Publication Date:
2000-03-24
Description:
Human immunodeficiency virus (HIV) enters cells in vitro via CD4 and a coreceptor. Which of 15 known coreceptors are important in vivo is poorly defined but may be inferred from disease-modifying mutations, as for CCR5. Here two single nucleotide polymorphisms are described in Caucasians in CX3CR1, an HIV coreceptor and leukocyte chemotactic/adhesion receptor for the chemokine fractalkine. HIV-infected patients homozygous for CX3CR1-I249 M280, a variant haplotype affecting two amino acids (isoleucine-249 and methionine-280), progressed to AIDS more rapidly than those with other haplotypes. Functional CX3CR1 analysis showed that fractalkine binding is reduced among patients homozygous for this particular haplotype. Thus, CX3CR1-I249 M280 is a recessive genetic risk factor in HIV/AIDS.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Faure, S -- Meyer, L -- Costagliola, D -- Vaneensberghe, C -- Genin, E -- Autran, B -- Delfraissy, J F -- McDermott, D H -- Murphy, P M -- Debre, P -- Theodorou, I -- Combadiere, C -- New York, N.Y. -- Science. 2000 Mar 24;287(5461):2274-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratoire d'Immunologie Cellulaire et Tissulaire, Centre National de la Recherche Scientifique UMR 7627, Hopital Pitie-Salpetriere, Paris, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10731151" target="_blank"〉PubMed〈/a〉
Keywords:
Acquired Immunodeficiency Syndrome/genetics/*physiopathology/virology
;
Case-Control Studies
;
Chemokine CX3CL1
;
*Chemokines, CX3C
;
Chemokines, CXC/metabolism
;
Chromosomes, Human, Pair 3
;
Cohort Studies
;
Disease Progression
;
European Continental Ancestry Group/genetics
;
Genetic Variation
;
Genotype
;
HIV/physiology
;
HIV Infections/genetics/*physiopathology/virology
;
Haplotypes
;
Homozygote
;
Humans
;
Leukocytes, Mononuclear/metabolism
;
Linkage Disequilibrium
;
Membrane Proteins/metabolism
;
Mutation
;
Polymorphism, Restriction Fragment Length
;
*Polymorphism, Single Nucleotide
;
Polymorphism, Single-Stranded Conformational
;
Receptors, Cytokine/*genetics/*physiology
;
Receptors, HIV/*genetics/*physiology
;
Survival Analysis
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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