Association Between FOXP3 rs2232368 Variant and Hashimoto's Thyroiditis Risk: A Case-Control Study

Area of Science:

• Immunogenetics
• Endocrinology
• Autoimmunity

Background:

• Hashimoto's thyroiditis (HT) pathogenesis involves immune tolerance dysregulation.
• FOXP3 gene variations, crucial for T-regulatory cell function, may influence HT susceptibility.
• The role of specific FOXP3 polymorphisms in HT is under-researched, especially in Middle Eastern populations.

Purpose of the Study:

• To investigate the association between the FOXP3 rs2232368 polymorphism and HT susceptibility in an Iraqi cohort.
• To examine the relationship between this polymorphism and thyroid function parameters (TSH, T3, T4).

Main Methods:

• A case-control study involving 60 HT patients and 40 healthy controls from Baghdad.
• FOXP3 rs2232368 genotyping using Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR).
• Thyroid function tests (TSH, T3, T4) measured using the mini VIDAS® system.

Main Results:

• HT patients showed significant thyroid dysfunction compared to controls (p < 0.001 for TSH, T3, T4).
• The AA genotype of FOXP3 rs2232368 was significantly associated with increased HT risk (OR = 4.66, p = 0.017).
• The A allele demonstrated a strong association with HT susceptibility (OR = 2.98, p = 0.001), even after adjusting for BMI and thyroid parameters.

Conclusions:

• FOXP3 rs2232368 is identified as a significant genetic risk factor for Hashimoto's thyroiditis in the Iraqi population.
• The AA genotype confers a nearly five-fold increased susceptibility to HT.
• Findings contribute to understanding HT's genetic basis and may aid risk stratification in Middle Eastern populations.