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

Lu, Yuanan; Nerurkar, Vivek R.; Dashwood, Wan‐Mohaiza; Woodward, Cora L.; Ablan, Sherimay D.; Shikuma, Cecilia; Grandinetti, Andrew; Chang, Healani K.; Nguyen, Hien Tran; Wu, Zunyou; Yamamura, Yuichi; Boto, William; Merriwether, Andrew; Kurata, Takeshi; Detels, Roger; Yanagihara, Richard

doi:10.1016/s1201-9712(99)90022-x

Cited by 40 publications

(23 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…-------------------------------------------------------------------------------------------------- - (44,45). The absence of the CCR5-Δ32 homozygous genotype observed in Black and Asian people was in agreement with previous studies showing this genotype is infrequent among populations of African or Asian origins (8,20,22,23).…”

Section: Discussionsupporting

confidence: 92%

“…This fact underscores the existence of different mechanisms responsible for natural resistance to HIV-1 infection as suggested by other studies (22,26,42,46,47). Host factors modulating viral entry such as genetic polymorphisms in other chemokine receptors or in their ligands (48), the innate and acquired cellular immune responses against HIV-1 (3,49), and HLA genes (50-52) have been suggested to be involved both in the resistance to HIV-1 infection and disease progression.…”

Section: Discussionmentioning

confidence: 54%

“…This allele is almost absent among African-Americans in whom admixture with people of European descent has been considerable (20). In Asian populations, the CCR5-Δ32 allele was absent among Japanese, Filipino, Korean, Chinese and Indian populations studied (22), and healthy Thai blood donors (23). No Δ32/Δ32 genotype was detected among normal individuals from south of Iran (24), and from Arabic countries such as Egyptians and Syrians (25).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Frequency of CCR5-Δ32 deletion in human immunodeficiency virus type 1 (HIV-1) in healthy blood donors, HIV-1-exposed seronegative and HIV-1-seropositive individuals of southern Brazilian population

Reiche

Watanabe²,

Bonametti³

et al. 1998

Int J Mol Med

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 54%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Frequency of CCR5-Δ32 deletion in human immunodeficiency virus type 1 (HIV-1) in healthy blood donors, HIV-1-exposed seronegative and HIV-1-seropositive individuals of southern Brazilian population

Reiche

Watanabe²,

Bonametti³

et al. 1998

Int J Mol Med

View full text Add to dashboard Cite

show abstract

“…The 32-bp deletion of nucleotides 794 to 825 of the coding region of the CCR5 results in a frameshift that truncates the receptor after codon 206 (141) and is common to many populations, including those of European descent, Indians, and Middle Easterners (142). Although the truncation does not seem to produce an aberrant phenotype in individuals carrying this variant, this polymorphism is a factor in HIV-1 resistance in Caucasians with complete penetrance; infected Caucasian individuals heterozygous for the polymorphism show a slower rate of disease progression.…”

Section: Truncated Receptorsmentioning

confidence: 99%

Genetic Variations and Polymorphisms of G Protein-Coupled Receptors: Functional and Therapeutic Implications

Rana

Shiina

Insel

2001

Annu. Rev. Pharmacol. Toxicol.

View full text Add to dashboard Cite

s Abstract G protein-coupled receptors (GPCRs) represent a major class of proteins in the genome of many species, including humans. In addition to the mapping of a number of human disorders to regions of the genome containing GPCRs, a growing body of literature has documented frequently occurring variations (i.e. polymorphisms) in GPCR loci. In this article, we use a domain-based approach to systematically examine examples of genetic variation in the coding and noncoding regions of GPCR loci. Data to date indicate that residues in GPCRs are involved in ligand binding and coupling to G proteins and that regulation can be altered by polymorphisms. Studies of GPCR polymorphisms have also uncovered the functional importance of residues not previously implicated from other approaches that are involved in the function of GPCRs. We predict that studies of GPCR polymorphisms will have a significant impact on medicine and pharmacology, in particular, by providing new means to subclassify patients in terms of both diagnosis and treatment.

