Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis

Sergey Nejentsev, Mikko Laaksonen, Pentti J Tienari, Oscar Fernandez, Heather Cordell, Juhani Ruutiainen, Juhani Wikström, Tomi Pastinen, Satu Kuokkanen, Jan Hillert, Jorma Ilonen

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Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenesis of multiple sclerosis (MS), whereas sequence variations in the ICAM-1 gene could potentially be responsible for the genetic susceptibility to MS. We studied an association of MS with the 13,848A>G (K469E) polymorphism of the ICAM-1 gene in Finnish and Spanish cases and controls and affected families. An increased risk for the AA (Lys(469)/Lys(469)) genotype was found in both populations. The effect observed was found to be strongest among the HLA-DQB1*0602-positive subjects, which implies genetic heterogeneity of MS. Meta-analysis of all published datasets supports increased risk of MS for the ICAM-1 Lys(469) homozygotes (relative risk = 1.3, p = 0.002).

Original languageEnglish
Pages (from-to)345-9
Number of pages5
JournalHuman Immunology
Issue number3
Publication statusPublished - Mar 2003
Externally publishedYes

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