Abstract
BackgroundThe 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.Material and MethodsIn 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.ResultsThere 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.Conclusionsrs2893321 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.
Highlights
B cells play a critical role in maintaining a normal adaptive immune response, through modulating T-cell functions, antibody formation, and inflammatory cytokine production [1]
We first demonstrate that genetic variants of the B-lymphocyteactivating factor (BAFF) are associated with Graves’ disease (GD) and Autoimmune thyroid disease (AITD), and genetic impacts show a dimorphic pattern
The single-nucleotide polymorphisms (SNPs), rs2893321, may be a susceptible genetic variant for the development of GD and AITD, which was apparent in females but not in males
Summary
B cells play a critical role in maintaining a normal adaptive immune response, through modulating T-cell functions, antibody formation, and inflammatory cytokine production [1]. Evidence shows that a decline in the BAFF leads to a B-cell deficiency, while adding the BAFF to the circulation facilitates B-cell proliferation and increased serum antibody levels [4]. BAFF overexpression in transgenic mice led to peripheral B-cell proliferation and lupus-like autoimmune features [5]. Several studies showed that serum BAFF was increased in several autoimmune diseases (AIDs), including systemic lupus erythematous (SLE), rheumatoid arthritis (RA), primary biliary cirrhosis, and Sjögren's syndrome (SS) [6,7,8]. 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). We explored possible associations of two BAFF single-nucleotide polymorphisms (SNPs), rs1041569 and rs2893321, with autoimmune thyroid diseases (AITDs) in an ethnic Chinese population
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