title: Analysis of Associations of Human BAFF Gene Polymorphisms with Autoimmune Thyroid Diseases.
abstract: The B-lymphocyte-activating factor (BAFF) is associated with B-cell functions, and gene polymorphisms of the BAFF have been linked to autoimmune diseases (AIDs). In this study, we explored possible associations of two BAFF single-nucleotide polymorphisms (SNPs), rs1041569 and rs2893321, with autoimmune thyroid diseases (AITDs) in an ethnic Chinese population.
  
  
  
  In total, 319 Graves' disease (GD), 83 Hashimoto's thyroiditis (HT) patients, and 369 healthy controls were enrolled. Polymerase chain reaction-restriction fragment length polymorphism and direct sequencing were used to genotype rs2893321 and rs1041569.
  
  
  
  There was a significant difference in frequencies of the G allele and AG+GG genotype of rs2893321 between the GD and control groups (p = 0.013, odds ratio (OR) = 0.76, and p = 0.017, OR = 0.68, respectively) and between the AITD and control groups (p = 0.009, OR = 0.76, and, p = 0.014, OR = 0.69, respectively). The AA genotype of rs2893321 was associated with low titers of the thyroid-stimulating hormone receptor antibody (TSHRAb) (p = 0.015) in males but not in females. The AA genotype of rs2893321 was associated with the presence of two different types of thyroid autoantibody (TAb) (TSHRAb and Hashimoto's autoantibody (anti-thyroglobulin or anti-microsomal antibody)) in females and with that of one type in males.
  
  
  
  rs2893321 may be a susceptible genetic variant for the development of GD and AITDs. Associations of rs2893321 with susceptibility to GD and AITDs and the correlation between rs2893321 and TAb exhibit a dimorphic pattern. Additional studies with larger sample sizes are required to confirm our findings.
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.|Division of Endocrinology, Department of Internal Medicine, Shuang-Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.|Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
authors.forename: Jiunn-Diann
authors.initials: JD
authors.lastname: Lin
authors.affiliation: Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.|Department of Medical Research, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Shun-Fa
authors.initials: SF
authors.lastname: Yang
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.|Department of Medical Research, Shuang-Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Yuan-Hung
authors.initials: YH
authors.lastname: Wang
authors.affiliation: Department of Family Medicine, Shuang-Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Wen-Fang
authors.initials: WF
authors.lastname: Fang
authors.affiliation: Department of Family Medicine, Shuang-Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Ying-Chin
authors.initials: YC
authors.lastname: Lin
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.|Division of Nephrology, Department of Internal Medicine, Shuang-Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Yuh-Feng
authors.initials: YF
authors.lastname: Lin
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Veterans General Hospital, Taipei, Taiwan.
authors.forename: Kam-Tsun
authors.initials: KT
authors.lastname: Tang
authors.affiliation: Division of Nephrology, Department of Internal Medicine, Shuang-Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
authors.forename: Mei-Yi
authors.initials: MY
authors.lastname: Wu
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
authors.forename: Chao-Wen
authors.initials: CW
authors.lastname: Cheng
mesh_terms: D000328:Adult; D000483:Alleles; D053264:B-Cell Activating Factor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006111:Graves Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D050031:Hashimoto Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013959:Thyroid Diseases / Q000235:genetics*
chemical_list: D053264:B-Cell Activating Factor; C505719:TNFSF13B protein, human