scholarly journals Associations between Inflammatory Cytokine Gene Polymorphisms and Susceptibilities to Intracranial Aneurysm in Chinese Population

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Lu Xu ◽  
Liming Hu ◽  
Chongyu Hu ◽  
Junyu Liu ◽  
Bingyang Li ◽  
...  

Intracranial aneurysm (IA) is a complex disease caused by genetic and environmental factors. Evidence indicates that inflammation plays an important role in IA occurrence. We aimed to explore the associations between inflammatory cytokine gene polymorphisms and IA in a Chinese population. This study enrolled 768 participants of Han ethnicity, including 384 patients with IA and 384 healthy individuals. Sixteen single nucleotide polymorphisms (SNPs) of IL1, IL6, IL12, and TNF-α genes were genotyped using the Sequenom MassARRAY platform. Univariate and multivariate logistic regression analyses were used to analyze the associations. We found IL12B rs3181216 was significantly associated with IA in the recessive and additive models ( OR = 0.46 , 95% CI = 0.23–0.89, P = 0.022 ; OR = 0.74 , 95% CI = 0.56–0.98, P = 0.034 , respectively). TNF-α rs1799964 was associated with IA in dominant and additive models ( OR = 0.67 , 95% CI = 0.46–0.98, P = 0.041 ; OR = 0.71 , 95% CI = 0.51–0.98, P = 0.034 , respectively). IL1A rs17561 was associated with single IA susceptibility (dominant model: OR = 0.52 , 95% CI = 0.31–0.85, P = 0.040 ). The IL12B rs3181216 polymorphism was associated with single IA susceptibility in the recessive model ( OR = 0.41 , 95% CI = 0.18–0.93, P = 0.033 ). The IL12B rs2195940 polymorphism was associated with multiple IAs susceptibility (dominant model: OR = 0.28 , 95% CI = 0.09–0.89, P = 0.031 ; additive model: OR = 0.28 , 95% CI = 0.09–0.90, P = 0.032 ). TNF-α rs1799964 was associated with multiple IAs susceptibility in the dominant model ( OR = 0.54 , 95% CI = 0.30–0.97, P = 0.040 ). No associations were found between other polymorphisms and IA susceptibility. Therefore, IL1A, IL12B, and TNF-α gene polymorphisms are associated with IA susceptibility in a Chinese population.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3834-3834
Author(s):  
Deborah Elstein ◽  
Rachael Safyan ◽  
Catharina Whybra ◽  
Michael Beck ◽  
Gheona Altarescu

Abstract Fabry disease is an X-linked disorder associated with early-onset stroke, cardiomiopathy, and progression to end-stage renal failure. Correlations between IL-6 inflammatory cytokine gene polymorphisms and Mainz Severity Score Index (MSSI) scores have been shown. Therefore, polymorphisms of other key pro- and anti-inflammatory cytokines and correlation to clinical manifestations (MSSI scores) were attempted in order to build haplotype descriptions for Fabry disease. Genotyping for IL-10[819C/T;-592C/A]; IL-1b[+3954 C/T; -511C/T]; IL-1α[-889C/T]; and TNF-α[–308G/A] was performed in 76 patients and correlated with MSSI sub-scores and with enzyme (alpha-galactosidase A) levels. Fifty normal volunteers, age- and sex-matched, were also genotyped. Of 76 patients, 31(41%) were males and 45 (59%) were females. There was no correlation between enzyme levels and any cytokine levels. Statistically significant differences were found in prevalence of TNF-α [–308G/A] genotypes: 84%GG in patients versus 63%GG in controls (p=0.038) and for IL–1α [–889C/T] genotypes: 94%CC in patients versus 21%CC in controls (p<0.001). Statistically significant differences were found in the ratio between the two polymorphisms of IL-10 (p<0.0001), between the two polymorphisms of IL-1b (p=0.001); between IL-1α [–889C/T] and IL-1beta [3954C/T] (p=0.002); and between IL-10[–592C/T] and IL-1b [3954C/T] (p=0.041). Correlations between TNF-α [–308G/A] and both kidney and neurological MSSI sub-score (both: p=0.06) and between IL-10[-819C/T] and the MSSI neurological score (p=0.03) were noted. The relationship between inflammation and Fabry disease appears to exist on several levels. There was a multiplicity of associations among the two IL-10 polymorphisms and the two IL-1b polymorphisms and the one IL-1a polymorphism. These seem to indicate that the majority of patients have at least one C allele (but more often two C alleles) for each of the five polymorphic sites. On the other hand, the majority of patients had the GG genotype of the TNF-a[−308] polymorphism which is associated with decreased production of this pro-inflammatory cytokine. We speculate that sequence variations in regulatory DNA of genes coding for important members of the interleukin inflammatory family are associated with differential effects in Fabry disease and with increased sample size, haplotype blocks might be constructed.


2019 ◽  
Vol 21 (5) ◽  
pp. 552-563
Author(s):  
Sahereh Mirzaei ◽  
Larisa Burke ◽  
Anne G. Rosenfeld ◽  
Susan Dunn ◽  
Jennifer R. Dungan ◽  
...  

The purpose of this study was to determine whether relationships exist among protein cytokines, cytokine gene polymorphisms, and symptoms of potential acute coronary syndrome (ACS). Participants included 438 patients presenting to the emergency department (ED) whose symptoms triggered a cardiac evaluation (206 ruled in and 232 ruled out for ACS). Presence or absence of 13 symptoms was recorded upon arrival. Levels of tumor necrosis factor α (TNF-α), interleukin (IL)-6, and IL-18 were measured for all patients. A pilot analysis of 85 patients (ACS = 49; non-ACS = 36) genotyped eight single-nucleotide polymorphisms (SNPs; four TNF and four IL6 SNPs). Logistic regression models were tested to determine whether cytokines or SNPs predicted symptoms. Increased levels of TNF-α and IL-6 were associated with a decreased likelihood of chest discomfort for all patients. Increased levels of IL-6 were associated with a lower likelihood of chest discomfort and chest pressure for ACS patients, and an increased likelihood of shoulder and upper back pain for non-ACS patients. Elevated IL-18 was associated with an increased likelihood of sweating in patients with ACS. Of the four TNF SNPs, three were associated with shortness of breath, lightheadedness, unusual fatigue, and arm pain. In all, protein cytokines and TNF polymorphisms were associated with 11 of 13 symptoms assessed. Future studies are needed to determine the predictive ability of cytokines and related SNPs for a diagnosis of ACS or to determine whether biomarkers can identify patients with specific symptom clusters.


2009 ◽  
Vol 80 (1-2) ◽  
pp. 115-121 ◽  
Author(s):  
Eliane Moura ◽  
Rosiane Mattar ◽  
Eduardo de Souza ◽  
Maria R. Torloni ◽  
Amador Gonçalves-Primo ◽  
...  

2013 ◽  
Vol 37 (6) ◽  
pp. 752-759 ◽  
Author(s):  
In Kyung Yoon ◽  
Yun Jung Choi ◽  
Byung Chul Chang ◽  
Kyung Eun Lee ◽  
Jeong Yeon Rhie ◽  
...  

Gene ◽  
2013 ◽  
Vol 514 (1) ◽  
pp. 69-74 ◽  
Author(s):  
Priyanka Rani Garg ◽  
Kallur Nava Saraswathy ◽  
Aloke Kumar Kalla ◽  
Ekata Sinha ◽  
Pradeep Kumar Ghosh

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


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