Zawicki Przemysław, Witas Henryk W
Department of Molecular Biology, Chair of Oncology, Medical University of Łódź, Łódź, Poland.
Infect Genet Evol. 2008 Mar;8(2):146-51. doi: 10.1016/j.meegid.2007.11.003. Epub 2007 Nov 19.
CCR5-Delta32 is the mutation in the chemokine receptor CCR5 that gives its homozygous carriers nearly complete protections from HIV-1 infection. Restricted almost exclusively to Europe, the mutation is thought to have originated in the continent and risen in frequency to the present-day value of approximately 10% due to a selective advantage it gave its carriers. The mutation bearing allele was initially calculated to be approximately 1000 years old and pandemic diseases, such as Bubonic Plague or smallpox were postulated to have selected it. However, new reports appear, that question these hypotheses. Data from ancient DNA (aDNA) studies prove the mutation to be much older, as suggested by calculations based on newer genetic maps. In order to investigate if the plagues of the last millennium selected the allele, and add to the discussion on CCR5-Delta32 origin and age, we searched for the mutation in aDNA isolated from individuals whose skeletal remains were collected at archaeological sites in Poland, dated back to 11-14th centuries. The calculated mean frequency of the allele in medieval Poland (5.06% as compared to contemporary 10.26%), implies its longer than previously believed presence in European populations, and suggests that historic pandemics had little effect on its present-day frequency.
CCR5-Δ32是趋化因子受体CCR5中的一种突变,其纯合携带者几乎能完全抵御HIV-1感染。这种突变几乎仅在欧洲出现,据信起源于该大陆,并因其给携带者带来的选择优势,其频率上升至目前约10%的水平。携带该突变的等位基因最初计算得出约有1000年历史,有人推测诸如黑死病或天花等大流行病对其进行了选择。然而,新的报告对此类假设提出了质疑。古DNA(aDNA)研究的数据证明该突变的历史要长得多,基于更新的基因图谱计算也表明了这一点。为了探究过去一千年的瘟疫是否选择了该等位基因,并加入关于CCR5-Δ32起源和年代的讨论,我们在从波兰考古遗址收集的、可追溯到11至14世纪的个体骨骼遗骸中分离出的aDNA中寻找这种突变。中世纪波兰该等位基因的计算平均频率(与当代的10.26%相比为5.06%),意味着它在欧洲人群中的存在时间比之前认为的更长,并表明历史上的大流行病对其当前频率影响不大。