Frequencies of SDF-1 chemokine, CCR-5, and CCR-2 chemokine receptor gene alleles conferring resistance to human immunodeficiency virus type 1 and AIDS in Kuwaitis

Voevodin, Alexander; Samilchuk, Elena; Dashti, Suhaila

doi:10.1002/(sici)1096-9071(199905)58:1<54::aid-jmv8>3.0.co;2-n

Cited by 40 publications

(43 citation statements)

References 29 publications

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“…This could be because the sample-size (50 individuals) was small or because of miscegenation. Since previous studies (Voevodin et al 1999;Shieh et al1999;Wang et al 2003) have not detected the m303 allele in Asian populations we did not expect to find it in either the Waiampi or Tiriyó populations because they are of Asian descent, and this was indeed the case.…”

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confidence: 69%

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[No Title Available]

Grimaldi¹,

Acosta

Cabral-Oliveira

et al. 2005

Genet. Mol. Biol.

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The main coreceptor gene involved in HIV-1 infection is CCR5 β chemokine receptor gene for which several mutations have been described, some of which have correlated with HIV-1 infection, acquired immune deficiency syndrome (AIDS), or both. Deletion of 32bp in the CCR5 gene (∆32) has been shown to confer resistance to infection by HIV-1 R5 strains. Another mutation, characterized by a thymine to adenine (T to A) nucleotide substitution at position 303 (m303), has shown the same effects as the ∆32 mutation, with previous studies having shown that the allele frequency of the CCR5-m303 mutation is 0.014 in African-American and 0.007 in French populations. The Brazilian population is known to be genetically diverse, because of which we investigated the allele frequency of the CCR5-m303 mutation in three different Brazilian ethnic groups containing individuals who were not infected with HIV-1 and also in a cohort of HIV-1 long-term non-progressors. We used the polymerase chain reaction (PCR) and HincII restriction fragment length polymorphisms (RFLP) to investigate these populations and found that none of the 566 individuals examined the mutant CCR5-m303 allele. These results are in accordance with the previously reported allelic frequencies for African-American and Caucasian populations and may reflect the real prevalence of the m303 mutation in Brazil.

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confidence: 69%

“…The mutant m303 allele was not identified in 200 Kuwaitis (Voevodin et al 1999), nor among 687 South Africans (Williamson et al 2000) or in seronegative but HIV-1 infected Chinese (Shieh et al1999;Wang et al 2003), although the m303 gene was detected at an allelic frequency of 0.007 in 145 Caucasians (Williamson et al 2000).…”

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confidence: 99%

[No Title Available]

Grimaldi¹,

Acosta

Cabral-Oliveira

et al. 2005

Genet. Mol. Biol.

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“…The beta variant has a guanine to adenine (G→a) single nucleotide polymorphism at position 801 of the 3'-untranslated region of its gene (30)(31)(32). allele a is probably a target for cis-acting factors, capable of up-regulating the expression of SdF-1 protein (30,32,33). it has been suggested that homozygotes for SdF1-3'a (3'a/3'a) produce more SdF-1 than wild-type ones (3'G/3'G), an observation which is in need of confirmation (32,34,35).…”

Section: Introductionmentioning

confidence: 99%

“…allele a is probably a target for cis-acting factors, capable of up-regulating the expression of SdF-1 protein (30,32,33). it has been suggested that homozygotes for SdF1-3'a (3'a/3'a) produce more SdF-1 than wild-type ones (3'G/3'G), an observation which is in need of confirmation (32,34,35). This single nucleotide polymorphism of the SdF-1 gene has been investigated in type 1 diabetes and HiV-1 infection, and has been reported to be associated with an increased risk of non-Hodgkin's lymphoma in HiV-1 infected individuals (30,34,35).…”

Section: Introductionmentioning

confidence: 99%

Analysis of the stromal cell-derived factor 1-3'A gene polymorphism in pancreatic cancer

