CD226 Gly307Ser Association With Neuromyelitis Optica in Southern Han Chinese

Liu, Chao; Wang, Guansan; Liu, Hong; Li, Yue; Li, Jin; Dai, Yongqiang

doi:10.1017/s0317167100014001

Cited by 18 publications

(8 citation statements)

References 19 publications

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“…Other non-HLA genes exert an increase in relative risk for NMO/NMOSD pathogeneses that range from modest to high. This is the case for CYP7A1 that is associated with alterations in transcriptional regulation [ 59 ], IL17 which produces high levels of IL-17 [ 60 ], CD2 26 that affects T-cell signaling [ 61 ], PD1 that interferes in T-cell activation [ 54 ], CD4 0 that produces alterations in the TNFR family [ 62 ], and CD5 8 that is involved in cell adhesion [ 63 ]. Table 1 summarizes the presence of genetic variants associated with other NADs.…”

Section: Genetic Factorsmentioning

confidence: 99%

Identifying the culprits in neurological autoimmune diseases

Acosta-Ampudia

Monsalve

Ramírez-Santana

2019

Journal of Translational Autoimmunity

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The target organ of neurological autoimmune diseases (NADs) is the central or peripheral nervous system. Multiple sclerosis (MS) is the most common NAD, whereas Guillain-Barré syndrome (GBS), myasthenia gravis (MG), and neuromyelitis optica (NMO) are less common NADs, but the incidence of these diseases has increased exponentially in the last few years. The identification of a specific culprit in NADs is challenging since a myriad of triggering factors interplay with each other to cause an autoimmune response. Among the factors that have been associated with NADs are genetic susceptibility, epigenetic mechanisms, and environmental factors such as infection, microbiota, vitamins, etc. This review focuses on the most studied culprits as well as the mechanisms used by these to trigger NADs.

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Section: Genetic Factorsmentioning

confidence: 99%

Identifying the culprits in neurological autoimmune diseases

Acosta-Ampudia

Monsalve

Ramírez-Santana

2019

Journal of Translational Autoimmunity

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“…Interestingly, rs9272219 and rs1964995 have been associated with other autoimmune diseases such as rheumatoid arthritis and dermatomyositis in different populations (Eleftherohorinou et al, 2011;Hao et al, 2014). Few non-HLA candidate gene studies have been conducted in NMOSD (Asgari et al, 2012;Liu et al, 2012;Wang et al, 2012;Kim et al, 2014;Zhuang et al, 2015), and as far as we know, TMPO has not been previously identified as a susceptibility gene in GWAS, nor has it has been studied as a candidate gene for any autoimmune disorder. Although experimental evidence on the role of TMPO and LAP2 in autoimmunity is limited, it has been demonstrated that LAP2 binds to lamin B1 in vitro (Foisner and Gerace, 1993).…”

Section: Discussionmentioning

confidence: 99%

“…Other HLA class II risk alleles have been associated with NMOSD in different ethnic groups. A limited number of candidate gene association studies have also reported associations of NMOSD with individual polymorphisms in a few genes involved in immune function, including PD-1, IL-17, IL-7R, CD226, and CD58 (Asgari et al, 2012;Liu et al, 2012;Wang et al, 2012;Kim et al, 2014;Zhuang et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Interaction of HLA Class II rs9272219 and TMPO rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population

et al. 2021

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Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating autoimmune disease of the central nervous system, more prevalent in individuals of non-European ancestry. Few studies have analyzed genetic risk factors in NMOSD, and HLA class II gene variation has been associated NMOSD risk in various populations including Mexicans. Thymopoietin (TMPO) has not been tested as a candidate gene for NMOSD or other autoimmune disease, however, experimental evidence suggests this gene may be involved in negative selection of autoreactive T cells and autoimmunity. We thus investigated whether the missense TMPO variant rs17028450 (Arg630Cys, frequent in Latin America) is associated with NMOSD, and whether this variant shows an interaction with HLA-class II rs9272219, previously associated with NMOSD risk. A total of 119 Mexican NMOSD patients, 1208 controls and 357 Native Mexican individuals were included. The HLA rs9272219 “T” risk allele frequency ranged from 21 to 68%, while the rs17028450 “T” minor allele frequency was as high as 18% in Native Mexican groups. Both rs9272219 and rs17028450 were significantly associated with NMOSD risk under additive models (OR = 2.48; p = 8 × 10–10 and OR = 1.59; p = 0.0075, respectively), and a significant interaction between both variants was identified with logistic regression models (p = 0.048). Individuals bearing both risk alleles had an estimated 3.9-fold increased risk of NMOSD. To our knowledge, this is the first study reporting an association of TMPO gene variation with an autoimmune disorder and the interaction of specific susceptibility gene variants, that may contribute to the genetic architecture of NMOSD in admixed Latin American populations.

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“…Statistical analyses including a replication study showed that a common promoter SNP in CYP7A1 on chromosome 8q11‐q12 has a protective effect against the risk of NMO. Some studies aimed at determining whether MS‐associated SNPs and genes also contribute to NMO susceptibility have suggested the genetic contribution of CD226 , TNFRSF1A , and GPC5 for NMO. To date, there have been only a few reports that also included replication studies.…”

Section: Neuromyelitis Opticamentioning

confidence: 99%

Genetic studies of multiple sclerosis and neuromyelitis optica: Current status in European, African American and Asian populations

Isobe

Oksenberg

2014

Clinical & Exp Neuroim

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Multiple sclerosis (MS) pathogenesis results from both genetic and environmental factors. Genome-wide association studies (GWAS) have contributed considerably to our understanding of MS susceptibility through identification of genetic variants influencing risk and quantitation of their effect sizes. Immunologically relevant genes, including genes in the major histocompatibility complex region, are the primary genetic contributors to MS susceptibility. MS prevalence differs according to population, and most GWAS carried out to date have used datasets from people of European descent. Interpretation and application of GWAS results from Europeans to other populations require a good understanding of the genetic characteristics of each population, such as linkage disequilibrium patterns. The heterogeneity in global MS prevalence is partially explained by differences in risk allele frequencies in populations, which are due to the effects of migration, adaptation to new environments and genetic heterogeneity. Genetic studies of different populations can be expected to narrow down the putative causative regions and improve our understanding of MS pathogenesis. The literature record of genetic studies of neuromyelitis optica is much shorter than that of MS. Genes associated with neuromyelitis optica have been reported in the major histocompatibility complex region, as well as at other genetic loci, but only the susceptibility associated with the HLA-DPB1*05:01 and HLA-DRB1*03 alleles, and the association of a CYP7A single nucleotide polymorphism have been replicated. Here, we describe important genetic studies of MS and neuromyelitis optica in Europeans, African Americans, and Asians, and discuss the implications for disease incidence and future directions for genetic research. (Clin. Exp. Neuroimmunol.

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CD226 Gly307Ser Association With Neuromyelitis Optica in Southern Han Chinese

Cited by 18 publications

References 19 publications

Identifying the culprits in neurological autoimmune diseases

Identifying the culprits in neurological autoimmune diseases

Interaction of HLA Class II rs9272219 and TMPO rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population

Genetic studies of multiple sclerosis and neuromyelitis optica: Current status in European, African American and Asian populations

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