Association between the TAP2 gene codon 665 polymorphism and Graves' disease.

Area of Science:

• Immunogenetics
• Molecular Biology
• Endocrinology

Background:

• Graves' disease (GD) is an autoimmune disorder affecting the thyroid.
• Genetic factors, including gene polymorphisms, are implicated in GD susceptibility.
• The transporter associated with antigen processing 2 (TAP2) gene plays a role in immune responses.

Purpose of the Study:

• To investigate the association between single-site polymorphisms of the TAP2 gene and Graves' disease.
• To determine if TAP2 gene polymorphisms at codons 379, 565, and 665 contribute to GD susceptibility.

Main Methods:

• Genotyping of 95 GD patients and 105 healthy controls using polymerase chain reaction (PCR)-based restriction analysis.
• Analysis of TAP2 gene polymorphisms at codons 379, 565, and 665.
• Statistical analysis of genotype and allele frequencies, including odds ratios (OR) and confidence intervals (CI).

Main Results:

• A significant association was found between TAP2 gene polymorphism at codon 665 and GD.
• Increased frequency of the AA homozygote and AG heterozygote at codon 665 in GD patients compared to controls (P<0.001).
• Reduced G allele and enhanced A allele frequencies observed in GD patients at codon 665 (P=0.0001).

Conclusions:

• The single-site polymorphism of the TAP2 gene at codon 665 is associated with Graves' disease.
• This specific TAP2 gene polymorphism may serve as a predictive indicator for GD development.
• Polymorphisms at codons 379 and 565 showed no significant association with GD in this study.