Associations of TNFRSF1A Polymorphisms with Autoimmune Thyroid Diseases: A Case-Control Study

Area of Science:

• Immunogenetics
• Endocrinology
• Autoimmunity

Background:

• Polymorphisms in the tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) gene are associated with various inflammatory and autoimmune diseases.
• The specific role of TNFRSF1A gene polymorphisms in autoimmune thyroid diseases (AITD), including Hashimoto's thyroiditis (HT) and Graves' disease (GD), remains unclear, particularly in the Chinese Han population.

Purpose of the Study:

• To investigate the association between five single nucleotide polymorphisms (SNPs) in the TNFRSF1A gene and AITD in the Chinese Han population.
• To determine if specific TNFRSF1A SNPs are linked to Hashimoto's thyroiditis (HT) or Graves' disease (GD).

Main Methods:

• A case-control study involving 1812 subjects (965 AITD patients and 847 healthy controls).
• Genotyping of five TNFRSF1A SNPs (rs4149576, rs4149577, rs4149570, rs1800693, rs767455) using ligase detection reaction.
• Analysis of allele, genotype, and haplotype frequencies, with adjustments for age and gender.

Main Results:

• No significant differences in allele or genotype frequencies were observed for any of the five TNFRSF1A SNPs between AITD patients (HT or GD) and controls (all p > 0.05).
• A moderate association was detected between the rs4149570 polymorphism and HT after adjusting for age and gender (odds ratio=1.40, p=0.03).
• No significant differences in haplotype distribution were found between AITD patients and controls.

Conclusions:

• The studied five SNPs in the TNFRSF1A gene are generally not associated with AITD in the Chinese Han population.
• The rs4149570 polymorphism shows a weak association with Hashimoto's thyroiditis, warranting further investigation.