scholarly journals Predictive Role of Cytokine Gene Polymorphisms for the Development of Femoral Head Osteonecrosis

2012 ◽  
Vol 33 (4) ◽  
pp. 215-221 ◽  
Author(s):  
S. Samara ◽  
P. Kollia ◽  
Z. Dailiana ◽  
C. Chassanidis ◽  
L. Papatheodorou ◽  
...  

Introduction: Osteonecrosis (ON) is a multifactorial disease that leads to hip destruction. Lately, much focus has been at femoral head preservation with nonsurgical methods. In this study we examined the polymorphisms of IL-1α, IL-1R, IL-1RA, IL-4Rα, IL-1β, IL-12,γIFN, TGF-β, TNF-a, IL-2, IL-4, IL-6 and IL-10 genes for evaluation of their contribution in ON.Material and methods: DNA was extracted from 112 ON patients and 438 healthy donors. Analysis of the polymorphisms was completed using the PCR-SSP method. Statistical analysis was performed using theχ2test to compare the genotype and allelic frequency distribution.Results: The CT and GA genotypes of the IL-1α(-889) and TNF-a (-238) genes were found higher in the patients (51.8% and 10.8%, respectively) compared to the healthy donors (39.7% and 2.1%, respectively). In TGF-βcodon 25, the G to C polymorphism in the homozygous state was found in 1.8% of the patients and the C allele frequency was 8.9%, whereas the G allele frequency was 91.1%. Also, at the IL-10 (-1082) gene the GG genotype was 16.2% in the controls whereas in the patients was 7.2%.Conclusions: Based on the above, we showed that certain genotypes of the IL-1α, TGF-β, IL-10 and TNF-a genes could be related in the pathogenesis of a complicated disease, such as osteonecrosis. The presence of one of the above mentioned polymorphisms or the simultaneous carriage of more than one may further increase the risk for osteonecrosis, especially in those at high risk, such as patients receiving corticosteroids.

Gene ◽  
2014 ◽  
Vol 544 (1) ◽  
pp. 32-40 ◽  
Author(s):  
Dongxiang Pan ◽  
Xiaoyun Zeng ◽  
Hongping Yu ◽  
Yan Yang ◽  
Chunhua Bei ◽  
...  

Author(s):  
Ye.L. Holiuk ◽  
M.S. Kabatsii ◽  
V.V. Filipchuk ◽  
M.V. Melnyk ◽  
N.Yu. Lukianova

Summary. Slipped capital femoral epiphysis (SCFE) is a multifactorial disease caused by a number of factors, and each of them can be triggered in its occurrence. Modern research is increasingly pointing to the leading role of epigenetic structures in the origin and course of this group of diseases. In recent years, the most promising area is the study of the role of microRNAs as an epigenetic factor that plays a leading role in the pathogenesis of multifactorial diseases. Objective: to develop a methodology for genetic genealogical examination of patients with juvenile epiphysiolysis of the femoral head. Materials and Methods. The study material was 26 patients with SCFE (15 girls and 11 boys) in different periods of sexual development: prepuberty – 7 patients, induction of puberty – 12 patients, and puberty and postpuberty – 7 patients. A questionnaire developed by us was used for clinical and genealogical research of the patients. The material for the epigenetic study, namely the study of microRNA-21 expression in patients with SCFE, was venous blood. Results. The expression of microRNA-21 in the blood of patients with SCFE is different (average expression is 0.86 conventional units) from those of healthy donors (average 0.393 conventional units) of the same age (p<0.05). Analysis of dependence on the period of sexual development revealed statistical differences in indicators depending on the group (p<0.05). No dependence of the level of microRNA-21 expression in patients with SCFE on sex and the period before or after surgery (p>0.05) was revealed. The obtained data on the probability of the influence of hereditary factors on the occurrence of SCFE are statistically significant (p<0.05). Conclusions. Our results of epigenetic and clinical genealogical research of patients with SCFE showed a high probability of influence of hereditary and epigenetic factors on the occurrence and course of this disease.


2007 ◽  
Vol 13 (2) ◽  
pp. 253-255 ◽  
Author(s):  
A Amirzargar ◽  
F Khosravi ◽  
S Dianat ◽  
F Hushmand ◽  
P Maryousef ◽  
...  

Background Cytokine gene polymorphisms have been extensively studied in association with different diseases. The role of cytokine gene polymorphisms in multiple sclerosis (MS), as a chronic immune-mediated neurodegenerative disease, has been previously reported. Materials and methods DNA samples were collected from 44 patients with relapsing-remitting multiple sclerosis (RRMS) and 140 unrelated healthy subjects. All participants in this study were matched for ethnicity. Cytokine gene SNPs were determined using the PCR-SSP method. Results and discussion We found no significant differences between MS patients and controls in most of the studied cytokine genes. Remarkable results were obtained for IL-2 GG —330 genotype (P = 0.06), IL-6 C —174 allele (P = 0.06), CG and GG genotypes (P < 0.001), and GG (P = 0.02) and CG (P < 0.001) haplotypes, and TNF-α A —238 allele (P < 0.001), GG (P = 0.003) and GA (P < 0.001) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. Multiple Sclerosis 2007; 13: 253–255. http://msj.sagepub.com


2001 ◽  
Vol 7 (3) ◽  
pp. 255-263 ◽  
Author(s):  
Julie R. Jonsson ◽  
Cui Hong ◽  
David M. Purdie ◽  
Carmel Hawley ◽  
Nicky Isbel ◽  
...  

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