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健康波斯尼亚克族人群中CCR5Δ32等位基因的频率。

Frequency of CCR5Δ32 allele in healthy Bosniak population.

作者信息

Adler Grażyna, Valjevac Amina, Skonieczna-Żydecka Karolina, Mackic-Djurovic Mirela, Parczewski Miłosz, Urbańska Anna, Salkic Nermin Nusret

机构信息

The Department of Gerontobiology, Pomeranian Medical University, ul. Żołnierska 48, 71-210 Szczecin, Poland.

出版信息

Bosn J Basic Med Sci. 2014 Aug 28;14(3):150-4. doi: 10.17305/bjbms.2014.3.102.

Abstract

Recent evidence has demonstrated the role of CCR5Δ32 in a variety of human diseases: from infectious and inflammatory diseases to cancer. Several studies have confirmed that genetic variants in chemokine receptor CCR5 gene are correlated with susceptibility and resistance to HIV infection. A 32-nucleotide deletion within the CCR5 reading frame is associated with decreased susceptibility to HIV acquisition and a slower progression to AIDS. Mean frequency of CCR5Δ32 allele in Europe is approximately 10%. The highest allele frequency is observed among Nordic populations (about 12%) and lower in the regions of Southeast Mediterranean (about 5%). Although the frequency of CCR5Δ32 was determined in numerous European populations, there is a lack of studies on this variant in the Bosnia and Hercegovina population. Therefore, the aim of our study was to assess the frequency of CCR5Δ32 allele in the cohort of Bosniaks and compare the results with European reports. CCR5Δ32 was detected by sequence-specific PCR in a sample of 100 healthy subjects from Bosnia and Herzegovina (DNA collected 2011-2013). Mean age of the cohort being 58.8 (± 10.7) years, with 82% of women. We identified 17 heterozygotes and one mutant homozygote in study group, with mean ∆32 allele frequency of 9.5%. CCR5∆32 allele frequency among Bosniaks is comparable to that found in Caucasian populations and follows the pattern of the north-southern gradient observed for Europe. Further studies on larger cohorts with adequate female-to-male ratio are necessary.

摘要

最近的证据表明CCR5Δ32在多种人类疾病中发挥作用:从感染性和炎症性疾病到癌症。多项研究证实,趋化因子受体CCR5基因的遗传变异与HIV感染的易感性和抗性相关。CCR5阅读框内32个核苷酸的缺失与HIV感染易感性降低以及艾滋病进展缓慢有关。欧洲CCR5Δ32等位基因的平均频率约为10%。在北欧人群中观察到最高的等位基因频率(约12%),而在东南地中海地区较低(约5%)。尽管在众多欧洲人群中测定了CCR5Δ32的频率,但在波斯尼亚和黑塞哥维那人群中缺乏对该变异的研究。因此,我们研究的目的是评估波斯尼亚克族人群中CCR5Δ32等位基因的频率,并将结果与欧洲的报告进行比较。通过序列特异性PCR在来自波斯尼亚和黑塞哥维那的100名健康受试者样本中检测到CCR5Δ32(2011 - 2013年收集的DNA)。该队列的平均年龄为58.8(±10.7)岁,女性占82%。我们在研究组中鉴定出17名杂合子和1名突变纯合子,平均Δ32等位基因频率为9.5%。波斯尼亚克族人群中CCR5∆32等位基因频率与高加索人群中发现的频率相当,并且遵循欧洲观察到的南北梯度模式。有必要对具有适当男女比例的更大队列进行进一步研究。

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