and their admixture with countries along the Silk Road. We suggest that mapping the distribution of NF-κB1-94 ATTG ins/del along with HLA genes may help to better define the relations between human populations and design population-specific vaccines for pathogens with a high rate of variation.
在人类进化史上，单核苷酸多态性（SNP）频率对于发现不同人群之间的联系具有重要价值。由于免疫系统在对抗病原体和环境应激源方面发挥着显著作用，免疫基因中的多态性也受到疾病选择压力的影响。NF-κB1启动子（-94插入/缺失）中的功能性多态性与不同疾病相关；因此，我们旨在确定伊朗西南部人群中NF-κB1 rs28362491等位基因的频率，并与世界其他人群进行比较。
在2015年至2016年的一年时间里，我们采用PCR-RFLP方法，从伊朗中部法尔斯省的201名健康献血者外周血单个核细胞中提取DNA，评估-94 ATTG插入/缺失（rs28362491）的多态性。
发现插入/插入纯合子基因型的频率为46.97%。杂合子个体的频率为42.42%，缺失/缺失纯合子基因型的百分比为10.61%。基于NF-κB1 -94插入/缺失ATTG多态性的基因型频率，我们观察到我们的伊朗样本与美国犹太人、土耳其人、美国非犹太人、中国维吾尔族人和德国人之间存在遗传相似性。
结果证实了伊朗人与一些古代邻国之间的遗传关联以及他们与丝绸之路沿线国家的混合情况。我们建议，绘制NF-κB1-94 ATTG插入/缺失与HLA基因的分布图，可能有助于更好地界定人群之间的关系，并为变异率高的病原体设计针对特定人群的疫苗。
