Association analysis of cytokine receptors’ genes polymorphisms with clinical features of multiple sclerosis

Кулакова, О. Г.; Bashinskaya, Vitalina; Tsareva, Ekaterina; Boyko, A. N.; Фаворова, О. О.; Gusev, E I

doi:10.17116/jnevro201611610210-15

Cited by 5 publications

(4 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, this study only suggests that ANKRD55 exists in CD4+Tcells, but the positive or negative effect of ANKRD55 protein on T lymphocytes was not determined. HT is clinical comorbidity with other autoimmune diseases, that is, patients with HT can have multiple other autoimmune diseases, such as RA and MS. ese two diseases have been reported to share the same pathogenic genes and risk loci with HT [31][32][33]. Similarly, our results showed that the A allele of rs7731626 was reduced in AITD, which is consistent with RA [19]and MS [34].…”

Section: Discussionsupporting

confidence: 85%

Association of ANKRD55 Gene Polymorphism with HT: A Protective Factor for Disease Susceptibility

Fang

Zhao

Zhuang

et al. 2022

International Journal of Endocrinology

View full text Add to dashboard Cite

Purpose. Recent studies have shown that Ankyrin Repeat Domain 55 (ANKRD55) gene polymorphism is a risk factor for multiple autoimmune diseases, but its association with autoimmune thyroid diseases (AITDs) has not been reported. The purpose of this study was to investigate the potential relationship between polymorphism of the ANKRD55 gene and AITDs. Methods. For this study, we enrolled 2050 subjects, consisting of 1220 patients with AITD and 830 healthy subjects. Five loci (rs321776, rs191205, rs7731626, rs415407, and rs159572) of the ANKRD55 gene were genotyped using Multiplex PCR combined with high-throughput sequencing. Results. The results showed that the allele frequencies of rs7731626 and rs159572 loci in HT patients were lower than those in normal controls ( P = 0.048 and P = 0.03 , respectively). In different genetic model analyses, rs7731626 and rs159572 were also significantly correlated with HT in allele, dominant and additive models before and after age and sex adjustment. There were no differences in rs321776, rs191205, or rs415407 of the ANKRD55 gene in allele frequency or genotype frequency between AITDs patients and controls. Conclusions. This study for the first time found that rs7731626 and rs159572 of ANKRD55 were significantly correlated with HT, and individuals carrying the A allele at these two loci had a lower probability of developing HT.

show abstract

Section: Discussionsupporting

confidence: 85%

Association of ANKRD55 Gene Polymorphism with HT: A Protective Factor for Disease Susceptibility

Fang

Zhao

Zhuang

et al. 2022

International Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

“…The results of phenotype–genotype analyses in Slovak MS patients showed no evidence for association between rs1800693 and the age of disease onset, MS severity or progression, which is consistent with most other studies performed in patients of predominantly European origin (Baranzini et al, ; Brynedal et al, ; Comabella et al, ; George et al, ; IMSGC et al, ; IMSGC, ; Lin et al, ; Ottoboni et al, ; Pan et al, ). However, possible effect of rs1800693 on disease course cannot be fully excluded yet, as suggested by a recent study in Russians which reported an association of C allele with moderate‐to‐severe MS (MSSS > 3) and unfavourable variants of MS manifestation, such as motor disorders, brainstem disorders, impaired coordination, pelvic disorders, mental disorders or polysymptomatic onset (Kulakova et al, ). By contrast, a study in African Americans reported opposite effect of rs1800693 on MS severity, with the C allele being associated with reduced MSSS (Johnson et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Further analyses in subgroups stratified by sex or presence of the major MS risk allele consistent with most other studies performed in patients of predominantly European origin (Baranzini et al, 2009;Brynedal et al, 2010;Comabella et al, 2013;George et al, 2016;IMSGC et al, 2013IMSGC et al, , 2011IMSGC, 2011a;Lin et al, 2014;Ottoboni et al, 2013;Pan et al, 2016). However, possible effect of rs1800693 on disease course cannot be fully excluded yet, as suggested by a recent study in Russians which reported an association of C allele with moderate-to-severe MS (MSSS > 3) and unfavourable variants of MS manifestation, such as motor disorders, brainstem disorders, impaired coordination, pelvic disorders, mental disorders or polysymptomatic onset (Kulakova et al, 2016). By contrast, a study in African…”

