Exon 11 Polymorphism (rs1126797) in the Thyroid Peroxidase (TPO) Gene Among Caucasian Polish Patients with Autoimmune Thyroiditis: A Short Communication

• Published in: International journal of molecular sciences Vol. 26; no. 13; p. 6299
• Main Authors: Lacka, Katarzyna, Maciejewski, Adam, Łącka, Aleksandra M., Herman, Waldemar, Lacki, Jan K., Żaba, Ryszard, Kowalczyk, Michał J.
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 30.06.2025
• Subjects: Adult; Alleles; Autoantigens - genetics; Autoimmune diseases; Case-Control Studies; Congenital diseases; Exons - genetics; Female; Gene Frequency; Genes; Genetic Predisposition to Disease; Genotype; Genotype & phenotype; Graves disease; Humans; Hypothyroidism; Iodide Peroxidase - genetics; Iron-Binding Proteins - genetics; Male; Middle Aged; Pathogenesis; Poland; Polymorphism, Single Nucleotide; Thyroid gland; Thyroiditis, Autoimmune - genetics; White people; White People - genetics; Poland; rs1126797; polymorphism; TPO gene; autoimmune thyroiditis
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms26136299

Autoimmune thyroiditis (AIT), or Hashimoto’s thyroiditis, is one of the most prevalent autoimmune endocrine disorders. Its pathogenesis is complex and involves both environmental and genetic factors, yet it remains incompletely understood. Among the genetic contributors, thyroid-specific genes, including thyroid peroxidase (TPO) and thyroglobulin (Tg), have been implicated. The aim of this study was to investigate the potential association between the TPO gene single nucleotide polymorphism rs1126797, located in exon 11, and the risk of developing AIT in a Caucasian Polish population. To date, this SNP has not been studied in European cohorts, prompting us to explore its role following prior assessments in other ethnic groups. A total of 234 patients diagnosed with AIT and 132 healthy control subjects were enrolled. Genotyping of rs1126797 was performed using the TaqMan SNP Genotyping Assay. Allele and genotype frequencies were compared between groups, and associations with clinical parameters, including thyroid volume, were analyzed. No statistically significant differences in allele or genotype frequencies of rs1126797 were observed between AIT patients and healthy controls. However, a weak, significant trend was noted, suggesting a possible association between rs1126797 genotypes and thyroid volume in patients with AIT. Our findings do not support a significant role of the TPO rs1126797 polymorphism in conferring susceptibility to autoimmune thyroiditis in the studied Caucasian Polish population. However, the observed trend in thyroid volume among AIT patients with different rs1126797 genotypes warrants further investigation. Future studies involving larger and ethnically diverse cohorts are needed to validate these findings.