scholarly journals DNA Methyltransferase 3B Gene Promoter and Interleukin-1 Receptor Antagonist Polymorphisms in Childhood Immune Thrombocytopenia

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Margarita Pesmatzoglou ◽  
Marilena Lourou ◽  
George N. Goulielmos ◽  
Eftichia Stiakaki

Primary immune thrombocytopenia (ITP) is one of the most common blood diseases as well as the commonest acquired bleeding disorder in childhood. Although the etiology of ITP is unclear, in the pathogenesis of the disease, both environmental and genetic factors including polymorphisms of TNF-a, IL-10, and IL-4 genes have been suggested to be involved. In this study, we investigated the rs2424913 single-nucleotide polymorphism (SNP) (C46359T) in DNA methyltransferase 3B (DNMT3B) gene promoter and the VNTR polymorphism of IL-1 receptor antagonist (IL-1 Ra) intron-2 in 32 children (17 boys) with the diagnosis of ITP and 64 healthy individuals. No significant differences were found in the genotype distribution ofDNMT3Bpolymorphism between the children with ITP and the control group, whereas the frequency of allele T appeared significantly increased in children with ITP (P = 0.03, OR = 2, 95% CI: 1.06–3.94). In case ofIL-1 Rapolymorphism, children with ITP had a significantly higher frequency of genotype I/II, compared to control group (P = 0.043, OR = 2.60, 95% CI: 1.02–6.50). Moreover, genotype I/I as well as allele I was overrepresented in the control group, suggesting that allele I may have a decreased risk for development of ITP. Our findings suggest that rs2424913DNMT3BSNP as well asIL-1 RaVNTR polymorphism may contribute to the susceptibility to ITP.

Author(s):  
Yasamin Sayed Hajizadeh ◽  
Elina Emami ◽  
Marina Nottagh ◽  
Zahra Amini ◽  
Nazila Fathi Maroufi ◽  
...  

AbstractObjectiveRecurrent pregnancy loss (RPL) is a heterogeneous disease which is defined as two or more consecutive fetal losses during early pregnancy. Interleukin-1 receptor antagonist (Materials and methodsIn this case control study, genetic polymorphism was studied in 140 RPL patients and 140 healthy women as controls. Genomic DNA was extracted from the blood samples and polymorphism analysis was performed using the polymerase chain reaction (PCR) method. Finally, the data obtained were analyzed by statistical software.ResultsWe found an increased frequency of the IL-1Ra 1/1 genotype in the case group compared to the control group. Whereas, the frequency of IL-1Ra genotype 1/2 was higher in control group than in the case group. However, we did not observe an association betweenConclusionVNTR polymorphism may not be a genetic factor for RPL. However, investigation of


2013 ◽  
Vol 25 (6) ◽  
pp. 349-355 ◽  
Author(s):  
Mouna Ben Nejma ◽  
Ines Zaabar ◽  
Ferid Zaafrane ◽  
Sihem Thabet ◽  
Anouar Mechri ◽  
...  

ObjectiveRecent genetic studies have revealed that the interleukin (IL) 1 gene complex is associated with schizophrenia in the Caucasian population; however, data from the North African population are limited. To further assess the role of interleukin 1 receptor antagonist protein (IL1Ra) in schizophrenia, we examined a functional multiallelic polymorphism localised in intron 2 of this receptor gene associated with an altered level of IL1Ra.MethodsIn the present case–control study, we have analysed the (86 bp)npolymorphism of the interleukin 1 receptor antagonist (IL1RN) gene (RS 1794068) by polymerase chain reaction genotyping in 259 patients with schizophrenia and 178 healthy controls from the Tunisian population.ResultsWe showed that the frequencies of the IL1RN*2/2 genotype and allele 2 were higher in the patient group compared with the control group, and the difference was statistically significant [13.5% vs. 5.6%,p= 10−3, odds ratio (OR) = 3.2% and 32.8% vs. 21.9%,p= 3 × 10−4, OR = 1.76, respectively). When we evaluated the association between this genetic polymorphism and the clinical variables of schizophrenia, we found that the frequencies of the 2/2 genotype and allele 2 were significantly higher in the male patient group (p= 10−4and 10−5, respectively) compared with the male control group, indicating a substantially increased risk for sex-onset schizophrenia with inheritance of the IL1RN2 allele. When the association between the genotypes and outcome was evaluated by multiple logistic regression analysis, the adjusted OR for the IL1RN genotypes remained statistically significant [1.39; 95% confidence interval (CI) = 1.11–1.73;p= 0.003].ConclusionThe intron 2 polymorphism in IL1RN or a genetic polymorphism at proximity seems to be associated specifically with schizophrenia in the Tunisian male population.


2018 ◽  
Vol 67 (1) ◽  
pp. 151-156 ◽  
Author(s):  
Mostafa Ibrahimi ◽  
Maryam Moossavi ◽  
Ehsan Nazemalhosseini Mojarad ◽  
Mahsa Musavi ◽  
Milad Mohammadoo-khorasani ◽  
...  

2002 ◽  
Vol 3 (7) ◽  
pp. 400-406 ◽  
Author(s):  
L Vijgen ◽  
M Van Gysel ◽  
A Rector ◽  
I Thoelen ◽  
N Esters ◽  
...  

2015 ◽  
Vol 42 (2) ◽  
pp. 142-147 ◽  
Author(s):  
Saeedeh Salimi ◽  
Milad Mohammadoo-Khorasani ◽  
Mahdieh Mousavi ◽  
Minoo Yaghmaei ◽  
Mojgan Mokhtari ◽  
...  

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