Polish archives of internal medicine · 2026
CTLA4, PTNP22, and FOXO3A gene variants as genetic biomarkers for co-occurrence of type 1 diabetes and autoimmune thyroid diseases in the Polish population.
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Cichocka Edyta, Maj-Podsiadło Anna, Szweda-Gandor Nikola, Gumprecht Janusz
Аннотация
INTRODUCTION: Genetic predisposition is a common determinant of autoimmune endocrinopathies, particularly type 1 diabetes (T1D) and autoimmune thyroid disease (AITD). Although their coexistence is frequent, the underlying genetic background is not fully understood.
OBJECTIVES: We aimed to identify genetic polymorphisms predictive of an increased risk for co‑occurring T1D and AITD, and to assess their potential impact on glycemic control.
PATIENTS AND METHODS: We genotyped 5 selected polymorphisms (rs3087243 and rs231775 in the CTLA4 gene; rs12730735 in the PTPN22 gene; and rs2802292 and rs9400239 in the FOXO3A gene) in 277 patients with T1D. Clinical data on thyroid status, the presence of thyroid antibodies, treatment, and metabolic control were analyzed.
RESULTS: Thyroid disorders, mostly Hashimoto hypothyroidism, were diagnosed in 32.9% of the patients. As many as 75% required L‑thyroxine (mean thyroid‑stimulating hormone level, 2.15 IU/l). Among thyroid peroxidase- and thyroglobulin‑positive patients, 81.6% and 75%, respectively, had a prior diagnosis of a thyroid disorder. The GG genotype of rs3087243 (CTLA4) conferred a higher risk of hypothyroidism and other thyroid diseases. The GG variant of rs2802292 (FOXO3A) was associated with a reduced prevalence of thyroid disease in family history. Carriers of the AG genotypes in rs3087243 and rs231775 (CTLA4), as well as the GG genotype in rs2802292 (FOXO3A), showed a lower probability of achieving diabetes control, particularly with longer disease duration. However, the CT genotype of rs12730735 (PTPN22) increased the likelihood of achieving glycemic control.
CONCLUSIONS: CTLA4 polymorphisms were associated with an elevated risk of a thyroid disease and poorer glycemic control; FOXO3A showed a dual role, that is, protective against familial thyroid disease but unfavorable for glycemic regulation; and the PTPN22 variant improved glycemic control. Genetic profiling may improve risk assessment and management in patients with T1D.
OBJECTIVES: We aimed to identify genetic polymorphisms predictive of an increased risk for co‑occurring T1D and AITD, and to assess their potential impact on glycemic control.
PATIENTS AND METHODS: We genotyped 5 selected polymorphisms (rs3087243 and rs231775 in the CTLA4 gene; rs12730735 in the PTPN22 gene; and rs2802292 and rs9400239 in the FOXO3A gene) in 277 patients with T1D. Clinical data on thyroid status, the presence of thyroid antibodies, treatment, and metabolic control were analyzed.
RESULTS: Thyroid disorders, mostly Hashimoto hypothyroidism, were diagnosed in 32.9% of the patients. As many as 75% required L‑thyroxine (mean thyroid‑stimulating hormone level, 2.15 IU/l). Among thyroid peroxidase- and thyroglobulin‑positive patients, 81.6% and 75%, respectively, had a prior diagnosis of a thyroid disorder. The GG genotype of rs3087243 (CTLA4) conferred a higher risk of hypothyroidism and other thyroid diseases. The GG variant of rs2802292 (FOXO3A) was associated with a reduced prevalence of thyroid disease in family history. Carriers of the AG genotypes in rs3087243 and rs231775 (CTLA4), as well as the GG genotype in rs2802292 (FOXO3A), showed a lower probability of achieving diabetes control, particularly with longer disease duration. However, the CT genotype of rs12730735 (PTPN22) increased the likelihood of achieving glycemic control.
CONCLUSIONS: CTLA4 polymorphisms were associated with an elevated risk of a thyroid disease and poorer glycemic control; FOXO3A showed a dual role, that is, protective against familial thyroid disease but unfavorable for glycemic regulation; and the PTPN22 variant improved glycemic control. Genetic profiling may improve risk assessment and management in patients with T1D.