Philpott Sean, Weiser Barbara, Tarwater Patrick, Vermund Sten H, Kleeberger Cynthia A, Gange Stephen J, Anastos Kathryn, Cohen Mardge, Greenblatt Ruth M, Kovacs Andrea, Minkoff Howard, Young Mary A, Miotti Paolo, Dupuis Michelle, Chen Chih-Hsiung, Burger Harold
Wadsworth Center, New York State Department of Health, Albany, New York 12208, USA.
J Infect Dis. 2003 Feb 15;187(4):569-75. doi: 10.1086/367995. Epub 2003 Jan 29.
The human gene for CC chemokine receptor 5, a coreceptor for human immunodeficiency virus type 1 (HIV-1), affects susceptibility to infection. Most studies of predominantly male cohorts found that individuals carrying a homozygous deleted form of the gene, Delta 32, were protected against transmission, but protection did not extend to Delta 32 heterozygotes. The role played by this mutation in HIV-1 transmission to women was studied in 2605 participants in the Women's Interagency HIV Study. The Delta 32 gene frequency was 0.026 for HIV-1-seropositive women and 0.040 for HIV-1-seronegative women, and statistical analyses showed that Delta 32 heterozygotes were significantly less likely to be infected (odds ratio, 0.63 [95% confidence interval, 0.44-0.90]). The CCR5 Delta 32 heterozygous genotype may confer partial protection against HIV-1 infection in women. Because Delta 32 is rare in Africans and Asians, it seems plausible that differential genetic susceptibility, in addition to social and behavioral factors, may contribute to the rapid heterosexual spread of HIV-1 in Africa and Asia.
人类C-C趋化因子受体5基因是1型人类免疫缺陷病毒（HIV-1）的共受体，它会影响感染易感性。大多数以男性为主的队列研究发现，携带该基因纯合缺失形式（Delta 32）的个体可免受病毒传播影响，但这种保护作用并不适用于Delta 32杂合子。在女性机构间HIV研究的2605名参与者中，研究了这种突变在HIV-1传播给女性过程中所起的作用。HIV-1血清阳性女性的Delta 32基因频率为0.026，HIV-1血清阴性女性的该基因频率为0.040，统计分析表明，Delta 32杂合子感染的可能性显著降低（优势比为0.63 [95%置信区间为0.44 - 0.90]）。CCR5 Delta 32杂合基因型可能为女性提供部分保护，使其免受HIV-1感染。由于Delta 32在非洲人和亚洲人中较为罕见，除社会和行为因素外，不同的遗传易感性可能导致HIV-1在非洲和亚洲通过异性传播迅速蔓延，这似乎是合理的。
