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

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.

Download Full-text

Significant association of TNF-α, but not other pro-inflammatory cytokines, single nucleotide polymorphisms with intervertebral disc degeneration in Iranian population

Clinical Neurology and Neurosurgery ◽

10.1016/j.clineuro.2018.08.008 ◽

2018 ◽

Vol 173 ◽

pp. 77-83 ◽

Cited By ~ 4

Author(s):

Sina Abdollahzade ◽

Sara Hanaei ◽

Maryam Sadr ◽

Mohammad Hossein Mirbolouk ◽

Ehsan Fattahi ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Intervertebral Disc ◽

Disc Degeneration ◽

Inflammatory Cytokines ◽

Intervertebral Disc Degeneration ◽

Iranian Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Tnf Α ◽

Pro Inflammatory Cytokines

Download Full-text

Lack of association between COL1A1 and COL9A2 single nucleotide polymorphisms and intervertebral disc degeneration

British Journal of Neurosurgery ◽

10.1080/02688697.2020.1765971 ◽

2020 ◽

pp. 1-3

Author(s):

Sara Hanaei ◽

Sina Abdollahzade ◽

Maryam Sadr ◽

Ehsan Fattahi ◽

Mohammad Hossein Mirbolouk ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Intervertebral Disc ◽

Disc Degeneration ◽

Intervertebral Disc Degeneration ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

Download Full-text

Association of IL10 and TGFB single nucleotide polymorphisms with intervertebral disc degeneration in Iranian population: a case control study

BMC Medical Genetics ◽

10.1186/s12881-018-0572-2 ◽

2018 ◽

Vol 19 (1) ◽

Author(s):

Sara Hanaei ◽

Sina Abdollahzade ◽

Maryam Sadr ◽

Mohammad Hossein Mirbolouk ◽

Alireza Khoshnevisan ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Intervertebral Disc ◽

Disc Degeneration ◽

Intervertebral Disc Degeneration ◽

Case Control Study ◽

Case Control ◽

Iranian Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Control Study

Download Full-text

Genetic aspects of intervertebral disc degeneration

Reviews in the Neurosciences ◽

10.1515/revneuro-2014-0077 ◽

2015 ◽

Vol 26 (5) ◽

pp. 581-606 ◽

Cited By ~ 14

Author(s):

Sara Hanaei ◽

Sina Abdollahzade ◽

Alireza Khoshnevisan ◽

Christopher K. Kepler ◽

Nima Rezaei

Keyword(s):

Intervertebral Disc ◽

Disc Degeneration ◽

Intervertebral Disc Degeneration ◽

Genetic Factors ◽

Wide Spectrum ◽

Nucleotide Polymorphisms ◽

Disc Disease ◽

Multifactorial Diseases ◽

Common Causes

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.

Download Full-text

Association between melatonin receptor gene polymorphisms and polycystic ovarian syndrome: a systematic review and meta-analysis

Bioscience Reports ◽

10.1042/bsr20200824 ◽

2020 ◽

Vol 40 (6) ◽

Author(s):

Shiqi Yi ◽

Jiawei Xu ◽

Hao Shi ◽

Wenbo Li ◽

Qian Li ◽

...

Keyword(s):

Systematic Review ◽

Single Nucleotide Polymorphisms ◽

Polycystic Ovarian Syndrome ◽

Meta Analysis ◽

Genetic Models ◽

Cochrane Library ◽

Nucleotide Polymorphisms ◽

Melatonin Receptor ◽

Single Nucleotide ◽

Ovarian Syndrome

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.

Download Full-text