Boniotto Michele, Braida Laura, Spanò Andrea, Pirulli Doroti, Baldas Valentina, Trevisiol Chiara, Not Tarcisio, Tommasini Alberto, Amoroso Antonio, Crovella Sergio
Genetic Section, Dipartimento di Scienze della Riproduzione e dello Sviluppo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.
Immunogenetics. 2002 Nov;54(8):596-8. doi: 10.1007/s00251-002-0504-2. Epub 2002 Oct 9.
In this study, we investigated the role of mannose-binding lectin (MBL) in celiac disease, by performing genotype analysis for the three point mutations in the first exon of the gene in 117 Italian celiac patients (characterized by flat biopsy and positive for anti-endomysium antibody and human transglutaminase antibodies) and 130 pan-ethnic healthy controls. The frequency of homozygous mutant 0/ 0 was significantly higher in the 117 Italian celiac patients (0.13) than in the 130 pan-ethnic healthy controls (0.05; P=0.0405). An increased frequency of homozygous 0/0 allele was found among patients with celiac disease compared with controls. These results suggest an involvement of MBL in the pathophysiology of celiac disease.
在本研究中，我们通过对117名意大利乳糜泻患者（经活检确诊且抗肌内膜抗体和人转谷氨酰胺酶抗体呈阳性）和130名泛种族健康对照者的该基因第一外显子中的三个点突变进行基因分型分析，研究了甘露糖结合凝集素（MBL）在乳糜泻中的作用。117名意大利乳糜泻患者中纯合突变0/0的频率（0.13）显著高于130名泛种族健康对照者（0.05；P=0.0405）。与对照相比，乳糜泻患者中纯合0/0等位基因的频率增加。这些结果提示MBL参与了乳糜泻的病理生理过程。
