Plasma VEGF-related polymorphisms are implied in autoimmune thyroid diseases

Area of Science:

• Endocrinology
• Genetics
• Immunology

Background:

• Autoimmune thyroid diseases (AITD), including Graves' disease (GD) and Hashimoto thyroiditis (HT), are complex multifactorial conditions.
• Vascular Endothelial Growth Factor (VEGF) plays a role in inflammatory and autoimmune processes.

Purpose of the Study:

• To investigate the association between specific VEGF-related single nucleotide polymorphisms (SNPs) and AITD in a Tunisian population.
• To explore the relationship between these SNPs, plasma VEGF levels, and thyroid hormone profiles.

Main Methods:

• Genotyping of four VEGF-associated SNPs (rs6921438, rs4416670, rs6993770, rs10738760) in 389 AITD patients and 364 healthy controls.
• Quantification of plasma VEGF, thyroid hormones, and antibodies after six months of treatment.
• Statistical analysis to determine associations between SNPs, disease status, and clinical parameters.

Main Results:

• The minor alleles of rs10738760 and rs6921438 were associated with the presence of Graves' disease (GD).
• The A allele of rs10738760 was linked to higher free tri-iodothyronine (FT3) levels post-treatment, but not VEGF levels.
• The T allele of rs4416670 was associated with an increased risk of hyperthyroidism after treatment.
• No significant associations were found between the studied SNPs and Hashimoto thyroiditis (HT) risk.

Conclusions:

• Three VEGF-associated SNPs influence AITD, with specific variants implicated in GD risk and thyroid hormone regulation.
• rs10738760 is specifically linked to GD and FT3 levels, while rs6921438 and rs4416670 are associated with GD risk.
• These findings suggest potential for pharmacogenomic applications in managing GD, particularly concerning treatment response and prognosis.