Lacka Katarzyna, Maciejewski Adam, Łącka Aleksandra M, Herman Waldemar, Lacki Jan K, Żaba Ryszard, Kowalczyk Michał J
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Department of Dermatology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Int J Mol Sci. 2025 Jun 30;26(13):6299. 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 () and thyroglobulin (), have been implicated. The aim of this study was to investigate the potential association between the 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 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.
自身免疫性甲状腺炎(AIT),即桥本甲状腺炎,是最常见的自身免疫性内分泌疾病之一。其发病机制复杂,涉及环境和遗传因素,但仍未完全明确。在遗传因素中,包括甲状腺过氧化物酶()和甲状腺球蛋白()在内的甲状腺特异性基因已被牵连。本研究的目的是调查位于第11外显子的基因单核苷酸多态性rs1126797与波兰白种人群发生AIT风险之间的潜在关联。迄今为止,该单核苷酸多态性尚未在欧洲队列中进行研究,促使我们在对其他种族群体进行先前评估后探索其作用。共纳入234例诊断为AIT的患者和132例健康对照者。使用TaqMan SNP基因分型检测法对rs1126797进行基因分型。比较两组之间的等位基因和基因型频率,并分析与包括甲状腺体积在内的临床参数的关联。在AIT患者和健康对照者之间未观察到rs1126797等位基因或基因型频率的统计学显著差异。然而,注意到一个微弱但显著的趋势,提示rs1126797基因型与AIT患者的甲状腺体积之间可能存在关联。我们的研究结果不支持rs1126797多态性在赋予所研究的波兰白种人群自身免疫性甲状腺炎易感性方面起重要作用。然而,在具有不同rs1126797基因型的AIT患者中观察到的甲状腺体积趋势值得进一步研究。需要涉及更大规模和种族多样化队列的未来研究来验证这些发现。