PMID- 16284526 OWN - NLM STAT- MEDLINE DCOM- 20060123 LR - 20221207 IS - 1525-4135 (Print) IS - 1525-4135 (Linking) VI - 40 IP - 5 DP - 2005 Dec 15 TI - Risk for HIV-1 infection associated with a common CXCL12 (SDF1) polymorphism and CXCR4 variation in an African population. PG - 521-6 AB - CXC chemokine ligand 12 (CXCL12), or stromal cell-derived factor 1 (SDF1), is the only known natural ligand for the HIV-1 coreceptor, CXC chemokine receptor 4 (CXCR4). A single nucleotide polymorphism (SNP) in the CXCL12 gene (SDF1-3'A) has been associated with disease progression to AIDS in some studies, but not others. Mutations in the CXCR4 gene are generally rare and have not been implicated in HIV-1/AIDS pathogenesis. This study analyzed the SDF1-3'A SNP and performed mutation screening for polymorphic markers in the CXCR4 gene to determine the presence or absence of significant associations with susceptibility to HIV-1 infection. The study consisted of 257 HIV-1-seropositive patients and 113 HIV-1-seronegative controls representing a sub-Saharan African population belonging to the Xhosa ethnic group of South Africa. The SDF1-3'A SNP was associated with an increased risk for HIV-1 infection (P = 0.0319) whereas no significant association was observed between the occurrence of the SDF1-3'A SNP and increased or decreased plasma levels of CXCL12. Comprehensive mutation analysis of the CXCR4 gene confirmed a high degree of genetic conservation within the coding region of this ancient population. FAU - Petersen, Desiree C AU - Petersen DC AD - Department of Medical Virology, University of Stellenbosch, Tygerberg Medical School, South Africa. FAU - Glashoff, Richard H AU - Glashoff RH FAU - Shrestha, Sadeep AU - Shrestha S FAU - Bergeron, Julie AU - Bergeron J FAU - Laten, Annette AU - Laten A FAU - Gold, Bert AU - Gold B FAU - van Rensburg, Estrelita Janse AU - van Rensburg EJ FAU - Dean, Michael AU - Dean M FAU - Hayes, Vanessa M AU - Hayes VM LA - eng SI - OMIM/162643 SI - OMIM/600835 GR - N01CO12400/CA/NCI NIH HHS/United States GR - N01-CO-12400/CO/NCI NIH HHS/United States GR - Z01 BC005652-15/BC/NCI NIH HHS/United States GR - Intramural NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, N.I.H., Intramural PT - Research Support, Non-U.S. Gov't PL - United States TA - J Acquir Immune Defic Syndr JT - Journal of acquired immune deficiency syndromes (1999) JID - 100892005 RN - 0 (CXCL12 protein, human) RN - 0 (Chemokine CXCL12) RN - 0 (Chemokines, CXC) RN - 0 (Receptors, CXCR4) SB - IM MH - *Black People MH - Chemokine CXCL12 MH - Chemokines, CXC/*genetics MH - *Genetic Variation MH - Genotype MH - HIV Infections/ethnology/*genetics/physiopathology MH - HIV-1/pathogenicity MH - Humans MH - *Polymorphism, Single Nucleotide MH - Receptors, CXCR4/*genetics MH - Risk Factors MH - South Africa/epidemiology PMC - PMC1369993 MID - NIHMS8262 EDAT- 2005/11/15 09:00 MHDA- 2006/01/24 09:00 PMCR- 2008/01/25 CRDT- 2005/11/15 09:00 PHST- 2005/11/15 09:00 [pubmed] PHST- 2006/01/24 09:00 [medline] PHST- 2005/11/15 09:00 [entrez] PHST- 2008/01/25 00:00 [pmc-release] AID - 00126334-200512150-00003 [pii] AID - 10.1097/01.qai.0000186360.42834.28 [doi] PST - ppublish SO - J Acquir Immune Defic Syndr. 2005 Dec 15;40(5):521-6. doi: 10.1097/01.qai.0000186360.42834.28.