Theodoropoulos

Panoussopoulos²,

Michalopoulos³

et al. 2010

Mol Med Rep

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Abstract.Stromal cell derived factor-1 (SdF-1), a cXc chemokine that plays an important role in the tumor growth, angiogenesis and metastasis of tumor cells, has a polymorphism at position 801 of its 3'-untranslated region, known as SdF1-3' a. The SdF1-3' a polymorphism has been investigated in various types of cancer, but no information is currently available on its role in pancreatic cancer. in this study, 80 pancreatic cancer patients and 160 normal healthy control subjects were investigated for the genotype and allelic frequencies of the SdF-1 gene using Pcr-rFlP. The genotype frequencies for GG, Ga and aa were 21.25, 77.5 and 1.25% in patients, and 42.5, 55 and 2.5% in healthy subjects, respectively. The a carrier group (Ga+aa genotype) and the a allele were overrepresented among the patients with pancreatic cancer (p=0.015 and p=0.031, respectively). The Ga+aa genotype was statistically correlated with an advanced T stage and the presence of lymph node metastasis, and displayed a clear trend towards significance in relation to the presence of distant metastatic disease (p=0.061). Only T stage was significantly related to a allele frequency (p=0.004). SdF1-3' a allele carriers were more prevalent among cancer patients than among normal subjects. SdF1-3' a allele carrier status may imply a higher risk of pancreatic cancer, while the presence of the a allele in pancreatic cancer patients may be related to aggressive features of this malignancy.

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“…The CCR5D32 genotype was determined by PCR with primers spanning the 32 bp deletion (Martinson et al, 1997). The SDF1-3'A and CCR2-64I mutations were detected by PCR with primers covering polymorphic sites, followed by MspI and BsaBI digestion, respectively, and restriction fragment length polymorphism (RFLP) analysis as described by Voevodin et al (1999).…”

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confidence: 99%

Frequencies of CCR5-D32, CCR2-64I and SDF1-3’A mutations in Human Immunodeficiency Virus (HIV) seropositive subjects and seronegative individuals from the state of Pará in Brazilian Amazonia

et al. 2005

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The distribution of genetic polymorphisms of chemokine receptors CCR5-D32, CCR2-64I and chemokine (SDF1-3'A) mutations were studied in 110 Human Immunodeficiency Virus type 1 (HIV-1) seropositive individuals (seropositive group) and 139 seronegative individuals (seronegative group) from the population of the northern Brazilian city of Belém which is the capital of the state of Pará in the Brazilian Amazon. The CCR5-D32 mutation was found in the two groups at similar frequencies, i.e. 2.2% for the seronegative group and 2.7% for the seropositive group. The frequencies of the SDF1-3'A mutation were 21.0% for the seronegative group and 15.4% for the seropositive group, and the CCR2-64I allele was found at frequencies of 12.5% for the seronegative group and 5.4% for the seropositive group. Genotype distributions were consistent with Hardy-Weinberg expectations in both groups, suggesting that none of the three mutations has a detectable selective effect. Difference in the allelic and genotypic frequencies was statistically significant for the CCR2 locus, the frequency in the seronegative group being twice that found in the seropositive group. This finding may indicate a protective effect of the CCR2-64I mutation in relation to HIV transmission. However, considering that the CCR2-64I mutation has been more strongly associated with a decreased risk for progression for AIDS than to the resistance to the HIV infection, this could reflect an aspect of population structure or a Type I error.

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Frequencies of SDF-1 chemokine, CCR-5, and CCR-2 chemokine receptor gene alleles conferring resistance to human immunodeficiency virus type 1 and AIDS in Kuwaitis

Cited by 40 publications

References 29 publications

[No Title Available]

[No Title Available]

Analysis of the stromal cell-derived factor 1-3'A gene polymorphism in pancreatic cancer

Frequencies of CCR5-D32, CCR2-64I and SDF1-3’A mutations in Human Immunodeficiency Virus (HIV) seropositive subjects and seronegative individuals from the state of Pará in Brazilian Amazonia

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