scholarly journals The role of interleukin 4 and IL-4RA in intervertebral disc degeneration: investigation of single nucleotide polymorphisms in genes and a systematic review & meta-analysis of IL-4 expression level

2019 ◽  
Vol 34 (1) ◽  
pp. 66-71 ◽  
Author(s):  
Sara Hanaei ◽  
Sina Abdollahzade ◽  
Maryam Sadr ◽  
Mohammad Hossein Mirbolouk ◽  
Ehsan Fattahi ◽  
...  
2020 ◽  
Author(s):  
Sara Hanaei ◽  
Sina Abdollahzade ◽  
Maryam Sadr ◽  
Mohammad Hossein Mirbolouk ◽  
Ehsan Fattahi ◽  
...  

Abstract Background: Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting low back pain or radicular pain in a variety of severity. As the inflammatory changes in discs, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been proposed to play role in pathophysiology of disease. This study has been conducted to elucidate the role of IL-2, IL-12, and IFN-γ single nucleotide polymorphisms (SNP) in this disease.Method: 76 patients diagnosed with IVDD and 140 healthy subjects who have complied with eligibility criteria have been included. A total volume of 5cc peripheral blood of each participant has been used for investigating the IL-2 +166G/T, IL-2 -330G/T, IL-12 -1188A/C, and IFN-γ +847A/T single nucleotide polymorphisms (SNP) through PCR-SSP method.Results: The ‘TG’ and ‘TT’ genotypes of IL-2 -330G/T polymorphism have been significantly more common among patients and healthy controls respectively and therefore were associated with disease. The ‘GT’ and ‘TT’ haplotypes of IL-2, comprised of -330G/T, and +166G/T, have been also more common among patients and controls respectively.Conclusion: This study has indicated significant role of IL-2 genotypes and haplotypes in IVDD, as they have been differently distributed in cases and controls. Therefore, alteration in IL-2 gene structure could play an important role in pathophysiology of IVDD through alteration of its function.


2015 ◽  
Vol 26 (5) ◽  
pp. 581-606 ◽  
Author(s):  
Sara Hanaei ◽  
Sina Abdollahzade ◽  
Alireza Khoshnevisan ◽  
Christopher K. Kepler ◽  
Nima Rezaei

AbstractIntervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of variations, such as single nucleotide polymorphisms, which could play a significant role in the etiology of this disease. Besides, the interactions with environmental factors could make the role of genetic factors more complicated. Genetic variations in disc components could participate in developing degenerative disc disease through altering the normal homeostasis of discs. Gene polymorphisms in disc proteins (collagens I, II, III, IX, and XI), proteoglycans (aggrecan), cytokines (interleukins I, VI, and X), enzymes (matrix metalloproteinases II, III, and IX), and vitamin D receptor seem to play considerable roles in the pathology of this disease. There are also many other investigated genes that could somehow take part in the process. However, it seems that more studies are needed to clarify the exact role of genetics in IVDD.


2020 ◽  
Vol 40 (6) ◽  
Author(s):  
Shiqi Yi ◽  
Jiawei Xu ◽  
Hao Shi ◽  
Wenbo Li ◽  
Qian Li ◽  
...  

Abstract Background: Polycystic ovarian syndrome (PCOS) is a kind of common gynecological endocrine disorder. And the mutations of melatonin receptor (MTNR) genes are related to the occurrence of PCOS. But previous researches have shown opposite results. So, the object of our systematic review and meta-analysis is to investigate the relationship between MTNR 1A/B polymorphisms and PCOS. Methods: PubMed, Embase, Ovid, the Cochrane Library, Web of Science and three Chinese databases (VIP, CNKI and Wanfang) were used to retrieve eligible articles published between January 1980 and February 2020. And we used the odds ratio (OR) and its 95% confidence interval (CI) to investigate the strength of the association by six genetic models, allelic, codominant (homozygous and heterozygous), dominant, recessive and superdominant models. Review Manager 5.3, IBM SPSS statistics 25 and Stata MP 16.0 software were used to do this meta-analysis. Results: Our meta-analysis involved 2553 PCOS patients and 3152 controls, for two single nucleotide polymorphisms (rs10830963 C> G in MTNR1B and rs2119882 T> C in MTNR1A) and significant associations were found in some genetic models of these single nucleotide polymorphisms (SNPs). For rs10830963, strongly significant was found in the heterozygote model (GC vs. CC, P=0.02). Additionally, a slight trend was detected in the allelic (G vs. C), homozygote (GG vs. CC) and dominant (GG+GC vs. CC) model of rs10830963 (P=0.05). And after further sensitivity analysis, a study with high heterogeneity was removed. In the allelic (P=0.000), homozygote (P=0.001), dominant (P=0.000) and recessive (GG vs. GC+CC, P=0.001) model, strong associations between rs10830963 and PCOS were found. Moreover, for rs2119882, five genetic models, allelic (C vs. T, P=0.000), codominant (the homozygote (CC vs. TT, P=0.000) and heterozygote model (CT vs. TT, P=0.02), dominant (CC + CT vs. TT, P=0.03) and recessive model (CC vs. CT + TT, P=0.000) showed significant statistical associations with PCOS. Conclusion: MTNR1B rs10830963 and MTNR1B rs2119882 polymorphisms are associated with PCOS risk. However, the above conclusions still require being confirmed by much larger multi-ethnic studies.


2018 ◽  
Vol Volume 11 ◽  
pp. 851-865 ◽  
Author(s):  
Zhixin Ling ◽  
Zonghao You ◽  
Ling Hu ◽  
Lei Zhang ◽  
Yiduo Wang ◽  
...  

Author(s):  
Luiz Alexandre Chisini ◽  
Mariana Gonzalez Cademartori ◽  
Marcus Cristian Muniz Conde ◽  
Francine dos Santos Costa ◽  
Luana Carla Salvi ◽  
...  

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