遗传祖先对阿根廷布宜诺斯艾利斯全球人群干扰素-λ4 rs12979860多态性分布的影响

F. Mansilla, S. Avena, C. Dejean, C. Turco, A. Capozzo
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引用次数: 0

摘要

人干扰素-λ4是一种参与早期抗病毒反应的细胞因子。引人注目的是,一些抗病毒活性降低的等位基因变异降低了对病毒感染的易感性,因此它们在整个人属的进化史上都遭受了积极的选择压力。ifn - λ4基因座(rs12979860, T - C)的内含子变异是HCV和其他病毒应答的主要基因决定因素之一。rs12979860-C等位基因在非洲、欧洲和美洲原住民人群中有不同的频率,尽管南美的数据很少。在这里,我们首次在阿根廷布宜诺斯艾利斯的全球人群样本中表征rs12979860基因型的分布,评估其与欧洲、美洲原住民和非洲亲本成分的关联。rs12979860基因型采用PCR-RFLP对来自布宜诺斯艾利斯血库(n=96)供者的DNA样本进行检测,这些供者的遗传个体祖先(欧洲人、非洲人或美洲原住民)先前已使用分子标记确定。rs12979860-CC、CT和TT的分布分别为29.17%、50.0%和20.83%。在携带T等位基因的供者中,具有强烈欧洲贡献的供者的CC频率显著增加,而美洲土著成分的影响更大。在布宜诺斯艾利斯的全球人口样本中,美洲原住民和欧洲人的基因成分与rs12979860的分布有关,而与非洲血统没有直接关系。考虑到干扰素在抗病毒反应中的关键作用,我们的结果可能有助于与传染病相关的生物人类学和免疫遗传学研究。关键词:祖先,布宜诺斯艾利斯,ifn - λ4多态性,rs12979860分布。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
IMPACT OF GENETIC ANCESTRY ON THE DISTRIBUTION OF INTERFERON-λ4 RS12979860 POLYMORPHISM IN A GLOBAL POPULATION OF BUENOS AIRES, ARGENTINA
Human interferon-λ4 is a cytokine involved in early stages of antiviral responses. Strikingly, some allelic variants with diminished antiviral activity reduce the susceptibility to viral infections, thus they would have suffered a positive selection pressure throughout the evolutionary history of the genus Homo. An intronic variant within the IFNλ4 locus (rs12979860, T˃C) emerged as one of the main gene determinants of the response to HCV and other viruses. The rs12979860-C allele has a differential frequency in African, European and Native American populations, though South American data are scarce. Here we characterize for the first time the distribution of rs12979860 genotypes in a sample of the global population of Buenos Aires, Argentina, assessing its association with European, Native American and African parental components. The rs12979860 genotypes were determined by PCR-RFLP in DNA samples from donors of a blood banks of Buenos Aires (n=96), whose genetic individual ancestry (European, African or Native American) had been previously determined using molecular markers. The distribution of rs12979860-CC, CT and TT was 29.17%, 50.0% and 20.83%, respectively. A significant increase in the frequency of CC among donors with a strong European contribution and a greater impact of the Native American component among donors carrying the T allele were observed. Native American and European components were associated to the rs12979860 distribution in a sample of the global population of Buenos Aires, while no differences were directly attributable to the African ancestry. Considering interferon´s key role in antiviral responses, our results may contribute to both bioanthropological and immunogenetic studies associated with infectious diseases. Key words: ancestry, Buenos Aires, IFNλ4 polymorphism, rs12979860 distribution.
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