title: Intercellular adhesion molecule 1 gene polymorphisms in Graves' disease.
abstract: It was recently suggested that genetic factors could play a major role in the development of Graves' disease (GD). The aim of the present study was to evaluate the frequency of the c.721G-->A polymorphism and the c.1405A-->G polymorphism of the intercellular adhesion molecule 1 (ICAM-1) gene in subjects with GD compared with that in healthy controls, because ICAM-1 was found to play a key role in lymphocyte infiltration into the thyroid gland and the concentration of the soluble form of ICAM-1 correlates significantly with the clinical activity and treatment status in GD. We have analyzed the association of ICAM-1 polymorphisms with the age at onset of GD and the presence of ophthalmopathy. In a group of 235 patients with GD and 211 healthy controls we have shown that polymorphism at position c.721G-->A is associated with an earlier age of GD onset and that the c.1405A-->G polymorphism of the ICAM-1 gene could predispose to Graves' ophthalmopathy. This suggests that G241R and K469E amino acid substitutions in the ICAM-1 molecule could influence the intensity/duration of the autoimmunity process and the infiltration of orbital tissues. It could be speculated that therapy that modulates ICAM-1 function may delay the onset and/or prolong the remission and/or have an influence on clinical manifestations of GD.
authors.affiliation: Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, Poland. akretows@amb.ac.bialystok.pl
authors.forename: Adam
authors.initials: A
authors.lastname: Kretowski
authors.forename: Natalia
authors.initials: N
authors.lastname: Wawrusiewicz
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Mironczuk
authors.forename: Janusz
authors.initials: J
authors.lastname: Mysliwiec
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Kretowska
authors.forename: Ida
authors.initials: I
authors.lastname: Kinalska
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000235:genetics*; D006801:Humans; D018799:Intercellular Adhesion Molecule-1 / Q000032:analysis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009801:Oculomotor Muscles / Q000737:chemistry; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index
chemical_list: D018799:Intercellular Adhesion Molecule-1