Genetic diversity and linkage disequilibrium in the chemokine receptor CCR2-CCR5 region among individuals and populations

•CCR2 and CCR5 genes show linkage in certain individuals and populations.•Novel haplotypes for CCR2 have been identified.•The genotype of a rare case of an HIV+ individual with the CCR5 delta 32 deletion is discussed. Chemokine receptors CCR2 and CCR5 play a key role in immune and inflammatory respo...

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Bibliographic Details
Published in:Cytokine (Philadelphia, Pa.) Pa.), 2013-11, Vol.64 (2), p.571-576
Main Authors: Lawhorn, Collene, Yuferov, Vadim, Randesi, Matthew, Ho, Ann, Morgello, Susan, Kreek, Mary Jeanne, Levran, Orna
Format: Article
Language:English
Subjects:
Adult
Africans
ancestry
CCR2
CCR5
Chemokine receptors
chemokines
Ethnic Groups - genetics
Ethnicity
Europeans
gene frequency
Gene Frequency - genetics
genes
Genetic Variation
Genetics, Population
Genome, Human - genetics
haplotypes
Haplotypes - genetics
Health disparities
Hispanics
Humans
inflammation
linkage disequilibrium
Linkage Disequilibrium - genetics
loci
Male
receptors
Receptors, CCR2 - genetics
Receptors, CCR5 - genetics
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Summary:•CCR2 and CCR5 genes show linkage in certain individuals and populations.•Novel haplotypes for CCR2 have been identified.•The genotype of a rare case of an HIV+ individual with the CCR5 delta 32 deletion is discussed. Chemokine receptors CCR2 and CCR5 play a key role in immune and inflammatory responses and have been associated with several diseases, including AIDS. In order to comprehend health disparities it is important to understand the nature of genetic variation in specific genes of interest in different populations. Current studies of the CCR2 and CCR5 receptor genes are primarily focused on the CCR5-Δ32, and CCR2-V64I SNPs. Sanger sequencing was used to sequence the regions containing 16 SNPs in the adjacent CCR2 and CCR5 genes (including CCR5-Δ32, and CCR2-V64I) in 249 subjects of African, European and Hispanic ancestry. Linkage disequilibrium (LD) and haplotypes were determined using Haploview. The data revealed large differences in allele frequencies of several SNPs and LD patterns among the ethnic groups, including SNPs that were restricted to Africans or Europeans. Seven known CCR5 haplotypes and six novel CCR2 haplotypes were identified. A rare case of an HIV+ subject with the CCR5-Δ32/Δ32 was identified. These data demonstrate a LD between CCR2 and CCR5 at several loci and provide new information about CCR2 that contributes to our understanding of its population-specific genetic variability. The data indicate that in addition to CCR5-Δ32 and CCR2-V64I, other SNPs and haplotypes may be important genetic determinants of disease and should be investigated.
ISSN:1043-4666
1096-0023
DOI:10.1016/j.cyto.2013.08.008