Significant Association Between Fc Receptor-Like 3 Polymorphisms (-1901A>G and -658C>T) and Neuromyelitis Optica (NMO) Susceptibility in the Chinese Population

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• 作者：Xinling Wang ; Tao Yu ; Qichang Yan ; Wei Wang ; Nan Meng ; Xuejiao Li…
• 关键词：FCRL3 ; Neuromyelitis optica ; Polymorphism ; Genetic ; Association
• 刊名：Molecular Neurobiology
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：53
• 期：1
• 页码：686-694
• 全文大小：521 KB
• 参考文献：1.Asgari N, Lillevang ST, Skejoe HPB, Falah M, Stenager E, Kyvik KO (2011) A population-based study of neuromyelitis optica in Caucasians. Neurology 76(18):1589–1595CrossRef PubMed PubMedCentral
  2.Cabrera-Gómez JA, Kurtzke JF, González-Quevedo A, Lara-Rodríguez R (2009) An epidemiological study of neuromyelitis optica in Cuba. J Neurol 256(1):35–44CrossRef PubMed
  3.Cossburn M, Tackley G, Baker K, Ingram G, Burtonwood M, Malik G, Pickersgill T, te Water Naudé J, Robertson N (2012) The prevalence of neuromyelitis optica in South East Wales. Eur J Neurol 19(4):655–659CrossRef PubMed
  4.Mealy MA, Wingerchuk DM, Greenberg BM, Levy M (2012) Epidemiology of neuromyelitis optica in the United States: a multicenter analysis. Arch Neurol 69(9):1176–1180CrossRef PubMed
  5.Rivera JF, Kurtzke JF, Booth VJA, Corona VT (2008) Characteristics of Devic’s disease (neuromyelitis optica) in Mexico. J Neurol 255(5):710–715CrossRef PubMed
  6.Uzawa A, Mori M, Kuwabara S (2014) Neuromyelitis optica: concept, immunology and treatment. J Clin Neurosci 21(1):12–21. doi:10.​1016/​j.​jocn.​2012.​12.​022 CrossRef PubMed
  7.Jarius S, Wildemann B, Paul F (2014) Neuromyelitis optica: clinical features, immunopathogenesis and treatment. Clin Exp Immunol 176(2):149–164CrossRef PubMed PubMedCentral
  8.Wingerchuk DM, Hogancamp WF, O’Brien PC, Weinshenker BG (1999) The clinical course of neuromyelitis optica (Devic’s syndrome). Neurology 53(5):1107–1114CrossRef PubMed
  9.Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR (2005) IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med 202(4):473–477CrossRef PubMed PubMedCentral
  10.Lennon VA, Wingerchuk DM, Kryzer TJ, Pittock SJ, Lucchinetti CF, Fujihara K, Nakashima I, Weinshenker BG (2004) A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 364(9451):2106–2112CrossRef PubMed
  11.Ratelade J, Verkman AS (2012) Neuromyelitis optica: aquaporin-4 based pathogenesis mechanisms and new therapies. Int J Biochem Cell Biol 44(9):1519–1530CrossRef PubMed PubMedCentral
  12.Davis RS, Dennis G Jr, Odom MR, Gibson AW, Kimberly RP, Burrows PD, Cooper MD (2002) Fc receptor homologs: newest members of a remarkably diverse Fc receptor gene family. Immunol Rev 190:123–136CrossRef PubMed
  13.Song GG, Bae SC, Kim JH, Kim YH, Choi SJ, Ji JD, Lee YH (2013) Association between functional Fc receptor-like 3 (FCRL3) -169 C/T polymorphism and susceptibility to seropositive rheumatoid arthritis in Asians: a meta-analysis. Hum Immunol 74(9):1206–1213. doi:10.​1016/​j.​humimm.​2013.​05.​018 CrossRef PubMed
  14.Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae SC, Tokuhiro S, Chang X, Sekine A, Takahashi A, Tsunoda T, Ohnishi Y, Kaufman KM, Kang CP, Kang C, Otsubo S, Yumura W, Mimori A, Koike T, Nakamura Y, Sasazuki T, Yamamoto K (2005) A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet 37(5):478–485. doi:10.​1038/​ng1540 CrossRef PubMed PubMedCentral
  15.Han SW, Sa KH, Kim SI, Lee SI, Park YW, Lee SS, Yoo WH, Kang JY, Soe JS, Nam EJ, Lee J, Park JY, Kang YM (2012) FCRL3 gene polymorphisms contribute to the radiographic severity rather than susceptibility of rheumatoid arthritis. Hum Immunol 73(5):537–542. doi:10.​1016/​j.​humimm.​2012.​02.​011 CrossRef PubMed
  16.Bajpai UD, Swainson LA, Mold JE, Graf JD, Imboden JB, McCune JM (2012) A functional variant in FCRL3 is associated with higher Fc receptor-like 3 expression on T cell subsets and rheumatoid arthritis disease activity. Arthritis Rheum 64(8):2451–2459. doi:10.​1002/​art.​34457 CrossRef PubMed PubMedCentral
  17.Zhao SX, Liu W, Zhan M, Song ZY, Yang SY, Xue LQ, Pan CM, Gu ZH, Liu BL, Wang HN, Liang L, Liang J, Zhang XM, Yuan GY, Li CG, Chen MD, Chen JL, Gao GQ, Song HD (2013) A refined study of FCRL genes from a genome-wide association study for Graves’ disease. PLoS One 8(3):7
  18.Zheng R, Zhao Z, Zhang S, Li R (2009) Study on the association of 3 SNPs of FcRL3 gene with Graves disease in Chongqing Han population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26(6):681–685. doi:10.​3760/​cma.​j.​issn.​ 1003-9406.​2009.​06.​016 PubMed
