Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University, Xinjiang 832002, PR China.
Infect Genet Evol. 2010 Mar;10(2):268-72. doi: 10.1016/j.meegid.2009.11.015. Epub 2009 Dec 1.
Genetic variants of the genes encoding HIV-1 co-receptors and their ligands, CCR5-Delta32, CCR5m303A, CCR2-64I and SDF1-3'A, are implicated in the susceptibility to HIV-1 infection, and the prevalence of these mutations varies by ethnicity. However, little is known about their distribution in Uighurs.
This study aimed at characterizing the frequency of these HIV-related gene variants in a high-risk Uighur population.
A total of 251 HIV-1 seropositive and 238 seronegative high-risk Uighurs were recruited and their genotypes of CCR5-Delta32, CCR5m303A, CCR2-64I and SDF1-3'A were analyzed by PCR and PCR-ligase detection reaction (PCR-LDR).
The allelic frequency of CCR5-Delta32, CCR5m303A, CCR2-64I and SDF1-3'A was 4.40%, 2.66%, 25.66% and 57.36%, respectively, in this population. Apparently, the Uighur population has low frequency of CCR5-Delta32 and CCR5m303A, but high frequency of CCR2-64I and SDF1-3'A. While there was no significant difference in the frequency of CCR5-Delta32, CCR2-64I and SDF1-3' A between HIV-1 seropositive and seronegative groups the frequency of CCR5m303A in HIV-1 seropositive group was significantly higher than that in seronegative group (P=0.006, OR=3.982 and 95%CI 1.514-10.476).
Our data suggest that the CCR5-Delta32, CCR2-64I and SDF1-3'A variants may have limited effect on protecting from HIV-1 infection in Uighurs. Rather, the CCR5m303A may be associated with the risk for HIV-1 infection in high-risk Uighurs.
HIV-1 辅助受体和配体基因（CCR5-Delta32、CCR5m303A、CCR2-64I 和 SDF1-3'A）的遗传变异与 HIV-1 感染易感性有关，这些突变的流行程度因种族而异。然而，关于它们在维吾尔族中的分布情况知之甚少。
本研究旨在描述高危维吾尔族人群中这些与 HIV 相关基因变异的频率。
共招募了 251 名 HIV-1 血清阳性和 238 名血清阴性的高危维吾尔族人群，并通过聚合酶链反应（PCR）和 PCR-连接酶检测反应（PCR-LDR）分析了 CCR5-Delta32、CCR5m303A、CCR2-64I 和 SDF1-3'A 的基因型。
该人群中 CCR5-Delta32、CCR5m303A、CCR2-64I 和 SDF1-3'A 的等位基因频率分别为 4.40%、2.66%、25.66%和 57.36%。显然，维吾尔族人群 CCR5-Delta32 和 CCR5m303A 的频率较低，但 CCR2-64I 和 SDF1-3'A 的频率较高。虽然 HIV-1 血清阳性和阴性组之间 CCR5-Delta32、CCR2-64I 和 SDF1-3'A 的频率无显著差异，但 HIV-1 血清阳性组 CCR5m303A 的频率明显高于血清阴性组（P=0.006，OR=3.982，95%CI 1.514-10.476）。
我们的数据表明，CCR5-Delta32、CCR2-64I 和 SDF1-3'A 变异可能对维吾尔族人群免受 HIV-1 感染的保护作用有限。相反，CCR5m303A 可能与高危维吾尔族人群中 HIV-1 感染的风险相关。
