Four FCRL3 Gene Polymorphisms (FCRL3_3, _5, _6, _8) Confer Susceptibility to Multiple Sclerosis: Results from a Case-Control Study

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• 作者：Menghui Yuan ; Longxiao Wei ; Runsuo Zhou ; Qianrong Bai ; Yixin Wei…
• 关键词：Multiple sclerosis ; FCRL3 gene ; Single ; nucleotide polymorphisms ; Haplotype
• 刊名：Molecular Neurobiology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：53
• 期：3
• 页码：2029-2035
• 全文大小：336 KB
• 参考文献：1.Martinez A, Mas A, de Las Heras V, Bartolome M, Arroyo R, Fernandez-Arquero M, de la Concha EG, Urcelay E (2007) FcRL3 and multiple sclerosis pathogenesis: role in autoimmunity? J Neuroimmunol 189(1–2):132–136. doi:10.​1016/​j.​jneuroim.​2007.​06.​018 CrossRef PubMed
  2.Matesanz F, Fernandez O, Milne RL, Fedetz M, Leyva L, Guerrero M, Delgado C, Lucas M et al (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
  3.Dyment DA, Ebers GC, Dessa Sadovnick A (2004) Genetics of multiple sclerosis. Lancet Neurol 3(2):104–110CrossRef PubMed
  4.Fedetz M, Matesanz F, Caro‐Maldonado A, Fernandez O, Tamayo J, Guerrero M, Delgado C, López Guerrero J et al (2006) OAS1 gene haplotype confers susceptibility to multiple sclerosis. Tissue Antigens 68(5):446–449CrossRef PubMed
  5.Leyva L, Fernández O, Fedetz M, Blanco E, Fernández VE, Oliver B, León A, Pinto-Medel M-J et al (2005) IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response. J Neuroimmunol 163(1):165–171CrossRef PubMed
  6.Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae SC, Tokuhiro S et al (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
  7.Sanchez E, Callejas JL, Sabio JM, de Haro M, Camps M, de Ramon E, Garcia-Hernandez FJ, Koeleman B et al (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
  8.Simmonds MJ, Heward JM, Carr-Smith J, Foxall H, Franklyn JA, Gough SC (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves’ disease. J Clin Endocr Metab 91(3):1056–1061. doi:10.​1210/​jc.​2005-1634 CrossRef PubMed
  9.Thabet MM, Wesoly J, Slagboom PE, Toes RE, Huizinga TW (2007) FCRL3 promoter 169 CC homozygosity is associated with susceptibility to rheumatoid arthritis in Dutch Caucasians. Ann Rheum Dis 66(6):803–806. doi:10.​1136/​ard.​2006.​064949 CrossRef PubMed PubMedCentral
  10.Umemura T, Ota M, Hamano H, Katsuyama Y, Kiyosawa K, Kawa S (2006) Genetic association of Fc receptor-like 3 polymorphisms with autoimmune pancreatitis in Japanese patients. Gut 55(9):1367–1368. doi:10.​1136/​gut.​2006.​095059 CrossRef PubMed PubMedCentral
  11.Capon F, Semprini S, Chimenti S, Fabrizi G, Zambruno G, Murgia S, Carcassi C, Fazio M et al (2001) Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol 116(5):728–730. doi:10.​1046/​j.​1523-1747.​2001.​01311.​x CrossRef PubMed
  12.Dai KZ, Harbo HF, Celius EG, Oturai A, Sorensen PS, Ryder LP, Datta P, Svejgaard A et al (2001) The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis. Gen Immun 2(5):263–268. doi:10.​1038/​sj.​gene.​6363774 CrossRef
  13.Chistiakov DA, Chistiakov AP (2007) Is FCRL3 a new general autoimmunity gene? Hum Immunol 68(5):375–383. doi:10.​1016/​j.​humimm.​2007.​01.​013 CrossRef PubMed
  14.Ravetch JV, Bolland S (2001) IgG Fc receptors. Annu Rev Immunol 19:275–290. doi:10.​1146/​annurev.​immunol.​19.​1.​275 CrossRef PubMed
  15.Owen CJ, Kelly H, Eden JA, Merriman ME, Pearce SH, Merriman TR (2007) Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association. J Clin Endocr Metab 92(3):1106–1111. doi:10.​1210/​jc.​2006-2183 CrossRef PubMed
  16.Poser CM, Paty DW, Scheinberg L, McDonald WI, Davis FA, Ebers GC, Johnson KP, Sibley WA et al (1983) New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 13(3):227–231. doi:10.​1002/​ana.​410130302 CrossRef PubMed
  17.Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263–265. doi:10.​1093/​bioinformatics/​bth457 CrossRef PubMed
  18.Eyre S, Bowes J, Potter C, Worthington J, Barton A (2006) Association of the FCRL3 gene with rheumatoid arthritis: a further example of population specificity? Arthritis Res Therapy 8(4):R117. doi:10.​1186/​ar2006 CrossRef
  19.Begovich AB, Chang M, Schrodi SJ (2007) Meta-analysis evidence of a differential risk of the FCRL3–169 T– > C polymorphism in white and East Asian rheumatoid arthritis patients. Arthritis Rheum 56(9):3168–3171. doi:10.​1002/​art.​22857 CrossRef PubMed
  20.Duchatelet S, Caillat-Zucman S, Dubois-Laforgue D, Blanc H, Timsit J, Julier C (2008) FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traits. Biomed Pharmacother 62(3):153–157. doi:10.​1016/​j.​biopha.​2007.​09.​003 CrossRef PubMed
  21.Ikari K, Momohara S, Nakamura T, Hara M, Yamanaka H, Tomatsu T, Kamatani N (2006) Supportive evidence for a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis. Ann Rheum Dis 65(5):671–673. doi:10.​1136/​ard.​2005.​043489 CrossRef PubMed PubMedCentral
  22.Newman WG, Zhang Q, Liu X, Walker E, Ternan H, Owen J, Johnson B, Greer W et al (2006) Rheumatoid arthritis association with the FCRL3–169C polymorphism is restricted to PTPN22 1858 T-homozygous individuals in a Canadian population. Arthritis Rheum 54(12):3820–3827. doi:10.​1002/​art.​22270 CrossRef PubMed
  23.Martinez A, Sanchez E, Valdivia A, Orozco G, Lopez-Nevot MA, Pascual-Salcedo D, Balsa A, Fernandez-Gutierrez B et al (2006) Epistatic interaction between FCRL3 and NFkappaB1 genes in Spanish patients with rheumatoid arthritis. Ann Rheum Dis 65(9):1188–1191. doi:10.​1136/​ard.​2005.​048454 CrossRef PubMed PubMedCentral
  24.Hu X, Chang M, Saiki RK, Cargill MA, Begovich AB, Ardlie KG, Criswell LA, Seldin MF et al (2006) The functional − 169 T → C single‐nucleotide polymorphism in FCRL3 is not associated with rheumatoid arthritis in white North Americans. Arthritis Rheum 54(3):1022–1025CrossRef PubMed
  25.Turunen JA, Wessman M, Kilpikari R, Parkkonen M, Forsblom C, Groop PH (2006) The functional variant -169C/T in the FCRL3 gene does not increase susceptibility to Type 1 diabetes. Diabet Med 23(8):925–927. doi:10.​1111/​j.​1464-5491.​2006.​01848.​x CrossRef PubMed
  26.Smyth DJ, Howson JM, Payne F, Maier LM, Bailey R, Holland K, Lowe CE, Cooper JD et al (2006) Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases. BMC Med Gen 7:20. doi:10.​1186/​1471-2350-7-20 CrossRef
  27.Zhao SX, Liu W, Zhan M, Song ZY, Yang SY, Xue LQ, Pan CM, Gu ZH et al (2013) A refined study of FCRL genes from a genome-wide association study for Graves’ disease. PLoS One 8(3):e57758. doi:10.​1371/​journal.​pone.​0057758 CrossRef PubMed PubMedCentral
  28.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 = Zhonghua yixue yichuanxue zazhi = Chin J Med Gen 26(6):681–685. doi:10.​3760/​cma.​j.​issn.​ 1003-9406.​2009.​06.​016
  29.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
  30.Ehrhardt GR, Leu CM, Zhang S, Aksu G, Jackson T, Haga C, Hsu JT, Schreeder DM et al (2007) Fc receptor-like proteins (FCRL): immunomodulators of B cell function. Adv Exp Med Biol 596:155–162. doi:10.​1007/​0-387-46530-8_​14 CrossRef PubMed
  31.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
  32.Steinman L, Zamvil S (2003) Transcriptional analysis of targets in multiple sclerosis. Nat Rev Immunol 3(6):483–492. doi:10.​1038/​nri1108 CrossRef PubMed
  33.Steinman L (2009) A molecular trio in relapse and remission in multiple sclerosis. Nat Rev Immunol 9(6):440–447. doi:10.​1038/​nri2548 CrossRef PubMed
  
