title: Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China.
abstract: BACKGROUND
  Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nerve system. Interleukin-7 (IL-7) and interleukin-7 receptor alpha (IL-7Rα) were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes. The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations. However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population. Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastern China.
  
  
  METHODS
  Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system) and Sanger sequencing were used to determine the variants of IL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China. Samples were excluded if the genotyping success rate <90%.
  
  
  RESULTS
  Statistical differences were observed in the genotypes of IL-7 rs1520333 in MS patients and IL-7RA rs6897932 in NMO patients, compared with healthy controls (P = 0.035 and 0.034, respectively). There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P = 0.014). And there were statistically significant differences in the rs6897932 genotypes (P = 0.004) and alleles (P = 0.042) between NMO-IgG positive patients and healthy controls.
  
  
  CONCLUSIONS
  The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients. And the genotypic differences of IL-7 rs2887502 between MS and NMO indicated the different genetic backgrounds of these two diseases.
authors.forename: Jing-Cong
authors.initials: JC
authors.lastname: Zhuang
authors.forename: Lei
authors.initials: L
authors.lastname: Wu
authors.forename: Mei-Zhen
authors.initials: MZ
authors.lastname: Qian
authors.forename: Ping-Ping
authors.initials: PP
authors.lastname: Cai
authors.forename: Qi-Bing
authors.initials: QB
authors.lastname: Liu
authors.forename: Gui-Xian
authors.initials: GX
authors.lastname: Zhao
authors.forename: Zhen-Xin
authors.initials: ZX
authors.lastname: Li
authors.affiliation: Department of Neurology, Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350004; Department of Neurology, Research Center of Neurology, Second Affiliated Hospital, The Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China.
authors.forename: Zhi-Ying
authors.initials: ZY
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D015851:Interleukin-7 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009471:Neuromyelitis Optica / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D020395:Receptors, Interleukin-7; D055815:Young Adult
chemical_list: D015851:Interleukin-7; D020395:Receptors, Interleukin-7; C415350:interleukin-7 receptor, alpha chain