Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1

Science

Volumn 287, Issue 5461, 2000, Pages 2274-2277

  Faure, Sophie ^a   Meyer, Laurence ^a   Costagliola, Dominique ^a   Vaneensberghe, Céline ^a   Genin, Emmanuelle ^a   Autran, Brigitte ^a   Delfraissy, Jean François ^a   McDermott, David H ^a   Murphy, Philip M ^a   Debré, Patrice ^a   Théodorou, Loannis ^a   Combadière, Christophe ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CD4 ANTIGEN; CHEMOKINE RECEPTOR; FRACTALKINE; ISOLEUCINE; METHIONINE; NUCLEOTIDE;

ACQUIRED IMMUNE DEFICIENCY SYNDROME; ARTICLE; BINDING AFFINITY; HAPLOTYPE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; INFECTION RISK; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SINGLE STRAND CONFORMATION POLYMORPHISM;

ACQUIRED IMMUNODEFICIENCY SYNDROME; CASE-CONTROL STUDIES; CHEMOKINES, CX3C; CHEMOKINES, CXC; CHROMOSOMES, HUMAN, PAIR 3; COHORT STUDIES; DISEASE PROGRESSION; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; HAPLOTYPES; HIV; HIV INFECTIONS; HOMOZYGOTE; HUMANS; LEUKOCYTES, MONONUCLEAR; LINKAGE DISEQUILIBRIUM; MEMBRANE PROTEINS; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CYTOKINE; RECEPTORS, HIV; SURVIVAL ANALYSIS; VARIATION (GENETICS);

HUMAN IMMUNODEFICIENCY VIRUS;

EID: 0034708829     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.287.5461.2274     Document Type: Article

References (41)

