Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population

• Published in: Chinese medical journal 2015-07, Vol.128 (13), p.1743-1747
• Main Authors: Liu, Qi-Bing, Wu, Lei, Zhao, Gui-Xian, Cai, Ping-Ping, Li, Zhen-Xin, Wu, Zhi-Ying
• Format: Article
• Language: English
• Subjects: Adult; Aquaporins; Asian Continental Ancestry Group - genetics; Association; Chinese; Interferon Regulatory Factor 5; Multiple Sclerosis; Neuromyelitis Optica; Autoimmune diseases; Bowel disease; Brain research; China; Collaboration; Cytokines; Desorption; Diagnosis; Female; Genes; Genetic aspects; Genetic Predisposition to Disease - genetics; Genotype; Health aspects; Hospitals; Humans; Immunoglobulins; Interferon; Interferon Regulatory Factors - genetics; Lasers; Lupus; Male; Mass spectrometry; Middle Aged; Multiple sclerosis; Multiple Sclerosis - genetics; Neurology; Neuromyelitis optica; Neuromyelitis Optica - genetics; Original; Polymorphism, Single Nucleotide - genetics; Population; Rheumatoid arthritis; Risk factors; Scientific imaging; Single nucleotide polymorphisms; Spinal cord; 基质辅助激光解吸电离飞行时间质谱; 多发性硬化; 干扰素; 汉族人群; 脊髓炎; 自身免疫性疾病; 视神经; 调节因子
• ISSN: 0366-6999; 2542-5641
• DOI: 10.4103/0366-6999.159347

Background： Neuromyelitis optica （NMO） and multiple sclerosis （MS） are demyelinating disorders of the central nervous system. Interferon regulatory factor 5 （IRF5） is a common susceptibility gene to different autoimmune disorders. However, the association of IRF5 variants with NMO and MS patients has not been well studied. Therefore, we aimed to evaluate whether IRF5 variants were associated with NMO and MS in the Southeastenl Han Chinese population. Methods： Four single nucleotide polymorphisnls （SNPs） were selected and genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry in 111 NMO patients, 145 MS patients and 300 controls from Southeastern China. Results： None of these 4 SNPs was associated with NMO or MS patients. Conclusions： Our preliminary study indicates that genetic variants in IRI~ may affect neither NMO nor MS in the Southeastern Han Chinese population. Further studies with a large sample size and diverse ancestry populations are needed to clarify this isstie.