Section: Discussionmentioning

confidence: 99%

TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population

Javor

Shawkatová

Ďurmanová

et al. 2018

Int J Immunogenetics

View full text Add to dashboard Cite

Tumour necrosis factor (TNF)-mediated signalling plays a key role in inflammatory and neurodegenerative processes leading to the development of multiple sclerosis (MS). Recent studies have highlighted the role of tumour necrosis factor receptor superfamily member 1A (TNFRSF1A) gene encoding the type 1 TNF receptor in the genetic predisposition to MS. This study aimed to validate the association of TNFRSF1A rs1800693 and rs4149584 polymorphisms with susceptibility to MS in the Slovak population and analyse their influence on age at disease onset, severity, and disability progression. Polymerase chain reaction-restriction fragment length polymorphism method was used to genotype both TNFRSF1A polymorphisms in 541 MS patients and 724 healthy controls. Logistic regression analysis revealed a significantly increased risk of developing MS for the carriers of rs1800693 C allele (TC + CC vs. TT: pcorr = 0.005; OR = 1.61; 95% CI = 1.23-2.12), irrespective of sex and carriage of the major MS risk allele HLA-DRB1*15:01. On the other hand, no association could be found between rs4149584 and MS risk (GA + AA vs. GG: pcorr = 1.00; OR = 1.25; 95% CI = 0.71-2.21). Moreover, neither polymorphism was significantly associated with age at disease onset, MS Severity Score (MSSS) or MS Progression Index (PI) in any of the inheritance models. In conclusion, our results provide support for a sex- and HLA-DRB1*15:01-independent association of TNFRSF1A rs1800693 SNP with MS susceptibility, but not with age at disease onset, severity or rate of disability accumulation.

show abstract

“…Kulakova and colleagues observed that, in their Russian cohort, MS patients that carried the T allele showed favorable manifestations of the autoimmune disorder (optic neuritis or sensory disturbances), whereas carriers of the C allele presented with manifestations that are associated with worse prognosis (eg, motor disorders, brain stem disorders, impaired coordination). 104 Furthermore, some studies have reported that the rs6897932 SNP was associated with a progressive courses of MS, indicating that this SNP may be a determinant of the disease course. 105,106 Taken together, although MS is a complex and multifactorial disease, with various genetic and environmental factors involved, the balance of evidence suggests that the rs6897932 SNP is involved in its pathogenesis, either being associated with a higher susceptibility to MS or a determinant of the disease severity.…”

Section: Multiple Sclerosis (Ms) and Other Demyelinating Autoimmune Dmentioning

confidence: 99%

Soluble IL-7Rα/sCD127 in Health, Disease, and Its Potential Role as a Therapeutic Agent

Barros¹,

Berthoud²,

Aloufi³

et al. 2021

ITT

View full text Add to dashboard Cite

Soluble cytokine receptors can influence immune responses by modulating the biological functions of their respective ligands. These effects can be either agonistic or antagonistic and a number of soluble cytokine receptors have been shown to play critical roles in both maintenance of health and disease pathogenesis. Soluble IL-7Ra (sCD127) is one such example. With its impact on the IL-7/CD127 pathway, which is fundamental for the development and homeostasis of T cells, the role of sCD127 in health and disease has been extensively studied in recent years. Within this review, the role of sCD127 in maintaining host immune function is presented. Next, by addressing genetic factors affecting sCD127 expression and the associated levels of sCD127 production, the roles of sCD127 in autoimmune disease, infections and cancer are described. Finally, advances in the field of soluble cytokine therapy and the potential for sCD127 as a biomarker and therapeutic agent are discussed.

show abstract

Association analysis of cytokine receptors’ genes polymorphisms with clinical features of multiple sclerosis

Cited by 5 publications

References 18 publications

Association of ANKRD55 Gene Polymorphism with HT: A Protective Factor for Disease Susceptibility

Association of ANKRD55 Gene Polymorphism with HT: A Protective Factor for Disease Susceptibility

TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population

Soluble IL-7Rα/sCD127 in Health, Disease, and Its Potential Role as a Therapeutic Agent

Contact Info

Product

Resources

About