Dating the origin of the ccr5 delta32

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It is hypothesized that the imbalanced distribution of this allele was caused by environmental selective pressure, resulting in positive selection for the delta32 deletion [9].

CCR5 has gained prominence as a cofactor for HIV-1 entry.

Hence, 74 mutations have been described in this gene up to date including the intensively studied 32 base pair deletion (CCR5-delta32) that introduces a premature stop-codon into the CCR5 locus [5–7].

Epidemiologic studies have shown that the mutation occurs most frequently in the Caucasian population with up to 10-20% heterozygous and 1% homozygous carriers, while it can not be found in the Asian, Middle East, African, and the American Indian population [8].

Apart from the role in HIV infection, the CCR5-delta32 mutation seems to be a modulator regarding immune responses and transplantation immunology.

There has also been proposed an association of the mutation with the occurrence of allograft rejection and protection against graft-versus-host disease (GVHD) [18, 19].

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