MBL2 polymorphisms are involved in HIV-1 infection in Brazilian perinatally infected children

Boniotto, Michele; Braida, Laura; Pirulli, Doroti; Arraes, Luiz Cláudio; Amoroso, Antonio; Crovella, Sérgio

doi:10.1097/00002030-200303280-00025

Cited by 33 publications

(19 citation statements)

References 9 publications

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“…MBL2 allelic and genotype frequencies obtained in our groups of patients and controls were comparable to those reported in two previous studies performed on HIV vertical transmission in children populations also coming from Recife [20,21].…”

Section: Resultssupporting

confidence: 89%

“…In our study the population analyzed has a known genotype contribution from three groups, respectively African, Caucasian, and Native American [17] and MBL2 functional polymorphisms genotype and allelic frequencies were similar to those obtained on populations of the same ethnic origin [20,21]. The only other study on the distribution of MBL2 functional polymorphisms in Brazil was performed by Boldt et al [22].…”

Section: Discussionsupporting

confidence: 75%

See 1 more Smart Citation

Mannose binding lectin gene polymorphisms are associated with type 1 diabetes in Brazilian children and adolescents

Araújo¹,

Brandão²,

Guimarães³

et al. 2007

Human Immunology

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Section: Resultssupporting

confidence: 89%

Section: Discussionsupporting

confidence: 75%

Mannose binding lectin gene polymorphisms are associated with type 1 diabetes in Brazilian children and adolescents

Araújo¹,

Brandão²,

Guimarães³

et al. 2007

Human Immunology

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“…Our observations are contradicted by earlier reports where MBL deficiency variants have been identified as strong risk factors for HIV infection when compared to MBL sufficiency variants (Boniotto et al, 2003;Kuhn et al, 2006). Others have reported accelerated disease progression in individuals carrying MBL deficiency variants (Mangano et al, 2008;Singh et al, 2008).…”

Section: Mbl2 Genetic Polymorphism In Zimbabweanscontrasting

confidence: 99%

How Does Mother-to-Child Transmission of HIV Differ Among African Populations? Lessons fromMBL2Genetic Variation in Zimbabweans

Mhandire

Pharo

Kandawasvika

et al. 2014

OMICS: A Journal of Integrative Biology

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Mannose binding lectin (MBL) is a pathogen pattern recognition protein involved in antimicrobial activities. Variation in MBL2 gene has been extensively implicated in differential outcomes of infectious diseases in studies conducted outside Africa, but virtually very little is known on the role of this candidate gene in the African continent. We investigated human genetic variations in MBL2 in a Zimbabwean pediatric population and their putative associations with HIV infection in perinatally exposed children. One hundred and four children aged 7 to 9 years comprising 68 perinatally exposed to HIV (32 who were born infected and 36 who were uninfected) and 36 unexposed controls were recruited. DNA samples were genotyped for MBL2 polymorphisms using PCR-RFLP and sequencing. HIV infected children had markedly variable and significantly lower mean height ( p = 0.03) and weight ( p = 0.005) when compared to the uninfected children. Using all samples, frequencies for MBL2 genetic variants for the Zimbabwean population were calculated. Twelve single nucleotide polymorphisms were observed and minor alleles occurred with the following frequencies: -550C

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“…The 0 allele was significantly more frequent among the 164 HIV-1-infected children (0.29) than among the 150 healthy controls (0.18; P = 0.0032). Our data confirm the association between the presence of the mutated MBL2 allele (allele 0) and HIV-1 infection in perinatally exposed children, as reported by Boniotto et al (12).…”

supporting

confidence: 93%

“…Polymorphisms of the MBL2 gene have also been associated with increased susceptibility to HIV-1 infection in Brazilian children (12) and with accelerated disease progression in HIV-1-infected Italian children (13) born to seropositive mothers.…”

mentioning

confidence: 99%

A cost-effective melting temperature assay for the detection of single-nucleotide polymorphism in the MBL2 gene of HIV-1-infected children

Arraes

Souza

Bruneska

et al. 2006

Braz J Med Biol Res

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We report a fast (less than 3 h) and cost-effective melting temperature assay method for the detection of single-nucleotide polymorphisms in the MBL2 gene. The protocol, which is based on the Corbett Rotor Gene real time PCR platform and SYBR Green I chemistry, yielded, in the cohorts studied, sensitive (100%) and specific (100%) PCR amplification without the use of costly fluorophore-labeled probes or post-PCR manipulation. At the end of the PCR, the dissociation protocol included a slow heating from 60º to 95ºC in 0.2ºC steps, with an 8-s interval between steps. Melting curve profiles were obtained using the dissociation software of the Rotor Gene-3000 apparatus. Samples were analyzed in duplicate and in different PCR runs to test the reproducibility of this technique. No supplementary data handling is required to determine the MBL2 genotype. MBL2 genotyping performed on a cohort of 164 HIV-1-positive Brazilian children and 150 healthy controls, matched for age and sex and ethnic origin, yielded reproducible results confirmed by direct sequencing of the amplicon performed in blind. The three MBL2 variants (Arg52Cys, Gly54Asp, Gly57Glu) were grouped together and called allele 0, while the combination of three wild-type alleles was called allele A. The frequency of the A/A homozygotes was significantly higher among healthy controls (0.68) than in HIV-infected children (0.55; P = 0.0234) and the frequency of MBL2 0/0 homozygotes was higher among HIV-1-infected children than healthy controls (P = 0.0296). The 0 allele was significantly more frequent among the 164 HIV-1-infected children (0.29) than among the 150 healthy controls (0.18; P = 0.0032). Our data confirm the association between the presence of the mutated MBL2 allele (allele 0) and HIV-1 infection in perinatally exposed children. Our results are in agreement with the literature data which indicate that the presence of the allele 0 confers a relative risk of 1.37 for HIV-1 infection through vertical transmission. Correspondence

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MBL2 polymorphisms are involved in HIV-1 infection in Brazilian perinatally infected children

Cited by 33 publications

References 9 publications

Mannose binding lectin gene polymorphisms are associated with type 1 diabetes in Brazilian children and adolescents

Mannose binding lectin gene polymorphisms are associated with type 1 diabetes in Brazilian children and adolescents

How Does Mother-to-Child Transmission of HIV Differ Among African Populations? Lessons fromMBL2Genetic Variation in Zimbabweans

A cost-effective melting temperature assay for the detection of single-nucleotide polymorphism in the MBL2 gene of HIV-1-infected children

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