Pavelescu Luciana Alexandra, Sabau Ileana Delia, Sanda-Dira Gabriela, Iacata Alexandra Antonela, Curici Antoanela
Department of Cellular and Molecular Biology and Histology, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Medical Genetics Department, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Int J Mol Sci. 2025 Jun 28;26(13):6251. doi: 10.3390/ijms26136251.
A large cohort of Romanian children suspected of celiac disease (CD) received comprehensive evaluation through this study regarding serological, genetic, and biochemical markers. This study investigated the relationships between anti-tissue transglutaminase (anti-tTG), anti-endomysium antibodies (EMAs), anti-gliadin deamidated (DGP) antibodies, and HLA genotyping. A strong association was observed between high anti-tTG IgA titers (>100 U/mL) and EMA IgA positivity, with a 95% concordance rate. Furthermore, anti-tTG IgA positive correlated with a significant prevalence of DGP antibodies, suggesting the complementary diagnostic role of DGP antibodies in equivocal cases. Genetic testing for HLA-DQ2/DQ8 alleles validated their association with celiac disease susceptibility, with 50% of the studied patients exhibiting these markers. The research reveals that vitamin D insufficiency affects a large number of children with anti-tTG antibodies, thus requiring both screening and supplementation practices. Furthermore, associations with other autoimmune conditions were explored, including thyroid and diabetes-related autoantibodies. This research demonstrates why CD diagnosis and management require a complete approach that combines serological tests with genetic evaluation and prompt intervention for related health conditions.
一大群疑似患有乳糜泻（CD）的罗马尼亚儿童通过本研究接受了关于血清学、遗传学和生化标志物的全面评估。本研究调查了抗组织转谷氨酰胺酶（抗tTG）、抗肌内膜抗体（EMA）、抗麦醇溶蛋白脱酰胺（DGP）抗体与HLA基因分型之间的关系。观察到高抗tTG IgA滴度（>100 U/mL）与EMA IgA阳性之间存在强关联，一致性率为95%。此外，抗tTG IgA阳性与DGP抗体的显著流行相关，表明DGP抗体在可疑病例中的补充诊断作用。对HLA-DQ2/DQ8等位基因的基因检测证实了它们与乳糜泻易感性的关联，50%的研究患者表现出这些标志物。研究表明，维生素D不足影响大量有抗tTG抗体的儿童，因此需要进行筛查和补充。此外，还探讨了与其他自身免疫性疾病的关联，包括甲状腺和糖尿病相关的自身抗体。这项研究证明了为什么乳糜泻的诊断和管理需要一种完整的方法，即将血清学检测与基因评估以及对相关健康状况的及时干预相结合。
