Haplotype diversity in the interleukin-4 gene is not associated with HIV-1 -transmission and aids progression

William S. Modi; Thomas R. O'Brien; David Vlahov; Susan Buchbinder; Edward Gomperts; John Phair; Stephen J. O'Brien; Cheryl Winkler

doi:10.1007/s00251-003-0541-5

Haplotype diversity in the interleukin-4 gene is not associated with HIV-1 -transmission and aids progression

William S. Modi, Thomas R. O'Brien, David Vlahov, Susan Buchbinder, Edward Gomperts, John Phair, Stephen J. O'Brien, Cheryl Winkler^*

^*Corresponding author for this work

Medicine, Infectious Diseases Division

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

Interleukin-4 (IL-4) is a pleiotropic cytokine produced primarily by activated CD4⁺ T lymphocytes, mast cells, and basophils. It modulates the functions of a variety of cell types involved with the immune response. This cytokine differentially regulates two major HIV-1 coreceptors and activates viral expression, and is thus a reasonable candidate gene for analyses in HIV-1/AIDS cohort studies. Population genetic variation in five single nucleotide polymorphisms (SNPs) in the 5′ region of the IL-4 gene was assessed in five racial groups. Neutrality tests reveal that the populations are evolving in accord with the infinite-sites model. However, coalescent simulations suggest greater haplotype diversity among African Americans than expected. This increased variation is presumably attributable to recombination or gene conversion. Genetic epidemiological analyses were conducted among European American and African American participants enrolled in five USA-based HIV-1/AIDS cohorts. One SNP, -589T, known to influence IL-4 transcription was previously shown to be associated with HIV-1/AIDS in both Japanese and French populations. Present analyses failed to identify any significant associations with HIV-1 infection or progression to AIDS.

Original language	English (US)
Pages (from-to)	157-164
Number of pages	8
Journal	Immunogenetics
Volume	55
Issue number	3
DOIs	https://doi.org/10.1007/s00251-003-0541-5
State	Published - Jun 1 2003

Funding

Acknowledgements Michael Sanford, Julie Bergeron, Elizabeth Binns-Roemer, and Mary McNally provided laboratory expertise. James Lautenberger and George Nelson assisted with the analyses. William Klitz collected the Meso-American Amerindians samples. This project has been funded in whole or in part with Federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. NO1-CO-124000. All experiments were carried out with institutional IRB approval of the National Institutes of Health.

Keywords

AIDS
HIV-1
Haplotype diversity
Interleukin-4
Recombination hotspot

ASJC Scopus subject areas

Immunology
Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s00251-003-0541-5

Cite this

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title = "Haplotype diversity in the interleukin-4 gene is not associated with HIV-1 -transmission and aids progression",

abstract = "Interleukin-4 (IL-4) is a pleiotropic cytokine produced primarily by activated CD4+ T lymphocytes, mast cells, and basophils. It modulates the functions of a variety of cell types involved with the immune response. This cytokine differentially regulates two major HIV-1 coreceptors and activates viral expression, and is thus a reasonable candidate gene for analyses in HIV-1/AIDS cohort studies. Population genetic variation in five single nucleotide polymorphisms (SNPs) in the 5′ region of the IL-4 gene was assessed in five racial groups. Neutrality tests reveal that the populations are evolving in accord with the infinite-sites model. However, coalescent simulations suggest greater haplotype diversity among African Americans than expected. This increased variation is presumably attributable to recombination or gene conversion. Genetic epidemiological analyses were conducted among European American and African American participants enrolled in five USA-based HIV-1/AIDS cohorts. One SNP, -589T, known to influence IL-4 transcription was previously shown to be associated with HIV-1/AIDS in both Japanese and French populations. Present analyses failed to identify any significant associations with HIV-1 infection or progression to AIDS.",

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note = "Funding Information: Acknowledgements Michael Sanford, Julie Bergeron, Elizabeth Binns-Roemer, and Mary McNally provided laboratory expertise. James Lautenberger and George Nelson assisted with the analyses. William Klitz collected the Meso-American Amerindians samples. This project has been funded in whole or in part with Federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. NO1-CO-124000. All experiments were carried out with institutional IRB approval of the National Institutes of Health.",

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AU - Modi, William S.

AU - O'Brien, Thomas R.

AU - Vlahov, David

AU - Buchbinder, Susan

AU - Gomperts, Edward

AU - Phair, John

AU - O'Brien, Stephen J.

AU - Winkler, Cheryl

N1 - Funding Information: Acknowledgements Michael Sanford, Julie Bergeron, Elizabeth Binns-Roemer, and Mary McNally provided laboratory expertise. James Lautenberger and George Nelson assisted with the analyses. William Klitz collected the Meso-American Amerindians samples. This project has been funded in whole or in part with Federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. NO1-CO-124000. All experiments were carried out with institutional IRB approval of the National Institutes of Health.

PY - 2003/6/1

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N2 - Interleukin-4 (IL-4) is a pleiotropic cytokine produced primarily by activated CD4+ T lymphocytes, mast cells, and basophils. It modulates the functions of a variety of cell types involved with the immune response. This cytokine differentially regulates two major HIV-1 coreceptors and activates viral expression, and is thus a reasonable candidate gene for analyses in HIV-1/AIDS cohort studies. Population genetic variation in five single nucleotide polymorphisms (SNPs) in the 5′ region of the IL-4 gene was assessed in five racial groups. Neutrality tests reveal that the populations are evolving in accord with the infinite-sites model. However, coalescent simulations suggest greater haplotype diversity among African Americans than expected. This increased variation is presumably attributable to recombination or gene conversion. Genetic epidemiological analyses were conducted among European American and African American participants enrolled in five USA-based HIV-1/AIDS cohorts. One SNP, -589T, known to influence IL-4 transcription was previously shown to be associated with HIV-1/AIDS in both Japanese and French populations. Present analyses failed to identify any significant associations with HIV-1 infection or progression to AIDS.

AB - Interleukin-4 (IL-4) is a pleiotropic cytokine produced primarily by activated CD4+ T lymphocytes, mast cells, and basophils. It modulates the functions of a variety of cell types involved with the immune response. This cytokine differentially regulates two major HIV-1 coreceptors and activates viral expression, and is thus a reasonable candidate gene for analyses in HIV-1/AIDS cohort studies. Population genetic variation in five single nucleotide polymorphisms (SNPs) in the 5′ region of the IL-4 gene was assessed in five racial groups. Neutrality tests reveal that the populations are evolving in accord with the infinite-sites model. However, coalescent simulations suggest greater haplotype diversity among African Americans than expected. This increased variation is presumably attributable to recombination or gene conversion. Genetic epidemiological analyses were conducted among European American and African American participants enrolled in five USA-based HIV-1/AIDS cohorts. One SNP, -589T, known to influence IL-4 transcription was previously shown to be associated with HIV-1/AIDS in both Japanese and French populations. Present analyses failed to identify any significant associations with HIV-1 infection or progression to AIDS.

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KW - Recombination hotspot

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Haplotype diversity in the interleukin-4 gene is not associated with HIV-1 -transmission and aids progression

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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