show abstract

“…In Eurasia CCR5∆32 frequencies show a north-south gradient with the highest allele frequencies in Finnish and Mordvinian populations (16%) and the lowest in Sardinia (4%) (Libert et al, 1998). The CCR5∆32 allele is not found in aboriginal populations outside Eurasia (Martinson et al, 1997;Leboute et al, 1999;Lu et al, 1999). The presence of CCR5∆32 allele elsewhere throughout the world probably represents recent European gene flow into local populations (Martinson et al, 1997).…”

Section: Introductionmentioning

confidence: 98%

Frequency of the CCRdelta32 allele in Brazilians: a study in colorectal cancer and in HTLV-I infection

et al. 2000

View full text Add to dashboard Cite

The identification of a 32-bp deletion in the cc-chemokine receptor-5 gene (CCR5delta32 allele) that renders homozygous individuals highly resistant to HIV infection has prompted worldwide investigations of the frequency of the CCR5delta32 allele in regional populations. It is important to ascertain if CCR5delta32 is a factor to be considered in the overall epidemiology of HIV in individual populations. With this in mind we determined the CCR5delta32 allele frequency in a large sample (907 individuals) of the southeastern Brazilian urban population, stratified as follows: 322 healthy unrelated individuals, 354 unselected colorectal cancer patients, and 229 blood donors. The three groups displayed essentially identical allelic frequencies of CCR5delta32 and pairwise comparisons did not show significant differences. Thus, our results can be pooled to provide a reliable estimate of the CCR5delta32 allele frequency in the southeastern Brazil of 0.053 ± 0.005. The blood donors comprised 50 HTLV-I serologically negative individuals, 115 non-symptomatic individuals HTLV-I positive by ELISA but with indeterminate Western blot results, 49 healthy blood donors HTLV-I positive both at ELISA and Western blot and 15 patients with clinical spinal cord disease (HAM). A suggestive trend was observed, with the CCR5delta32 frequencies decreasing progressively in these four categories. However, when we applied Fischer's exact test no significant differences emerged. We believe that further studies in larger cohorts should be performed to ascertain whether the CCR5delta32 allele influences the chance of becoming infected or developing clinical symptoms of HTLV-I infection.
A observação de que indivíduos homozigotos para uma deleção de 32 pares de base no gene que codifica para o receptor 5 de cc-quimiocinas apresentam um menor risco de contrair a infecção por HIV-1 levou à investigação da freqüência deste polimorfismo em várias populações mundiais. É importante investigar se o CCR5delta32 é um fator a ser considerado na epidemiologia do HIV em populações individuais. Com estes pressupostos em mente nós estabelecemos a freqüência do CCR5delta32 em uma grande amostra (907 indivíduos não-relacionados) da população urbana do sudeste brasileiro, estratificada da seguinte maneira: 322 indivíduos sadios, 354 pacientes com câncer colorretal e 229 doadores de sangue. Os três grupos apresentaram essencialmente a mesma freqüência alélica de CCR5delta32 e a comparação par-a-par não revelou diferenças significativas. Assim, os nossos resultados podem ser agrupados para fornecer uma estimativa confiável de 0,053 ± 0,005 da freqüência alélica de CCR5delta32. Os doadores de sangue compreendiam 50 indivíduos soronegativos para HTLV-I, 115 indivíduos assintomáticos por ELISA mas com resultados indeterminados em Western blot, 49 indivíduos soropositivos para HTLV-I mas assintomáticos e 15 indivíduos soropositivos para HTLV-I sintomáticos com mielopatia. Foi observado um sugestivo gradiente decrescente da freqüência alélica de CCR5delta32 nestas cat...

show abstract

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

Cited by 40 publications

References 21 publications

Frequency of CCR5-Δ32 deletion in human immunodeficiency virus type 1 (HIV-1) in healthy blood donors, HIV-1-exposed seronegative and HIV-1-seropositive individuals of southern Brazilian population

Frequency of CCR5-Δ32 deletion in human immunodeficiency virus type 1 (HIV-1) in healthy blood donors, HIV-1-exposed seronegative and HIV-1-seropositive individuals of southern Brazilian population

Genetic Variations and Polymorphisms of G Protein-Coupled Receptors: Functional and Therapeutic Implications

Frequency of the CCRdelta32 allele in Brazilians: a study in colorectal cancer and in HTLV-I infection

Contact Info

Product

Resources

About