scholarly journals Analysis of a Functional IL-6 Gene Polymorphism in HLAB27 Associated and Intermediate Uveitis Gives New Insight in Disease Pathogenesis and Commonality with Other Autoimmune Diseases

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Lindner Ewald ◽  
Langner-Wegscheider Beate ◽  
Sarny Stephanie ◽  
Renner Wilfried ◽  
El-Shabrawi Yosuf

Purpose. Interleukin 6 (IL-6) plays a crucial role in both adaptive and innate immunity. The rs1800795 gene polymorphism of IL-6 is associated with various autoimmune diseases, like multiple sclerosis.Methods. 134 patients with HLAB27 positive iridocyclitis, 84 patients with intermediate uveitis, 132 controls, and 65 HLAB27 positive controls were recruited for the present case-control study. Main outcome measures were genotype distribution and allelic frequencies determined by polymerase chain reaction.Results. The frequency of carriers of the minor allele for rs1800795 was significantly higher in patients with intermediate uveitis compared to controls (p=0.04; OR: 1.46; CI: 1.02–2.11). Frequencies of the minor allele for rs1800795 did not differ significantly in patients with HLAB27 associated uveitis when compared to controls (p>0.05).Conclusion. These findings further deepen our understanding of the commonality between multiple sclerosis and intermediate uveitis. Given the functionality of the investigated polymorphism, new pathophysiological insights are gained that help to evaluate possible therapeutic targets.

Medicina ◽  
2012 ◽  
Vol 48 (1) ◽  
pp. 2
Author(s):  
Renata Balnytė ◽  
Daiva Rastenytė ◽  
Dalia Mickevičienė ◽  
Antanas Vaitkus ◽  
Erika Skrodenienė ◽  
...  

The aim of the present study was to investigate the influence of HLA-DRB1 alleles on the genetic susceptibility to multiple sclerosis in the Lithuanian population. Material and Methods. A total of 120 patients with multiple sclerosis and 120 unrelated healthy controls were enrolled in this case-control study. Allelic frequencies were compared between the groups. HLA-DRB1 alleles were genotyped using the polymerase chain reaction. Results. HLA-DRB1*15 was present in 55.8% of the patients with multiple sclerosis and 10.0% of the controls (OR, 5.58; 95% CI, 3.19–9.77; P<0.0001). The protective alleles that were found to be more prevalent among the controls compared with the patients with multiple sclerosis were HLADRB1* 01 (26.7% vs. 7.5%, P<0.0001), *03 (17.5% vs. 8.3%, P=0.034), and *16 (11.7% vs. 3.3%, P=0.014). HLA-DRB1*15 was more common among the female patients with multiple sclerosis than among the male patients (68.4% vs. 34.1%; OR, 4.18; 95%, CI 1.90–9.22; P=0.001). The heterozygous inheritance of HLA-DRB1*15 allele was more common in the patients with a history of maternal multiple sclerosis than in those with a history of paternal multiple sclerosis (29.4% vs. 9.8%; P=0.045). Conclusions. HLA-DRB1*15 was found to be associated with multiple sclerosis in the Lithuanian population. This allele was more prevalent among the female patients with multiple sclerosis. Maternal multiple sclerosis was more common than paternal multiple sclerosis, but the relationship with HLA-DRB1*15 allele was not established. HLA-DRB1*01, *03, and *16 appeared to be the protective alleles in this series.


2012 ◽  
Vol 19 (5) ◽  
pp. 553-558 ◽  
Author(s):  
Silja Conradi ◽  
Uwe Malzahn ◽  
Friedemann Paul ◽  
Sabine Quill ◽  
Lutz Harms ◽  
...  

