title: Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients.
abstract: Infiltration of immune cells into CNS is one of the essential events in multiple sclerosis (MS) development. Adhesion molecules like the intercellular adhesion molecule 1 (ICAM-1) play critical role in this process. Therefore, the ICAM1 gene containing two important single-nucleotide polymorphisms (SNPs) belongs to candidate loci with possible involvement in MS susceptibility and/or severity. The objective of our case-control study was to analyze the association of two functional ICAM1 polymorphisms rs1799969 (or G241R) and rs5498 (or K469E) with susceptibility to MS and evaluate their influence on the age at disease onset, severity, neurological disability and progression rate. Two hundred forty-eight MS subjects (mean 39.2 years) and 208 age-matched controls (mean 35.6 years) were involved in the study. Genotyping of ICAM1 rs1799969 and rs5498 SNPs was performed by PCR-RFLP. Presence of the rs3135388 polymorphism tagging the major MS risk allele HLA-DRB1*15:01 allele was determined as well. Our analysis revealed no statistically significant association of ICAM1 polymorphisms with risk of MS development in the Slovak population. Stratification of study cohorts by gender, age at onset and presence of the HLA-DRB1*15:01 risk allele showed only moderate changes. Correlation of clinical findings as age at onset, Kurtzke Expanded Disability Status Scale, Multiple Sclerosis Severity Score and progression index with ICAM1 genotypes in MS patients revealed no significant association; however, patients with earlier onset of MS showed slightly higher frequencies of the homozygous G allele at rs5498 in comparison to other genotypes (P = 0.04), suggesting that GG carriers tend to induce MS at an earlier age.
authors.affiliation: Institute of Immunology, Faculty of Medicine, Comenius University, Odborarske nam. 14, 813 72, Bratislava, Slovakia. ivana.shawkatova@fmed.uniba.sk.
authors.forename: Ivana
authors.identifier: http://orcid.org/0000-0002-7803-5815
authors.initials: I
authors.lastname: Shawkatová
authors.affiliation: Institute of Immunology, Faculty of Medicine, Comenius University, Odborarske nam. 14, 813 72, Bratislava, Slovakia.
authors.forename: Juraj
authors.initials: J
authors.lastname: Javor
authors.affiliation: Institute of Immunology, Faculty of Medicine, Comenius University, Odborarske nam. 14, 813 72, Bratislava, Slovakia.
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Párnická
authors.affiliation: Institute of Immunology, Faculty of Medicine, Comenius University, Odborarske nam. 14, 813 72, Bratislava, Slovakia.
authors.forename: Mária
authors.initials: M
authors.lastname: Bucová
authors.affiliation: 1st Department of Neurology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia.
authors.forename: Daniela
authors.initials: D
authors.lastname: Čopíková-Cudráková
authors.affiliation: Clinic of Neurology, Jessenius Faculty of Medicine in Martin and University Hospital, Comenius University, Martin, Slovakia.
authors.forename: Jozef
authors.initials: J
authors.lastname: Michalík
authors.affiliation: 2nd Department of Neurology, Faculty of Medicine, Comenius University and University Hospital, Bratislava, Slovakia.
authors.forename: Karin
authors.initials: K
authors.lastname: Gmitterová
authors.affiliation: Department of Clinical Biochemistry, Jessenius Faculty of Medicine in Martin and University Hospital, Comenius University, Martin, Slovakia.
authors.forename: Daniel
authors.initials: D
authors.lastname: Čierny
authors.affiliation: Institute of Immunology, Faculty of Medicine, Comenius University, Odborarske nam. 14, 813 72, Bratislava, Slovakia.
authors.forename: Milan
authors.initials: M
authors.lastname: Buc
authors.affiliation: Institute of Immunology, Faculty of Medicine, Comenius University, Odborarske nam. 14, 813 72, Bratislava, Slovakia.
authors.forename: Vladimíra
authors.initials: V
authors.lastname: Ďurmanová
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D059811:HLA-DRB1 Chains / Q000235:genetics; D006801:Humans; D018799:Intercellular Adhesion Molecule-1 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018154:Slovakia; D055815:Young Adult
chemical_list: D059811:HLA-DRB1 Chains; D018799:Intercellular Adhesion Molecule-1