  19.Inoue N, Watanabe M, Yamada H, Takemura K, Hayashi F, Yamakawa N, Akahane M, Shimizuishi Y, Hidaka Y, Iwatani Y (2012) Associations between autoimmune thyroid disease prognosis and functional polymorphisms of susceptibility genes, CTLA4, PTPN22, CD40, FCRL3, and ZFAT, previously revealed in genome-wide association studies. J Clin Immunol 32(6):1243–1252CrossRef PubMed
  20.Chen JY, Wang CM, Wu YJ, Kuo SN, Shiu CF, Chang SW, Lin YT, Ho HH, Wu J (2011) Disease phenotypes and gender association of FCRL3 single-nucleotide polymorphism -169 T/C in Taiwanese patients with systemic lupus erythematosus and rheumatoid arthritis. J Rheumatol 38(2):264–270. doi:10.​3899/​jrheum.​100437 CrossRef PubMed
  21.Sanchez E, Callejas JL, Sabio JM, de Haro M, Camps M, de Ramon E, Garcia-Hernandez FJ, Koeleman B, Martin J, Gonzalez-Escribano MF (2006) Polymorphisms of the FCRL3 gene in a Spanish population of systemic lupus erythematosus patients. Rheumatology (Oxford) 45(8):1044–1046. doi:10.​1093/​rheumatology/​kel160 CrossRef
  22.You Y, Wang Z, Deng G, Hao F (2008) Lack of association between Fc receptor-like 3 gene polymorphisms and systemic lupus erythematosus in Chinese population. J Dermatol Sci 52(2):118–122. doi:10.​1016/​j.​jdermsci.​2008.​04.​011 CrossRef PubMed
  23.Piotrowski P, Lianeri M, Prokop E, Wudarski M, Olesinska M, Jagodzinski PP (2014) The FCRL3 -169T>C polymorphism might be associated with some autoantibody presence in patients with SLE in a Polish population. Mod Rheumatol 24(2):296–299. doi:10.​3109/​14397595.​2013.​854066 CrossRef PubMed
  24.Tanaka A, Ohira H, Kikuchi K, Nezu S, Shibuya A, Bianchi I, Podda M, Invernizzi P, Takikawa H (2011) Genetic association of Fc receptor-like 3 polymorphisms with susceptibility to primary biliary cirrhosis: ethnic comparative study in Japanese and Italian patients. Tissue Antigens 77(3):239–243. doi:10.​1111/​j.​1399-0039.​2010.​01600.​x CrossRef PubMed
  25.Mendoza JL, Lana R, Martin MC, de la Concha EG, Urcelay E, Diaz-Rubio M, Abreu MT, Mitchell AA (2009) FcRL3 gene promoter variant is associated with peripheral arthritis in Crohn’s disease. Inflamm Bowel Dis 15(9):1351–1357. doi:10.​1002/​ibd.​20895 CrossRef PubMed
  26.Plagnol V, Howson JM, Smyth DJ, Walker N, Hafler JP, Wallace C, Stevens H, Jackson L, Simmonds MJ, Bingley PJ, Gough SC, Todd JA (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genet 7(8):e1002216. doi:10.​1371/​journal.​pgen.​1002216 CrossRef PubMed PubMedCentral
  27.Howson JM, Krause S, Stevens H, Smyth DJ, Wenzlau JM, Bonifacio E, Hutton J, Ziegler AG, Todd JA, Achenbach P (2012) Genetic association of zinc transporter 8 (ZnT8) autoantibodies in type 1 diabetes cases. Diabetologia 55(7):1978–1984. doi:10.​1007/​s00125-012-2540-2 CrossRef PubMed PubMedCentral
  28.Mondal AK, Sharma NK, Elbein SC, Das SK (2013) Allelic expression imbalance screening of genes in chromosome 1q21-24 region to identify functional variants for type 2 diabetes susceptibility. Physiol Genomics 45(13):509–520. doi:10.​1152/​physiolgenomics.​00048.​2013 CrossRef PubMed PubMedCentral
  29.Matesanz F, Fernandez O, Milne RL, Fedetz M, Leyva L, Guerrero M, Delgado C, Lucas M, Izquierdo G, Alcina A (2008) The high producer variant of the Fc-receptor like-3 (FCRL3) gene is involved in protection against multiple sclerosis. J Neuroimmunol 195(1–2):146–150. doi:10.​1016/​j.​jneuroim.​2008.​01.​004 CrossRef PubMed
  30.Li K, Zhao M, Hou S, Du L, Kijlstra A, Yang P (2008) Association between polymorphisms of FCRL3, a non-HLA gene, and Behcet’s disease in a Chinese population with ophthalmic manifestations. Mol Vis 14:2136–2142PubMed PubMedCentral
  31.Hou S, Kijlstra A, Yang P (2012) The genetics of Behcet’s disease in a Chinese population. Front Med 6(4):354–359. doi:10.​1007/​s11684-012-0234-2 CrossRef PubMed
  32.Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinshenker BG (2006) Revised diagnostic criteria for neuromyelitis optica. Neurology 66(10):1485–1489CrossRef PubMed
  33.Kochi Y, Myouzen K, Yamada R, Suzuki A, Kurosaki T, Nakamura Y, Yamamoto K (2009) FCRL3, an autoimmune susceptibility gene, has inhibitory potential on B-cell receptor-mediated signaling. J Immunol 183(9):5502–5510. doi:10.​4049/​jimmunol.​0901982 CrossRef PubMed
  34.Swainson LA, Mold JE, Bajpai UD, McCune JM (2010) Expression of the autoimmune susceptibility gene FcRL3 on human regulatory T cells is associated with dysfunction and high levels of programmed cell death-1. J Immunol 184(7):3639–3647. doi:10.​4049/​jimmunol.​0903943 CrossRef PubMed PubMedCentral
  
