Interleukin 17 gene polymorphism is associated with anti-aquaporin 4 antibody-positive neuromyelitis optica in the Southern Han Chinese — A case control study

Wang, Honghao; Zhong, Xiaonan; Wang, Kai; Qiu, Wei; Jin, Li; Dai, Yongqiang; Hu, Xueqiang

doi:10.1016/j.jns.2011.11.005

Cited by 41 publications

(21 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…An association study between 2 SNPs in the IL17 gene with NMO and MS carried out in the Southern Han Chinese population demonstrated that the frequencies of T allele and TT genotype of rs763780 were dramatically higher in NMO patients than controls, suggesting that rs763780 may be a susceptibility locus for autoimmune diseases. Moreover, increased levels of serum IL-17 and IL-17 secreting T cells were found in NMO patients, suggesting that IL17 may be a candidate gene in the pathogenesis of NMO [57].…”

Section: Non-hla Genetic Factorsmentioning

confidence: 99%

“…Interleukin 17 (IL-17) A and IL-17F are known to play an important role in many autoimmune diseases including NMO [57]. Polymorphisms in IL17A and IL17F have been associated with autoimmune disorders [57][58][59][60].…”

Section: Non-hla Genetic Factorsmentioning

confidence: 99%

“…Polymorphisms in IL17A and IL17F have been associated with autoimmune disorders [57][58][59][60]. An association study between 2 SNPs in the IL17 gene with NMO and MS carried out in the Southern Han Chinese population demonstrated that the frequencies of T allele and TT genotype of rs763780 were dramatically higher in NMO patients than controls, suggesting that rs763780 may be a susceptibility locus for autoimmune diseases.…”

Section: Non-hla Genetic Factorsmentioning

confidence: 99%

See 2 more Smart Citations

Epidemiological, clinical, and immunological characteristics of neuromyelitis optica: A review

Pereira

Reiche

Kallaur

et al. 2015

Journal of the Neurological Sciences

View full text Add to dashboard Cite

The aim of this study was to review the epidemiological and clinical characteristics of neuromyelitis optica (NMO) and the immunopathological mechanisms involved in the neuronal damage. NMO is an inflammatory demyelinating autoimmune disease of the central nervous system that most commonly affects the optic nerves and spinal cord. NMO is thought to be more prevalent among non-Caucasians and where multiple sclerosis (MS) prevalence is low. NMO follows a relapsing course in more than 80-90% of cases, which is more commonly in women. It is a complex disease with an interaction between host genetic and environmental factors and the main immunological feature is the presence of anti-aquaporin 4 (AQP4) antibodies in a subset of patients. NMO is frequently associated with multiple other autoantibodies and there is a strong association between NMO with other systemic autoimmune diseases. AQP4-IgG can cause antibody-dependent cellular cytotoxicity (ADCC) when effector cells are present and complement-dependent cytotoxicity (CDC) when complement is present. Acute therapies, including corticosteroids and plasma exchange, are designed to minimize injury and accelerate recovery. Several aspects of NMO pathogenesis remain unclear. More advances in the understanding of NMO disease mechanisms are needed in order to identify more specific biomarkers to NMO diagnosis.

show abstract

Section: Non-hla Genetic Factorsmentioning

confidence: 99%

Section: Non-hla Genetic Factorsmentioning

confidence: 99%

Section: Non-hla Genetic Factorsmentioning

confidence: 99%

See 1 more Smart Citation

Epidemiological, clinical, and immunological characteristics of neuromyelitis optica: A review

Pereira

Reiche

Kallaur

et al. 2015

Journal of the Neurological Sciences

View full text Add to dashboard Cite

show abstract

“…However, the genetics of NMO susceptibility remain largely unknown. Recently, the interleukin 17 (IL-17) and HLA-DPB1*0501 allele were reported to be associated with Asian NMO patients positive for the NMO-IgG antibody [12][13][14][15][16][17] , and there was a suggestion that the emergence of anti-AQP4 antibody is reinforced by the presence of the HLA-DPB*0501 and IL-17 allele [13,15] . In addition, CYP7A1 was reported to be associated with Korean NMO patients [18] .…”

Section: Introductionmentioning

confidence: 99%

Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population

Zhao

Liu

et al. 2013

Neurosci. Bull.

View full text Add to dashboard Cite

Multiple sclerosis (MS) and neuromyelitis optica (NMO) are common autoimmune demyelinating disorders of the central nervous system. The exact etiology of each remains unclear. CYP7A1 was reported to be associated with NMO in Korean patients, but this is yet to be confirmed in other populations. In this study, we used Sanger sequencing to detect SNPs in the promoter region of CYP7A1 in a population consisting of unrelated patients and controls from the Han Chinese population (129 MS; 89 NMO; 325 controls). Two known SNPs, −204A>C (rs3808607) and −469T>C (rs3824260), and a novel SNP (−208G>C) were identified in the 5'-UTR of CYP7A1. The −204A>C was in complete linkage with −469T>C and both were associated with NMO but not with MS. Results suggest that the CYP7A1 allele was associated with NMO. NMO and MS have different genetic risk factors. This further supports the emerging evidence that MS and NMO are distinct disorders.

show abstract

“…In vitro, recombinant HMGB1 can stimulate naïve CD4+ T cells which differentiate into Th17 cells and induce the production of IL-17 [17]. In our previous studies, we have proved that Th17 cells and Th17-associated cytokines such as IL-6 and IL-17 were increased in MS and NMO patients [18,19,20]. However, whether or not HMGB1 is altered in MS and NMO patients has not been clarified yet.…”

Section: Introductionmentioning

confidence: 99%

Cerebrospinal Fluid High-Mobility Group Box Protein 1 in Neuromyelitis Optica and Multiple Sclerosis

Wang¹,

Wang²,

Xu³

et al. 2013

Neuroimmunomodulation

Self Cite

View full text Add to dashboard Cite

Background: Neuromyelitis optica (NMO) and multiple sclerosis (MS) are two autoimmune inflammatory demyelinating diseases in the central nervous system. Interleukin (IL)-6 and IL-17 may play important roles in the pathogenesis of these diseases. High-mobility group box protein 1 (HMGB1) can activate the nuclear factor light chain enhancer of activated B cells and release cytokines such as IL-6 and IL-17. However, whether cerebrospinal fluid (CSF) HMGB1 levels were altered in NMO and MS patients is still unclear. Objectives: It was our aim to measure the CSF HMGB1 concentration in NMO patients and explore their relationship with IL-6, IL-17 and disease activity. Methods: CSF HMGB1 was measured by enzyme-linked immunosorbent assay in NMO (n = 22) and MS (n = 18) patients as well as in controls (n = 14). Results: CSF HMGB1 was notably higher in the NMO group compared with controls (p = 0.007). CSF HMGB1 positively correlated with IL-6 and IL-17 in NMO patients (IL-6, p = 0.034; IL-17, p < 0.001). Conclusions: In conclusion, our study suggests that CSF levels of HMGB1 are increased in patients with NMO and reflect the neuroinflammatory process.

show abstract

Interleukin 17 gene polymorphism is associated with anti-aquaporin 4 antibody-positive neuromyelitis optica in the Southern Han Chinese — A case control study

Cited by 41 publications

References 21 publications

Epidemiological, clinical, and immunological characteristics of neuromyelitis optica: A review

Epidemiological, clinical, and immunological characteristics of neuromyelitis optica: A review

Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population

Cerebrospinal Fluid High-Mobility Group Box Protein 1 in Neuromyelitis Optica and Multiple Sclerosis

Contact Info

Product

Resources

About