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

Mussakulova A. Balmukhanova A. Aubakirova A. Khamdiyeva O. Zhunussova G. Balmukhanova A.
December 2024 Springer Science and Business Media B.V.

International Ophthalmology
2024 #44 Issue 1

Background: Thyroid-associated ophthalmopathy (TAO) is an autoimmune condition commonly linked with Graves’ disease (GD), characterized by orbital tissue inflammation and fibrosis. It is hypothesized that gene polymorphisms may influence production of the IL-17 and IL-38 cytokines, thereby impacting TAO development and progression. This study focused on investigating the gene polymorphisms of IL-17 (rs9463772 C/T in IL17F) and IL-38 (rs3811058 C/T, rs7570267 A/G in IL1F10) in patients with GD. Methods: A case–control study was conducted on 132 patients with TAO and 153 patients without TAO according to eligibility criteria. After clinical examination blood samples were collected for further investigations. Genotyping was performed with the TaqMan™ Master Mix kit. Allele and genotype frequencies were compared between studied groups and subgroups. Results: No significant differences were found in age, duration of GD, or thyroid hormone between patients with and without TAO. However, a higher predisposition to develop TAO was observed among smokers (OR = 1.682, p = 0.03). Overall, no significant associations between gene polymorphisms and TAO development were identified in GD patients. Further analysis revealed that the CC genotype in IL1F10 rs3811058 polymorphism among Caucasians was associated with an increased risk of TAO (OR = 2.7, p = 0.02), as well as allele differences were also significant (OR = 2.8, p = 0.001). Conclusions: These findings shed light on TAO genetic predispositions in Kazakhstani GD patients, notably among Caucasians, underscoring the need for further research. These results may offer valuable targets for the development of novel treatments for TAO.

Gene polymorphisms , Graves’ disease , Interleukin , Thyroid-associated ophthalmopathy

Text of the article Перейти на текст статьи

Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan
Al-Farabi Kazakh National University, Almaty, Kazakhstan
Kazakh Eye Research Institute, Almaty, Kazakhstan
Institute of Genetics and Physiology, Almaty, Kazakhstan
Caspian University, Almaty, Kazakhstan

Asfendiyarov Kazakh National Medical University
Al-Farabi Kazakh National University
Kazakh Eye Research Institute
Institute of Genetics and Physiology
Caspian University

10 лет помогаем публиковать статьи Международный издатель

Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026