Interleukin-7 receptor gene polymorphism at +1237 locus and its effect on susceptibility to opportunistic infections among HIV and AIDS patients in Limpopo Province, South Africa

Abstract

ABSTRACT. Over the past decade, an increasing number of studies have demonstrated correlations between host genetics and susceptibility to diseases. However, few studies have investigated the effects of host genetics on the occurrence of opportunistic infections among human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) patients. In the present study, the frequency of the interleukin (IL)-7Rα +1237 A/G single nucleotide polymorphisms was determined in relation to opportunistic infection occurrence among HIV and AIDS patients in the Vhembe District. Demographic, clinical, and socioeconomic status data were collected from patients using a structured questionnaire. Genomic DNA was extracted from mouthwash samples using the QIAmp Blood Mini Kit. Genotyping of the IL-7Rα +1237 gene was conducted using a sequence-specific polymerase chain reaction method. We found that the IL-7Rα +1237 genotype distribution in our study population differed from those in European populations with a predominance of the A/G genotype. Individuals carrying the A/G genotype primarily suffered from chest pain (χ 2 = 5.016, P = 0.025), while individuals carrying the G/G genotype were protected from chest pain but had a higher prevalence of sexually transmitted disease (23 vs 16.9%); however, the difference was not statistically significant (P = 0.435). Individuals carrying the A/A genotype were more susceptible to diarrhea (32 vs 13.6%) (P = 0.034). Our data will support gene therapy and may be used to modify the course of diseases among HIV patients as well as the general population. Further studies using larger populations are needed to confirm these hypotheses.

Research Article Genetic polymorphism at Interleukin-7 receptor gene at +510 position and its impact on pain and other symptoms among HIV and AIDS patients

“…The IL-7 receptor gene carries a number of polymorphisms which have not been thoroughly investigated for their potential association with opportunistic infections. In a previous study, our group showed that polymorphism at +1237 locus of the IL-7 receptor gene was associated with diarrhea while individuals carrying the heterozygote genotypes seemed to be more susceptible to chest pain indicating that polymorphisms at different genes may affect the quality of life of people living with HIV (Samie et al, 2014). Contrary to previous findings, individuals carrying the heterozygote genotype seemed to be protected against pain and this was statistically significant while those with the CC genotype were at more risk of pain.…”

“…It consists of two different smaller protein chains, namely IL-7-specific-α chain (CD127), which binds IL-7 and thymic stromal lymphopoietin; and a common y-chain (CD132), commonly shared by many cytokines and is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRß) during early T cell development (Muegge et al, 1993). Deficiency of a functional IL-7 receptor gene leads to a variety of health complications, including infections from opportunistic pathogens (Samie et al, 2014). Interleukin-7 receptor plays a critical role in the development of immune cells.…”

“…Though much investigation has been done, very little data exist on the genetic polymorphism of the host genotypes and the occurrence of pain, particularly among HIV and AIDS patients in the African continent. Furthermore, the scientific literature on this topic is almost nonexistent in developing countries and very limited studies have been conducted in South Africa (Samie et al, 2014). Considering the importance of IL-7 in the human immune system, it has become interestingly important to observe genetic distribution in the local population in order to improve our understanding of the occurrence and potential prognosis of opportunistic infections among these patients.…”

Role of inosine triphosphate pyrophosphatase gene variant on fever incidence during zidovudine antiretroviral therapy

“…The discovery of novel genetic markers associated with ART response together with other markers associated with immune response against HIV-1 infection (Samie et al, 2014;Said et al, 2016) helped in the optimization of current regimens and improvement of the quality of life in patients sustaining lifelong ART treatment. In this study, we evaluated whether the ITPA rs1127354 polymorphism was associated with the occurrence of adverse effects of ART regimens containing AZT in HIV-1-positive patients from Northeast Brazil.…”