Background:Multiple sclerosis (MS) is an autoimmune disease with known genetic and environmental susceptibility factors. Breastfeeding has been shown to be protective in other autoimmune diseases.Objective:This case-control study analyzed the association of breastfeeding in infancy on the risk of developing MS.Methods:A case-control study was performed in Berlin of 245 MS patients and 296 population-based controls, who completed a standardized questionnaire on their history and duration of breastfeeding in infancy and demographic characteristics. Univariable and multivariable logistic regression analysis was performed to investigate the association between breastfeeding and MS. The multivariate model was adjusted for age, gender, number of older siblings, number of inhabitants in place of domicile between ages 0 and 6 (categorized in each case), and daycare attendance between ages 0 and 3.Results:In multivariable analysis, breastfeeding showed an independent association with MS (adjusted OR 0.58; p = 0.028). However, with no breastfeeding as reference, the protective effect only emerges after four months of breastfeeding (multivariable analysis for ≤ four months adjusted OR 0.87; p = 0.614 and for > four months OR 0.51; p = 0.016).Conclusion:The results of this case-control study support the hypothesis that breastfeeding is associated with a lower risk of MS. These results are in line with findings of previous studies on other autoimmune diseases, in which breastfeeding was shown to have protective effects.


1991 ◽  
Vol 34 (2-3) ◽  
pp. 215-222 ◽  
Author(s):  
Marie-Paule Roth ◽  
Hélène Coppin ◽  
Patrick Descoins ◽  
Jean-Bernard Ruidavets ◽  
Anne Cambon-Thomsen ◽  
...  

2019 ◽  
Vol 87 (12) ◽  
pp. 4165-4173
Author(s):  
DOAA M.A. ELZOGHBY, M.D.; MONA M. OSMAN, M.D. ◽  
RANDA M. AMIN, M.D.; HEBA H. ALY, M.D. ◽  
NEHAL E. MAHMOUD, M.D.; DALIA M. ELFAWY, M.D. ◽  
SOMIA ABDELHAMID BAWADY, M.Sc.

2018 ◽  
Vol 50 (3-4) ◽  
pp. 111-118 ◽  
Author(s):  
Ibrahim Abdollahpour ◽  
Saharnaz Nedjat ◽  
Mohammad Ali Mansournia ◽  
Mohammad Ali Sahraian ◽  
Jay S. Kaufman

2015 ◽  
Vol 19 (4) ◽  
pp. 1355-1360 ◽  
Author(s):  
Gangqiong Liu ◽  
Xiao Feng ◽  
Chao Lan ◽  
Ziqiang Zhu ◽  
Shengli Ma ◽  
...  

2011 ◽  
Vol 7 (2-4) ◽  
pp. 199-203 ◽  
Author(s):  
Farah Lotfi Kashani ◽  
Dor Mohammad Kordi-Tamandani ◽  
Roya Sahranavard ◽  
Mohammad Hashemi ◽  
Farzaneh Kordi-Tamandani ◽  
...  

Glutathione S-transferases (GSTs) are major intracellular antioxidants, which, impaired in their function, are involved in the progress of schizophrenia (SCZ). The aim of this case-control study was to investigate the association between the polymorphism of glutathione S-transferases M1 (GSTM1), T1 (GSTT1), the glutathione S-transferase P1 gene (GSTP1) and SCZ. We isolated genomic DNA from peripheral blood of 93 individuals with SCZ and 99 healthy control subjects' genotypes analyzing them for GSTM1, GSTT1 and GSTP1 using polymerase chain reaction. The analysis of the gene–gene interaction between GSTs indicated that the magnitude of the association was greater for the combined AG/GSTT1 & GSTM1 genotypes (OR = 2.51; 95% CI: 1.13–5.63, P = 0.02). The AG and combined AG + GG genotypes of GSTP1 increased the risk of SCZ (OR = 1.83; 95% CI: 0.94–3.75 and OR = 1.71; 95% CI: 0.92–3.19, respectively). The genotypes of GSTT/NULL, NULL/GSTM and NULL/NULL increased the risk of SCZ (OR = 2.05; 95% CI: 0.9–4.74; OR = 2.0; 95% CI: 1.68–2.31; and OR = 1.8; 95% CI: 0.57–2.46, respectively). The present study supports previous data that suggest that impairment in the function of GSTs genes may increase the risk of SCZ.


2006 ◽  
Vol 27 (4) ◽  
pp. 212-216 ◽  
Author(s):  
Tatjana Pekmezovic ◽  
Jelena Drulovic ◽  
Marija Milenkovic ◽  
Mirjana Jarebinski ◽  
Nebojsa Stojsavljevic ◽  
...  

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