De Angelis F, Garzoli A, Battistini A, Iorio A, De Stefano G F
Department of Biology, University of Rome Tor Vergata, Rome, Italy.
Tissue Antigens. 2012 Feb;79(2):123-9. doi: 10.1111/j.1399-0039.2011.01811.x. Epub 2011 Nov 26.
The aim of this study is to explore human leukocyte antigen (HLA)-DQ variability in two populations (Cayapas Amerindians and Afro-Ecuadorians) who live near one another along the Cayapa River and who are exposed to the same environmental stresses, such as infection by Onchocerca volvulus. HLA-DQA1 and HLA-DQB1 of 149 unrelated individuals (74 Cayapas and 75 Afro-Ecuadorians) have been analyzed. HLA high-resolution molecular typing was performed by sequence-based typing, sequence-specific oligonucleotides hybridization and sequence-specific primer (SSP) amplification. The comparison between affected (cases) and unaffected people (controls) in both populations shows the key role of several HLA-DQA1 alleles in susceptibility and protection against onchocerciasis. In both populations, there is strong evidence related to the protective role of DQA10401 against onchocerciasis. Alleles HLA-DQA10102 and 0103 seem to represent risk factors in Afro-Ecuadorians, while HLA-DQA10301 is only a suggestive susceptibility allele in Cayapas. These findings represent new positive/negative associations with onchocerciasis in South America, whereas previous findings pertained only to African populations.
本研究旨在探究人类白细胞抗原（HLA）-DQ在两个相邻人群（卡亚帕美洲印第安人和非裔厄瓜多尔人）中的变异性。这两个人群生活在卡亚帕河沿岸，面临相同的环境压力，如感染盘尾丝虫。对149名无关个体（74名卡亚帕人和75名非裔厄瓜多尔人）的HLA-DQA1和HLA-DQB1进行了分析。通过基于序列的分型、序列特异性寡核苷酸杂交和序列特异性引物（SSP）扩增进行HLA高分辨率分子分型。对这两个人群中患病者（病例）和未患病者（对照）的比较表明，几个HLA-DQA1等位基因在盘尾丝虫病易感性和防护中起关键作用。在这两个人群中，有强有力的证据表明DQA10401对盘尾丝虫病具有防护作用。等位基因HLA-DQA10102和0103似乎是非裔厄瓜多尔人的危险因素，而HLA-DQA10301在卡亚帕人中只是一个提示性的易感等位基因。这些发现代表了南美洲与盘尾丝虫病新的正/负关联，而之前的发现仅涉及非洲人群。
