Nakajima T, Kaur G, Mehra N, Kimura A
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Cytogenet Genome Res. 2008;123(1-4):156-60. doi: 10.1159/000184703. Epub 2009 Mar 11.
Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a natural ligand for HIV-1 co-receptor CCR5, is a potent HIV-1-suppressive chemokine. CCL3L1 copy number variation (CNV) is tightly linked to HIV-1/AIDS susceptibility, and a lower copy number is associated with an enhanced risk for acquiring HIV-1 and also progressing more rapidly to AIDS and death. In this article we review recent studies to evaluate the association between the CCL3L1 copy number and HIV-1/AIDS susceptibility.
人类基因组中基因拷贝数的变异日益被认为是表型变异的一个遗传因素。人类CC趋化因子配体3样1基因（CCL3L1）位于人类染色体17q11.2，由于存在片段重复热点，其拷贝数高度可变。CCL3L1是HIV-1共受体CCR5的天然配体，是一种有效的HIV-1抑制趋化因子。CCL3L1拷贝数变异（CNV）与HIV-1/AIDS易感性紧密相关，较低的拷贝数与感染HIV-1的风险增加以及更快进展为AIDS和死亡相关。在本文中，我们综述了近期研究以评估CCL3L1拷贝数与HIV-1/AIDS易感性之间的关联。
