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Original report| Volume 3, ISSUE 4, P186-191, June 1999

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Genotype and allele frequency of a 32-base pair deletion mutation in the CCR5 gene in various ethnic groups: Absence of mutation among asians and pacific islanders

Open ArchiveDOI:https://doi.org/10.1016/S1201-9712(99)90022-X
Genotype and allele frequency of a 32-base pair deletion mutation in the CCR5 gene in various ethnic groups: Absence of mutation among asians and pacific islanders
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      Abstract

      Background: A 32-base pair (bp) deletion mutation in the betachemokine receptor CCR5 gene has been associated with resistance against human immunodeficiency virus type 1 (HIV-1) infection and disease. Large-scale studies conducted among Caucasians indicate that individuals who are homozygous for this deletion mutation (Δ32/Δ32) are protected against HIV-1 infection despite multiple high-risk exposures, whereas CCR5/Δ32 heterozygotes have a slower progression to acquired immunodeficiency syndrome (AIDS).
      Objective: To determine the genotype and allele frequencies of the CCR5 gene 32-bp deletion mutation among ethnically diverse non-Caucasian populations.
      Methods: DNA, extracted from blood collected between 1980 and 1997 from 1912 individuals belonging to various ethnic groups, including 363 Caucasians, 303 Puerto Rican Hispanics, 150 Africans, 606 Asians, and 490 Pacific Islanders, were analyzed for the CCR5 gene 32-bp deletion mutation by a polymerase chain reaction (PCR)-based assay, using an oligonucleotide primer pair designed to discriminate CCR5 alleles without restriction endonuclease analysis.
      Results: The comparative frequency of CCR5/Δ32 heterozygosity was 61 of 363 (16.8%) in Caucasians, 17 of 303 (5.6%) in Puerto Rican Hispanics, 9 of 490 (1.8%) in Pacific Islanders, 0 of 606 (0%) in Asians, and 0 of 150 (0%) in Africans.
      Conclusions: The data confirm the high frequency of CCR5/Δ32 heterozygosity among Caucasians. Intermediate and low-level Δ32 allele frequencies among Puerto Rican Hispanics and Hawaiians could be attributed to recent European Caucasian gene flow. By contrast, the inability to detect the Δ32 allele among Asians and other Pacific Islander groups suggests that other mechanisms are responsible for resistance to HIV-1 infection in these populations.

      Keywords

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      Article info

      Publication history

      Accepted: April 2, 1999
      Received: January 7, 1999

      Footnotes

      ☆This study, which was approved by the Committee on Human Subjects of the University of Hawaii at Manoa, is a collaborative project of the RCMI Gateway Consortium, comprised of the University of Hawaii at Manoa, Ponce School of Medicine, and City University of New York.

      ☆☆Presented in part at the 16th Annual Meeting of the American Society for Virology, Bozeman, Montana, July 19–23, 1997; Fourth International Conference on AIDS in Asia and the Pacific, Manila, Philippines, October 25–29,1997; Fourth Asia-Pacific Congress of Medical Virology, Seoul, Korea, November 3–5,1997; and Sixth RCMI International AIDS Symposium, San Juan, Puerto Rico, November 15–17, 1998.

      ★Supported by U.S. Public Health Service grants G12RR/AI-03061, G12RR/AI-03050, and P20RR/Al-11091 from the Research Centers in Minority Institutions Program, National Institutes of Health, and funding from the Japanese Foundation for AIDS Prevention and the World AIDS Foundation.

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      DOI: https://doi.org/10.1016/S1201-9712(99)90022-X

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