Dataset Information

Association between IFN-? +874 T/A (Rs2430561) Polymorphisms and Bipolar 1 Disorder: A Study in an Ethnic Iranian Population.

ABSTRACT: Background:The pathophysiology of bipolar 1 disorder (B1D), a major psychiatric disorder with inflammatory origins and structural changes in the brain, is of great interest to researchers. Pro-inflammatory biomarkers and specific gene expression play pivotal roles in B1D development, and IFN-? has emerged as an important inflammatory marker. The aim of this research was to determine whether the INF-? +874 T/A polymorphism is associated with B1D susceptibility in an ethnic Iranian population. Methods:The IFN-? +874 T/A (rs2430561) gene polymorphism was studied in 106 B1D patients and 109 control subjects using sequence specific primers (SSPs) and amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Results:Significant statistical differences in IFN-? +874 T/A polymorphism genotype distribution were found between the patients and control subjects (P = 0.0006). Decreased risk of B1D was detected in the codominant model (T/T vs T/A and A/A, OR = 0.19, 95% CI = 0.07-0.49 for T/A, OR = 0.38, 95% CI = 0.12-1.24 for A/A, P value=0.0006), and in the dominant model (T/T vs T/A-A/A, OR = 0.21, 95% CI = 0.08-0.54, P = 0.0005). However, no significant difference in the IFN-? polymorphism allele distribution was found between the two groups (P = 0.25). Conclusion:The IFN-? +874 T/A polymorphism may have a significant role in BID development.

SUBMITTER: Fatemi Nayeri M

PROVIDER: S-EPMC6590944 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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Association between IFN-γ +874 T/A (Rs2430561) Polymorphisms and Bipolar 1 Disorder: A Study in an Ethnic Iranian Population.

Fatemi Nayeri Mahdieh M Talaei Ali A Tavakkol Afshari Jalil J Nikpoor Amin Reza AR Talaei Andisheh A Ganjali Rashin R

Reports of biochemistry & molecular biology 20190401 1

<h4>Background</h4>The pathophysiology of bipolar 1 disorder (B1D), a major psychiatric disorder with inflammatory origins and structural changes in the brain, is of great interest to researchers. Pro-inflammatory biomarkers and specific gene expression play pivotal roles in B1D development, and IFN-γ has emerged as an important inflammatory marker. The aim of this research was to determine whether the INF-γ +874 T/A polymorphism is associated with B1D susceptibility in an ethnic Iranian populat ...[more]

PMID: 31334280

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Project description:According Global Cancer Statistics 2020 GLOBOCAN estimates female breast cancer was found as the most commonly diagnosed cancer, with an estimated 2.3 million new cases (11.7%), and the fourth leading cause (6.9%) of cancer death among women worldwide. Identification of new diagnostic marker sharply characterize the tumor feature is intensive need. The present work was performed to investigate the involvement of the INF-γ + 874 T/A gene polymorphism in different breast cancer prognostic factors. Polymorphism detection analysis was performed on 163 subjects from breast cancer patients, 79 with inflamed cells of breast patients and 144 controls. The gene polymorphism was detected using the amplification refractory mutation system- polymerase chain reaction method (ARMS-PCR). The distribution of INF-γ T + 874A gene polymorphism shows strong significant association between INF-γ + 874 T/A genotypes TT in BC patients (ORTT: 6.41 [95% CI = 2.72-15.1] P < 0.0001) as well as strong significant association regarding T allele (ORT: 1.99 [95% CI = 1.43-2.76] P < 0.0001) when compared to the healthy control. In ICB group the strong association was noted with INF-γ + 874 T/A genotypes AT genotype (ORAT: 2.28 [95% CI = 1.22-4.29] P = 0.007). From the different histological BC hormonal markers the human epidermal growth factor receptor 2 (HER2) was showing significant association in INF-γ + 874 T/A genotypes TT (P = 0.03) and recessive model (TT versus AA + AT P = 0.03). Concerning different BC prognostic models, the poor prognostic one of luminal B, (ER+ve PR+ve Her2+ve) show significant association in the host INF-γ + 874 T/A genotype (TT, P = 0.03) and recessive model (TT versus AA + AT P = 0.02) when compared to the good prognostic hormonal status luminal A model, (ER+ve PR+ve Her2-ve). It seems that this is the first study that interested in correlate the INF-γ + 874 T/A gene polymorphisms in Egyptian BC patients. T allele, TT genotype and recessive model of the INF-γ + 874 T/A gene variants were documented as risk factors for BC pathogenesis. It may be used as practical biomarker to guide the BC carcinogenesis and risk process.

Project description:IntroductionTuberculosis (TB) is now the 2nd leading infectious killer after COVID-19 and the 13th leading cause of death worldwide. Moreover, TB is a lethal combination for HIV-patients. Th1 responses and particularly IFN-γ are crucial for immune protection against Mycobacterium tuberculosis infection. Many gene variants for IFNG that confer susceptibility to TB have been described in multiple ethnic populations. Likewise, some epigenetic modifications have been evaluated, being CpG methylation the major epigenetic mark that makes chromatin inaccessible to transcription factors, thus avoiding the initiation of IFNG transcription.MethodsWe evaluated both genetic and epigenetic changes involved in IFN-γ production and TB susceptibility in Argentine population. Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was performed for the IFN-γ +874 A/T polymorphism (rs2430561) genotyping in 199 healthy donors (HD) and 173 tuberculosis (TB) patients. IFN-γ levels from M. tuberculosis-stimulated PBMCs were measured by ELISA. The methylation status at the -53 CpG site of the IFNG promoter in individuals with latent infection (LTBI), TB and HD was determine by pyrosequencing.ResultsUsing a case-control study, we found that A allele and, consequently, AA genotype were overrepresented in patients with active disease. Moreover, HD carrying T allele (AT or TT genotype) evidenced an augmented IFN-γ secretion compared to TB patients. Codominance was the genetic model that best fits our results according to the Akaike information criterion (AIC). In addition, increased methylation levels at the -53 CpG site in the IFN-γ promoter were observed in whole blood of patients with active TB compared to LTBI individuals.DiscussionIFN-γ is regulated by genetic variants and epigenetic modifications during TB. Besides, AA genotype of the rs2430561 single nucleotide polymorphism could be considered as a potential TB susceptibility genetic biomarker in Argentina and the methylation of the -53 CpG site could result in a useful predictor of TB reactivation.

Dataset Information

Association between IFN-? +874 T/A (Rs2430561) Polymorphisms and Bipolar 1 Disorder: A Study in an Ethnic Iranian Population.

Publications

Association between IFN-γ +874 T/A (Rs2430561) Polymorphisms and Bipolar 1 Disorder: A Study in an Ethnic Iranian Population.

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