Association between STAT4 gene polymorphisms and autoimmune thyroid diseases in a Chinese population

Area of Science:

• Genetics
• Immunology
• Endocrinology

Background:

• Autoimmune thyroid diseases (AITDs), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), involve complex genetic and environmental factors.
• The STAT4 gene encodes a transcription factor crucial for cytokine signaling pathways implicated in autoimmune disease development.

Purpose of the Study:

• To investigate the association between STAT4 gene polymorphisms and the risk of developing Graves' disease (GD) and Hashimoto's thyroiditis (HT).

Main Methods:

• Genotyping of STAT4 polymorphisms (rs7574865, rs10181656, rs7572482) using multiplex polymerase chain reaction (PCR) and ligase detection reaction (LDR).
• Analysis of genotype and allele frequencies in 1048 AITD patients (693 GD, 355 HT) and 909 controls from a Chinese population.

Main Results:

• Significant differences in rs7574865 genotype frequencies and higher T allele frequency in GD patients compared to controls.
• Significant differences in rs10181656 genotypes and higher G allele frequency in AITD patients (GD and HT) compared to controls.
• Haplotype analysis revealed lower frequencies of GC and higher frequencies of TG in AITD patients (GD and HT) compared to controls.

Conclusions:

• STAT4 polymorphisms rs7574865 and rs10181656 are associated with an increased risk of autoimmune thyroid diseases in the Chinese population.
• These findings highlight the role of STAT4 in the pathogenesis of GD and HT, suggesting potential genetic susceptibility factors.