Rs2430561 Polymorphism Research Articles

Genetic variations in the human immune system influence susceptibility to tegumentary leishmaniasis: a systematic review and meta-analysis

ABSTRACT Objectives The outcomes of tegumentary leishmaniasis (TL) rely on a complex interaction between the host immune system and the parasite. This study assessed the influence of polymorphisms in immune-related genes on TL. Methods Web of Science, Scopus, PubMed, and Embase databases were searched systemically. The meta-analysis used a retrospective model in examining alleles, heterozygotes, and homozygotes. A quality assessment and an analysis of cumulative evidence were performed. Results A total of 29 genes (encoding for cytokines, chemokines, and other immune receptors) and 84 polymorphisms were analyzed. The IL-1β_rs16944 (OR = 1.341, p = 0.003), TNF-α_rs1800629 (OR = 3.804, p = 0.004), MIF_rs755622 (OR = 3.357, p = 0.001), and INF- γ_rs243056 (OR = 1.670, p = 0.028) polymorphisms were speculated as risk factor for TL. They decrease the expression of the corresponding genes crucial for TL control. The quality assessment score was approximately 50%, suggesting the need for a clear method and polymorphism characterization for further comparison. The relevant risk of bias and other considerations resulted in low and moderate cumulative evidence confidence. Conclusions IL-1β_rs16944, TNF-α_rs1800629, MIF_rs755622, and INF-γ_rs2430561 polymorphisms were speculated as risk factor for TL, corroborating that IL-1β, TNF-α, INF-γ, and MIF are involved in the TL pathogenesis.

Association of the rs2430561 polymorphism of the interferon-γ gene with cervical cancer susceptibility and prognosis in Han Chinese women

Association of the rs2430561 polymorphism of the interferon-γ gene with cervical cancer susceptibility and prognosis in Han Chinese women

Searching for the Role of the IFNγ rs2430561 Polymorphism in Inducible Inflammation: Contribution to Metabolic Syndrome in 45 to 60-Year-Old Women.

Metabolic syndrome (MetS) is a cluster of conditions, increasing the risk of developing diseases that can lead to premature death. Interferon γ-inducible (the production of which is dependent on the IFNγ rs2430561 polymorphism) tryptophan-kynurenine inflammatory cascade helps to understand the increased association between inflammatory process and MetS, which is why we seek the relationship between the IFNγ gene polymorphisms and serum levels of markers of interferon-gamma (IFNγ)-inducible inflammatory cascade. The study sample consisted of 416 women, including 118 (28.4%) with MetS. The research procedure involved interview, anthropometric measurements, and blood collection. Kynurenine levels were significantly higher in the group of women with MetS. In the group with MetS, the A/T genotype of the IFNγ gene was accompanied by higher kynurenine levels. A direct relationship between the IFNγ gene polymorphisms and the rest of the markers of IFNγ-inducible inflammatory cascade was not confirmed with regard to MetS in 45 to 60-year-old women. A disparity in the kynurenine level, as well as the relationship between the presence of the A/T genotype of the IFNγ gene and a higher level of kynurenine in the group of women with MetS, may indicate an association between inflammation, metabolic disorders and tryptophan-kynurenine inflammatory cascade.

Effect of Interferon-γ Polymorphisms on Ankylosing Spondylitis: A Case-Control Study.

BackgroundThis research aimed to explore the effects of interferon-γ (IFN-γ) polymorphisms and expression profile on susceptibility to ankylosing spondylitis (AS) in a Chinese population.Material/MethodsBlood samples were collected from 89 AS patients and 106 healthy controls. IFN-γ polymorphisms were genotyped by polymerase chain reaction (PCR) and sequencing methods. The genotype distribution of polymorphism in the control group was detected by Hardy-Weinberg equilibrium (HWE). Odds ratios (OR) with 95% confidence intervals (95%CI) were calculated using the χ2 test to evaluate the association between AS susceptibility and IFN-γ polymorphisms. Moreover, serum IFN-γ level was measured by ELISA.Resultsrs1861493 and rs2430561 polymorphisms were conformed to be in HWE in genotypes distribution of the control group (P>0.05 for both). However, only TT genotype and T allele of rs2430561 presented significantly higher frequencies in AS patients than in healthy controls (P=0.04 and 0.03, respectively), indicating that they obviously increased the risk of AS in a Chinese population (OR=2.54, 95%CI=1.01–6.40; OR=1.60, 95%CI=1.04–2.46). In AS patients, serum IFN-γ level was higher than in controls, and its expression patterns showed significant association with genotypes of rs2430561.ConclusionsIFN-γ rs2430561 polymorphism may contribute to the risk of AS through influencing IFN-γ expression.

Association Between IFN-γ Gene Polymorphisms and IgA Nephropathy in a Chinese Han Population

Background/Aims: IFN-γ was reported to be involved in the development and progression of Immunoglobulin A nephropathy (IgAN), however, few studies have investigated the association between IFN-γ polymorphisms and IgAN. Therefore, we performed a case-control study to assess the association between IFN-γ polymorphisms and the risk of IgAN. Methods: Sequenom MassARRAY was used to genotype two SNPs (rs1861494 and rs2430561) in 351 patients with IgAN and 310 healthy controls. Associations were evaluated as odd ratios (OR) with 95% confidence intervals (CI). Results: No association was found between IFN-γ rs1861494 and IgAN risk or clinical parameters. For rs2430561, the AA genotype was more common in patients with IgAN, compared with controls (AT vs. AA: OR = 0.57, P = 0.035). IFN-γ-rs2430561 T allele may be a protective factor for IgAN susceptibility (T vs. A: OR = 0.59, P = 0.04). Subgroup analysis based on clinical features revealed no significant association between rs2430561 polymorphism and clinical data such as gender, 24-h urine protein, blood pressure, Oxford classifcation and estimated glomerular fltration rate. IgAN patients had a higher IFN-γ serum level than healthy controls and patients with rs1861494 AA genotype had a higher IFN-γ serum level compared with those with AG/GG genotypes. Conclusions: IFN-γ polymorphisms may be involved in the development and progression of IgAN.

Association of interferon-γ gene polymorphism and risk of cervical HPV infection

To investigate the association of interferon (IFN) γ gene polymorphisms and risk and prognosis of HPV cervical infection. PCR-ASP was used for detecting IFN-γ rs2430561 polymorphism in 179 HPV positive patients and 328 HPV negative normal controls. The frequency of A allele of 63.7% (228/358) was significantly higher than the frequency of T allele of 36.3% (130/358) in HPV positive group (P = 0.045). The frequencies were 41.3% (74/179) in AA genotype and 14.0% (25/179) in TT genotype, women carrying AA genotype increased the risk of HPV infection compare with those with TT genotype (OR = 1.784, 95% CI: 1.031 - 3.088, P = 0.039). During follow-up, the rate of HPV positive again in AA genotype was 83.8% (62/74), while TT genotype was 20.0% (5/25). In the analysis of Kaplan-Meier, the cumulative HPV negative rates of AA, TA and TT genotype exhibited significantly different (P = 0.008). The cumulative HPV negative rate of AA genotype was the lowest (1.1% - 5.9%). IFN-γ rs2430561 polymorphisms confer the susceptibility to HPV infection. Women with AA genotype exhibited higher risk of infection and inclined to be continuous status and recurrence after HPV infection.