GWAS-identified multiple sclerosis risk loci involved in immune response: Validation in Russians

Bashinskaya, Vitalina; Кулакова, О. Г.; Kiselev, Ivan; Baulina, Natalia; Favorov, Alexander V.; Boyko, A. N.; Tsareva, Ekaterina; Фаворова, О. О.

doi:10.1016/j.jneuroim.2015.03.015

Cited by 29 publications

(24 citation statements)

References 53 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Americans (Isobe et al, 2013(Isobe et al, , 2015. On the other hand, our results are in disagreement with the only other study performed in Slavs which showed no individual association between rs1800693 and MS in the Russian population (Bashinskaya et al, 2015). 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).…”

Section: Discussioncontrasting

confidence: 92%

“…Moreover, a not quite significant association was also observed in the Spanish population (Swaminathan et al, 2010). On the other hand, the current study in Slovaks as well as several other similarly sized studies performed in various populations failed to detect or replicate this finding (Bashinskaya et al, 2015;Hoffjan et al, 2015;Jenne et al, 2007;Kauffman et al, 2012;Kümpfel et al, 2007).…”

Section: Snp Rs4149584 G/a Located In Exon 4 Is a Low-frequency Codingcontrasting

confidence: 90%

“…Recently, a study in Russians failed to replicate individual associations of the two TNFRSF1A SNPs with MS, suggesting possible interpopulation differences in the genetic background of the disease (Bashinskaya et al, 2015). The aim of this study was to validate the association of TNFRSF1A rs1800693 and rs4149584 SNPs with MS in the Central European Slovak population, determine their effect on age at disease onset, MS severity and progression and examine whether these associations are affected by sex or HLA-DRB1*15:01 allele.…”

mentioning

confidence: 97%

See 2 more Smart Citations

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

Section: Discussioncontrasting

confidence: 92%

Section: Snp Rs4149584 G/a Located In Exon 4 Is a Low-frequency Codingcontrasting

confidence: 90%

mentioning

confidence: 97%

See 1 more Smart Citation

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

show abstract

“…Для анализа однонуклеотидного полимор-физма (SNP) c.731С>Т в экзоне 6 гена IL7RA (rs6897932) использовали метод аллелеспецифиче-ской ПЦР, для SNP 10228A>G в 1 интроне гена IL2RA (rs2104286) -метод ПЦР в реальном времени с помощью технологии TaqMan, для SNP 16253T>C в 6-м интроне гена TNFRSF1A (rs1800693) -метод ПЦР с анализом полиморфизма длин рестрикцион-ных фрагментов [15].…”

Section: материал и методыunclassified

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

Кулакова

Bashinskaya

Tsareva

et al. 2016

Z. nevrol. psikhiatr. im. S.S. Korsakova

View full text Add to dashboard Cite

“…SLC22A3 , a multispecific organic cation transporter, participates in complex metabolic processes in vivo , including transport, inactivation and excretion of various endogenous and exogenous carcinogens . It has been reported that the protein can not only transport antitumor drugs such as oxaliplatin and irinotecan, but also is associated with some endogenous substances, e.g., dopamine, epinephrine, norepinephrine, histamine, and 5‐hydroxytryptamine . Norepinephrine and adrenergic receptor signaling pathways were reported to be associated with the development and progression of colorectal cancer.…”

Section: Discussionmentioning

confidence: 99%

Genetic variants in SLC22A3 contribute to the susceptibility to colorectal cancer

Ren

Sun

et al. 2019

Intl Journal of Cancer

View full text Add to dashboard Cite

Previous a genome‐wide association study (GWAS) of colorectal cancer in Japanese population has identified a risk region at the chromosome 6q26‐q27 associated with colorectal cancer risk. However, the causal gene at this locus remained unclear. In our study, we enrolled a total of 14 candidate functional single nucleotide polymorphisms (SNPs) at 6q26‐q27 (318 kb), and then genotyped them by TaqMan method in a Chinese population including 1,147 colorectal cancer cases and 1,203 controls. Among that, 5 SNPs were identified statistical association with colorectal cancer risk by logistic regression analysis. Of which, SNP rs420038 G > A in SLC22A3 was related to decreased risk of colorectal cancer (adjusted odds ratio (OR) = 0.79, 95% confidence interval (CI) = 0.67–0.94, p = 0.007), and also associated with lower expression of SLC22A3 ( p = 0.040) using expression quantitative trait loci (eQTL) analysis. Moreover, by the luciferase assays, we found that compared to the G allele of rs420038, the A allele could suppress the activity of the promoter in SLC22A3 . Furthermore, the expression of SLC22A3 was significantly higher in colorectal cancer tissues than that in paired normal tissues ( p < 0.001). Meanwhile, the phenotypes of proliferation, migration, invasion, cell cycle and apoptosis of colorectal cancer cell were significantly affected by SLC22A3 in vitro . Our results revealed a novel susceptible locus, rs420038 in SLC22A3 , which may be involved in colorectal cancer development and progression.

show abstract

GWAS-identified multiple sclerosis risk loci involved in immune response: Validation in Russians

Cited by 29 publications

References 53 publications

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

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

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

Genetic variants in SLC22A3 contribute to the susceptibility to colorectal cancer

Contact Info

Product

Resources

About