Role of interferon-γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

Schena, Francesco Paolo; Cerullo, Giuseppina; Torres, Diletta Domenica; Scolari, Francesco; Foramitti, Marina; Amoroso, Antonio; Pirulli, Doroti; Floege, Jürgen; Mertens, Peter R.; Zerres, Klaus; Alexopoulos, Efstathios; Kirmizis, Dimitrios; Zelante, Leopoldo; Bisceglia, Luigi

doi:10.1038/sj.ejhg.5201591

Cited by 42 publications

(31 citation statements)

References 34 publications

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“…Our findings are consistent with those of Tian et al, who analyzed the rs2430561 polymorphism in 131 IgAN patients and 138 healthy controls, and reported a higher frequency of AA genotype and A allele in patient group, compared with control group [35]. A family-based association study also confirmed that rs2430561 A confer to IgAN risk, without influencing its progression [36]. In the present study, we investigated the relationship between IFN-γ rs1861494 polymorphism and IgAN, and report that the IFN-γ rs1861494 polymorphism is associated with IFN-γ serum levels.…”

Section: Discussionsupporting

confidence: 81%

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

Gao¹,

Wei²,

Liu³

et al. 2017

Kidney Blood Press Res

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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.

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Section: Discussionsupporting

confidence: 81%

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

Gao¹,

Wei²,

Liu³

et al. 2017

Kidney Blood Press Res

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“…1). A single nucleotide polymorphism of IFN-γ (+874 T/A, rs2430561), the wild genotype T allele is replaced by an A allele, which is located at the translation start site in the first intron of the IFN-γ gene and causes the TT genotype to be closely related with high-IFN production, while the AA and TA genotypes cause low-IFN production when the immune system responds to stimuli [8].…”

Section: Introductionmentioning

confidence: 99%

Interferon gamma +874 T/A polymorphism increases the risk of cervical cancer: evidence from a meta-analysis

Sun

Pen

et al. 2015

Tumor Biol.

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Data from previous studies about the association between interferon gamma (IFN-γ) +874 T/A (rs2430561) polymorphism and cervical cancer risk offer controversial results. To obtain a more dependable conclusion, this meta-analysis was performed. We selected eight articles including nine case-control studies with 1,116 cases and 1,290 controls, odds ratios (OR) with 95 % confidence intervals (CI) were used to assess the strength of the association. Subgroup analysis was carried out by ethnicity, source of controls, genotyping methods, and score of quality assessment. Our meta-analysis indicated that the IFN-γ (+874 T/A) polymorphism significantly increased the risk of cervical cancer in the codominant model (TA vs. TT: OR = 1.471, 95 % CI = 1.137-1.903, P = 0.003, I (2) % = 0.0, P Q = 0.785) and the dominant model (TA + AA vs. TT: OR = 1.399, 95 % CI = 1.097-1.784, P = 0.007, I (2) % = 0.0, P Q = 0.486) in the overall population. Stratified analysis by ethnicity indicated a significantly increased risk of cervical cancer in Asians in the codominant model (TA vs. TT: OR = 1.494, 95 % CI = 1.069-2.087, P = 0.019, I (2) % = 0.0, P Q = 0.440) and the dominant model (OR = 1.455, 95 % CI = 1.062-1.993, P = 0.019, I (2) % = 42.9, P Q = 0.154). Thus, the IFN-γ (+874 T/A) polymorphism is likely to increase the risk of cervical cancer. Because of the limited studies and sample sizes included in our meta-analysis, further well-designed and large-scale studies are demanded to confirm our results.

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“…Schena, contains at minimum 72 multiplex extended pedigrees, 159 trios, and 1,068 cases and 1,040 matched controls. All subjects enrolled are white and belong to various geographic areas from Germany, Italy, and Greece [Schena et al, 2005]. Aiming at a genome wide linkage study, which has been considered the most promising approach to identify IgAN susceptibility genes, a group of investigators constituted the European IgAN Consortium which was initially funded by the European Union.…”

Section: Igan Consortiummentioning

confidence: 99%

“…A family-based association study, including 53 patients, 45 complete trios, 4 incomplete trios and 36 discordant siblings, evaluated the impact of some Th1/Th2/Th3/TR-type lymphocyte and monocyte/macrophage cytokines on IgAN susceptibility [Schena FP et al, 2006]. Cytokine gene polymorphisms with a potential regulatory role on their production were investigated using the family-based association test (FBAT): IFN intron-1 CA-repeat at position 1349-1373; IL-13 -1055C/T; TGF 915G/C; IL-10 5'-proximal and distal microsatellites; TNF -308G/A, -238G/A.…”

Section: Igan Consortiummentioning

confidence: 99%

“…As with all family-based genetic studies, there is a high degree of dependency on access to sufficient numbers of clinically well-phenotyped and genetically informative cohorts. To address the paucity of cohorts with biopsy-proven IgAN available for the conduct of linkage-based, association-based, and sequence-based approaches, the European IgAN consortium has published the details of its IgAN Biobank resource [Schena et al, 2005].…”

Section: Genetics Of Iganmentioning

confidence: 99%

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IgA Nephropathy: Insights into Genetic Basis and Treatment Options

Kirmizis¹,

Papagianni²,

Schena³

2011

An Update on Glomerulopathies - Clinical and Treatment Aspects

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Role of interferon-γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

Cited by 42 publications

References 34 publications

Association Between <b><i>IFN-γ</i></b> Gene Polymorphisms and IgA Nephropathy in a Chinese Han Population

Association Between <b><i>IFN-γ</i></b> Gene Polymorphisms and IgA Nephropathy in a Chinese Han Population

Interferon gamma +874 T/A polymorphism increases the risk of cervical cancer: evidence from a meta-analysis

IgA Nephropathy: Insights into Genetic Basis and Treatment Options

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