<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Several host genetic factors play an important role in susceptibility to human immunodeficiency virus type 1 (HIV-1) infection and in its progression to acquired immune deficiency syndrome (AIDS). The <italic>interleukin-18</italic> (<italic>IL-18</italic>) is a multifunctional proinflammatory cytokine that regulates immune responses and plays a pathogenic role in HIV-1 infection by enhancing viral replication. Single nucleotide polymorphisms (SNPs) in the <italic>IL-18</italic> gene promoter region may lead to altered transcriptional activity and <italic>IL-18</italic> production, and may account for variation in the risk of HIV-1 infection. We have investigated the association between <italic>IL-18</italic> promoter polymorphism <italic>-607C>A</italic> and HIV-1 infection through a case-control study of 500 patients with HIV-1/AIDS and an equal number of age and sex matched controls in a north Indian population. Genotyping using sequence specific primer-polymerase chain reaction (SSP-PCR) showed a statistically significant reduced risk of HIV-1 infection for the A>A genotype [odds ratio (OR) = 0.57, 95% confidence interval (95% CI) = 0.33-0.98, <italic>p</italic> = 0.040], but not for the C>A genotype (OR = 0.87, 95% CI = 0.66-1.14, <italic>p</italic> = 0.321). We concluded that the <italic>-607A</italic> allele of the <italic>IL-18</italic> gene promoter polymorphism may play a protective role against the progression of HIV-1 infection in this population.</p></abstract>

Several host genetic factors play an important role in susceptibility to human immunodeficiency virus type 1 (HIV-1) infection and in its progression to acquired immune deficiency syndrome (AIDS). The interleukin-18 (IL-18) is a multifunctional proinflammatory cytokine that regulates immune responses and plays a pathogenic role in HIV-1 infection by enhancing viral replication. Single nucleotide polymorphisms (SNPs) in the IL-18 gene promoter region may lead to altered transcriptional activity and IL-18 production, and may account for variation in the risk of HIV-1 infection. We have investigated the association between IL-18 promoter polymorphism -607C>A and HIV-1 infection through a case-control study of 500 patients with HIV-1/AIDS and an equal number of age and sex matched controls in a north Indian population. Genotyping using sequence specific primer-polymerase chain reaction (SSP-PCR) showed a statistically significant reduced risk of HIV-1 infection for the A>A genotype [odds ratio (OR) = 0.57, 95% confidence interval (95% CI) = 0.33-0.98, p = 0.040], but not for the C>A genotype (OR = 0.87, 95% CI = 0.66-1.14, p = 0.321). We concluded that the -607A allele of the IL-18 gene promoter polymorphism may play a protective role against the progression of HIV-1 infection in this population.

<italic>IL-18</italic> Gene Promoter Region 607C/A Polymorphism in HIV-1 Infected North Indian Population

Department of Biotechnology, Panjab University, Chandigarh, India

Department of Zoology, Panjab University, Chandigarh, India

Department of Internal Medicine, Post-Graduate Institute of Medical Education and Research, Chandigarh, India

Balkan Journal of Medical Genetics

 Gene Promoter Region 607C/A Polymorphism in HIV-1 Infected North Indian Population

Several host genetic factors play an important role in susceptibility to human immunodeficiency virus type 1 (HIV-1) infection and in its progression to...

IL-18 Gene Promoter Region 607C/A Polymorphism in HIV-1 Infected North Indian Population

Published Online: Dec 08, 2011

Page range: 41 - 48

DOI: https://doi.org/10.2478/v10034-011-0046-8

Keywords
Human immnunodeficiency virus type 1 (HIV-1), Acquired immune deficiency syndrome (AIDS), IL-18 gene, Single nucleotide polymorphisms (SNPs), Sequence specific primer-polymerase chain reaction (SSP-PCR)

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