1. R. Horuk, Immunol. Today 20, 89 (1999);
2. A. S. Fauci, Nature 384, 539 (1996);
3. J. S. Cairns and M. P. D'Souza, Nat. Med. 4, 563 (1998).
4. M. Dean et al., Science 273, 1856 (1996); R. Liu et al., Cell 86, 367 (1996).
5. M. Dean et al., Science 273, 1856 (1996); R. Liu et al., Cell 86, 367 (1996).
6. M. Samson et al., Nature 382, 722 (1996).
7. Y. Huang et al., Nat. Med. 11, 1240 (1996).
8. T. Dragic et al., Nature 381, 667 (1996).
9. P. A. Zimmerman et al., Mol. Med. 3, 23 (1997).
10. N. L. Michael et al., Nat. Med. 3, 338 (1997).
11. G. T. Nguyen et al., J. AIDS 22, 75 (1999).
12. D. H. McDermott et al., Lancet 352, 866 (1998); M. P. Martin et al., Science 282, 1907 (1998).
13. D. H. McDermott et al., Lancet 352, 866 (1998); M. P. Martin et al., Science 282, 1907 (1998).
14. N. L. Michael, Curr. Opin. Immunol. 11, 466 (1999); E. A. Berger et al., Annu. Rev. Immunol. 17, 657 (1999).
15. N. L. Michael, Curr. Opin. Immunol. 11, 466 (1999); E. A. Berger et al., Annu. Rev. Immunol. 17, 657 (1999).
16. N. L. Michael et al., Nat. Med. 3, 1160 (1997); L. G. Kostrikis et al., Nat. Med. 4, 350 (1998); M. W. Smith et al., Science 277, 959 (1997).
17. N. L. Michael et al., Nat. Med. 3, 1160 (1997); L. G. Kostrikis et al., Nat. Med. 4, 350 (1998); M. W. Smith et al., Science 277, 959 (1997).
18. N. L. Michael et al., Nat. Med. 3, 1160 (1997); L. G. Kostrikis et al., Nat. Med. 4, 350 (1998); M. W. Smith et al., Science 277, 959 (1997).
19. C. Winkler et al., Science 279, 389 (1998).
20. J. Rucker et al., J. Virol. 71, 8999 (1997); J. D. Reeves et al., Virology 231, 130 (1997).
21. J. Rucker et al., J. Virol. 71, 8999 (1997); J. D. Reeves et al., Virology 231, 130 (1997).
22. C. Combadiere et al., J. Biol. Chem. 273, 23799 (1998).
23. J. K. Harrison et al., Proc. Natl. Acad. Sci. U.S.A. 95, 10896 (1998); C. Combadiere et al., J. Leukocyte Biol. 60, 147 (1996).
24. J. K. Harrison et al., Proc. Natl. Acad. Sci. U.S.A. 95, 10896 (1998); C. Combadiere et al., J. Leukocyte Biol. 60, 147 (1996).
25. T. Imai et al., Cell 91, 521 (1997).
26. A. M. Fong et al., J. Exp. Med. 188, 1413 (1998).
27. 3CR1 open reading frame. Five fluorescent pairs were used to generate five overlapping segments of 200- to 350-bp DNA fragments: V1 forward and V1 reverse (5′-GGAGGCCCTTTTCATTTATCA-3′), V2 forward (5′-AACAGCAAGAAGCCCAAGAGT-3′) and V2 reverse (5′-CGCCTAGGCT GATGGTGAC-3′), V3 forward (5′-GCCGCCAACTCCATGAAC-3′) and V3 reverse (5′-CAGGAAAACAGCGTCTGGAT-3′), V4 forward (5′-GAGGTCCTCCAGGAAATC TGGCCCGTG-3′) and V4 reverse (5′-GGCCAGCCTCAGATCCT-TCTT-3′), V5 forward (5′-CTCTATGACTTCTTTC-CCAGTTGT-3′) and V5 reverse. The amplification products were diluted in a formamide solution, denatured at 95°C for 5 min, and loaded on mutation detection gel solution from FMC Bioproducts. Gels were run on an ABI PRISM 377 DNA sequencer (Perkin-Elmer, Courtaboeuf, France) under the following conditions: filter C, 30°C, 4000 V, 60 mA, 60 W, 18 hours. The results were analyzed with Genotyper software.
28. M. Magierowska et al., Microbes Infect. 2, 123 (1999).
29. Amplification reactions were performed with the following primers: V4 forward and V5 reverse under the same conditions as the initial amplification reaction. The amplification products were digested 2 hours at 55°C with the Bsm B1 enzyme (New England Biolabs, Ozyme, Saint Quentin en Yvelines, France) and 2 hours at 37°C with Psp 1406 1 (Boehringer Mannheim, Meylan, France), which, respectively, allow detection of mutations V2491 and T280M.
30. M. Magierowska et al., Blood 93, 936 (1999); L. Meyer et al., AIDS 11, F73 (1997); I. Theodorou, L. Meyer, M. Magierowska, C Katlama, C. Rouzioux, Lancet 349, 1219 (1997). Only French Caucasian subjects were studied: 63 were from the ALT cohort, 73 were from the IMMUNOCO cohort, 426 were from the SEROCO cohort, and 78 were uninfected blood donors. Human genomic DNA was purified from whole blood with a DNA purification kit (Q|Aamp DNA Blood minikit, Qiagen, Courtaboeuf, France).
31. M. Magierowska et al., Blood 93, 936 (1999); L. Meyer et al., AIDS 11, F73 (1997); I. Theodorou, L. Meyer, M. Magierowska, C Katlama, C. Rouzioux, Lancet 349, 1219 (1997). Only French Caucasian subjects were studied: 63 were from the ALT cohort, 73 were from the IMMUNOCO cohort, 426 were from the SEROCO cohort, and 78 were uninfected blood donors. Human genomic DNA was purified from whole blood with a DNA purification kit (Q|Aamp DNA Blood minikit, Qiagen, Courtaboeuf, France).
32. M. Magierowska et al., Blood 93, 936 (1999); L. Meyer et al., AIDS 11, F73 (1997); I. Theodorou, L. Meyer, M. Magierowska, C Katlama, C. Rouzioux, Lancet 349, 1219 (1997). Only French Caucasian subjects were studied: 63 were from the ALT cohort, 73 were from the IMMUNOCO cohort, 426 were from the SEROCO cohort, and 78 were uninfected blood donors. Human genomic DNA was purified from whole blood with a DNA purification kit (Q|Aamp DNA Blood minikit, Qiagen, Courtaboeuf, France).
33. Haplotypes were inferred from two observations. First, all individuals homozygous for M280 were also homozygous for 1249; second, when cloned products from 10 M280 heterozygous individuals were being sequenced, the chromosome bearing M280 was always bearing 1 at position 249. Haplotype frequencies were derived from genotypes using the EM algorithm as implemented in the EH program; X. Xie et al., Am. J. Hum. Genet. Suppl. 53, 1107 (1993). The likelihood ratio test for linkage disequilibrium was done with this same program.
34. 2 test or an exact test when sample size were too small: S. Guo and E. Thompson, Biometrics 48, 361 (1992).
35. 3CR1 genotypes, taking into account age and presence of the CCR5-A32 deletion. AIDS-free survival curves (1993 European definition) for SEROCO patients were constructed by the Kaplan-Meier method and compared with the log-rank test. Crude and adjusted RR values were calculated with Cox proportional hazards models.
36. Data not shown.
37. M. Parmentier and A. Maho, personal communication.
38. S. Mummidi et al., Nat. Med. 4, 786 (1998).
39. 125I-labeled fractalkine in the presence or absence of a 500-fold excess of unlabeled recombinant human fractalkine (R & D Systems, Abingdon Oxon, UK) in binding medium [Hanks' balanced salt solution (HBSS) with 1 mg of bovine serum albumin (BSA) per milliliter and 0.01% azide, pH 7.4] in a total volume of 200 μl. After incubation for 2 hours at room temperature, unbound chemokine was separated from cells by washing with 1 ml of HBSS containing 0.5 M NaCl, BSA at 1 mg/ml, and 0.01% azide. γ emissions in the cell pellet were then assayed.
40. J. He et al., Nature 385, 645 (1997).
41. Supported by grants from the Agence Nationale de Recherches sur le SIDA and from SIDACTION. We thank P. Deterre, F. C. Darpoux, and P. A. Zimmerman for their helpful discussions.