• 作者单位：Menghui Yuan (1)
  Longxiao Wei (1)
  Runsuo Zhou (1)
  Qianrong Bai (1)
  Yixin Wei (1)
  Wei Zhang (1)
  Yong Huang (1)
  
  1. Department of Nuclear Medicine, Tangdu Hospital, the Fourth Military Medical University (FMMU), No. 569 Xinsi Road, Baqiao District, Xi’an, 710038, China
  
• 刊物主题：Neurosciences; Neurobiology; Cell Biology; Neurology;
• 出版者：Springer US
• ISSN：1559-1182

文摘

Multiple sclerosis (MS) is an autoimmune/inflammatory neurodegenerative disease which mainly affects the central nervous system in young adults. Fc-receptor-like-3 (FCRL3) gene, which involved in immune cell regulation, has drawn lots of attentions. This study aims to investigate the association between common polymorphisms of FCRL3 gene and MS risk in a Chinese Han population. Nine single nucleotide polymorphisms (SNPs) were genotyped in 120 patients and 240 healthy controls through PCR assay. t test and chi-square test was conducted to find a possible association between FCRL3 genetic mutations and risk of MS. This analysis results performed that four SNPs, rs7528684 (FCRL3_3), rs945635 (FCRL3_5), rs3761959 (FCRL3_6), and rs2282284 (FCRL3_8), were significantly associated with the risk of MS. Further haplotype analysis showed two haplotypes of FCRL3_3, 5, 6, 8, CCAG and CGAG, presented the significant associations with the susceptibility to MS. Four SNPs in FCRL3 gene could possibly associate with the susceptibility of MS in a Chinese Han population. Moreover, the haplotype analysis confirmed that the linkage disequilibrium exists in polymorphisms in FCRL3. Based on the supporting evidence, we deduced that FCRL3_3C, FCRL3_5C, FCRL3_6A, and FCRL3_8G caused increased risk of MS. Nevertheless, large cohort studies are required in the future to validate the autoimmune function.