IL-17 and IL-38 gene polymorphisms in thyroid-associated ophthalmopathy

Area of Science:

• Genetics
• Immunology
• Endocrinology

Background:

• Thyroid-associated ophthalmopathy (TAO) is an autoimmune condition linked to Graves' disease (GD), involving orbital inflammation and fibrosis.
• Gene polymorphisms in IL-17 and IL-38 cytokines are hypothesized to influence TAO development and progression.

Purpose of the Study:

• To investigate the association between IL-17 (rs9463772 C/T in IL17F) and IL-38 (rs3811058 C/T, rs7570267 A/G in IL1F10) gene polymorphisms and TAO in Graves' disease patients.
• To identify potential genetic predispositions for TAO in a Kazakhstani population.

Main Methods:

• A case-control study involving 132 TAO patients and 153 non-TAO patients with GD.
• Genotyping was performed using the TaqMan™ Master Mix kit.
• Allele and genotype frequencies were compared between groups, with subgroup analysis for Caucasians.

Main Results:

• Smokers showed a higher predisposition to develop TAO (OR=1.682, p=0.03).
• No significant overall associations were found between the studied gene polymorphisms and TAO development in GD patients.
• In Caucasian patients, the IL1F10 rs3811058 CC genotype (OR=2.7, p=0.02) and specific allele differences (OR=2.8, p=0.001) were significantly associated with an increased risk of TAO.

Conclusions:

• Specific IL1F10 gene polymorphisms (rs3811058) may confer a genetic predisposition to TAO in Caucasian GD patients.
• These findings highlight the need for further research into genetic factors influencing TAO.
• The identified genetic associations could inform the development of novel therapeutic strategies for TAO.