• 作者单位：Xinling Wang (1)
  Tao Yu (2)
  Qichang Yan (1)
  Wei Wang (2)
  Nan Meng (2)
  Xuejiao Li (1)
  Yahong Luo (2)
  
  1. Department of Ophthalmology, the Fourth Affiliated Hospital, China Medical University, 11 Xinhua Road, Heping District, Shenyang, 110005, China
  2. Department of Medical Image, Liaoning Cancer Hospital & Institute, Shenyang, 110042, China
  
• 刊物主题：Neurosciences; Neurobiology; Cell Biology; Neurology;
• 出版者：Springer US
• ISSN：1559-1182

文摘

Neuromyelitis optica (NMO) is an autoimmune disorder. In pathogenesis, NMO-immunoglobulin G (NMO-IgG) selectively binds to aquaporin-4 (AQP4) and resulted in neuritis, myelitis, and brain lesion. Fc receptor-like 3 (FCRL3) gene encodes a member of the immunoglobulin receptor superfamily, which plays an important part in regulating immune activities. This study aimed at investigating the association between FCRL3 polymorphisms and NMO susceptibility and, hopefully, to contribute to the development of novel methods for diagnosis and treatment of NMO. We selected 150 NMO patients and 300 healthy controls from the Chinese population. Tag single nucleotide polymorphisms (SNPs) were identified with reference to CBI-dbSNP and HapMap databases. DNA were extracted and amplified. Matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF-MS) was applied to determine the polymorphisms. χ 2, odds ratio (OR), and 95 % confidence interval (95 % CI) were presented to evaluate genotype distribution and association between SNPs and NMO susceptibility. Six out of 15 SNPs were selected according to the filter. No significant altered genotype distribution was observed concerning -11G>C, -166C>T, -219G>C, and -1629C>G polymorphisms. The G allele of -1901A>G variation was demonstrated to be more frequent in patients compared with controls (P < 0.001). The T allele of -658C>T polymorphism was significantly more prevalent in NMO patients than controls (P = 0.009). In summary, the study revealed that the G allele in -1901A>G polymorphism and T allele in -658C>T polymorphism are genetic risk factors for NMO in the Chinese population. Further research is needed to account for different ethnicities and clarify the mechanisms behind, which might contribute to the elucidation of novel diagnosis methods.