Association of TNFSF4 Polymorphisms with Neuromyelitis Optica Spectrum Disorders in a Chinese Population
Autor: | Ju Liu, Qin Zhang, Hongyu Zhou, Qin Du, Xiaohui Miao, Ziyan Shi, Zhiyun Lian, Hongxi Chen, Huiru Feng |
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Rok vydání: | 2017 |
Předmět: |
Adult
Male 0301 basic medicine China Linkage disequilibrium medicine.medical_specialty Neurology OX40 Ligand Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine medicine Humans Neurochemistry Allele Autoimmune disease Neuromyelitis Optica Haplotype General Medicine Middle Aged medicine.disease 030104 developmental biology Case-Control Studies Cohort Immunology Female 030217 neurology & neurosurgery |
Zdroj: | Journal of Molecular Neuroscience. 63:396-402 |
ISSN: | 1559-1166 0895-8696 |
DOI: | 10.1007/s12031-017-0990-1 |
Popis: | The tumor necrosis factor ligand superfamily member 4 (TNFSF4) gene encodes a vital co-stimulatory molecule of the immune system and has been identified as a susceptibility locus for systemic lupus erythematosus, systemic sclerosis, and primary Sjogren’s syndrome. However, the association of TNFSF4 polymorphisms with neuromyelitis optica spectrum disorders (NMOSD), an inflammatory, demyelinating autoimmune disease of the central nervous system, has not yet been investigated. To evaluate whether TNFSF4 polymorphisms contribute to risk of NMOSD, four single-nucleotide polymorphisms (SNPs) (rs1234315, rs2205960, rs704840, and rs844648) were selected and genotyped in a cohort of 312 patients with NMOSD and 487 healthy controls. Our study showed that rs844648 was associated with an increased risk of NMOSD, according to the allelic model (OR = 1.30, 95% CI 1.06–1.59, P = 0.011, Pcorr = 0.044). Significant associations of rs844648 (OR = 1.67, 95% CI 1.17–2.38, P = 0.005, Pcorr = 0.02) and rs704840 (OR = 1.75, 95% CI 1.17–2.63, P = 0.007, Pcorr = 0.027) with NMOSD occurrence were also observed under the recessive model. Moreover, linkage disequilibrium analysis revealed two blocks within TNFSF4; in one block, the haplotype Ars844648Grs704840 significantly increased the risk of NMOSD, whereas Grs844648Trs704840 reduced the risk. This study demonstrates an association between TNFSF4 polymorphisms and susceptibility for the development of NMOSD in the Chinese population. |
Databáze: | OpenAIRE |
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