The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population

Borzani, I., Tola, M.R., Caniatti, L., Collins, A., De Santis, G., Luiselli, D., Mamolini, E. and Scapoli, C. (2010) The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population. European Journal of Neurology, 17 (7), 930-938. (doi:10.1111/j.1468-1331.2010.02952.x). (PMID:20192980)

Abstract

Background:? polymorphisms of the interleukin-1 (IL-1) gene family have been proposed as potential variants for different diseases including multiple sclerosis (MS). With respect to MS, IL-1 beta (?511 C/T; rs16944), IL-1 beta (+3954 C/T; rs1143634), IL-1 alpha (?889 C/T; rs1800587), IL-1 alpha (+4845 G/T; rs17561), and the variable number of tandem repeats in intron 2 of the IL-1 receptor antagonist (IL-1RN) gene polymorphisms have been studied in different ethnic groups, leading to conflicting results.

Methods:? this study investigates the association between IL-1 genes and MS by means of 70 markers spanning the 1.1 Mb region where the IL-1 genes map and exploring both the linkage disequilibrium (LD) and the haplotype structure in a case–control design including 410 subjects (160 patients and 250 controls).

Results:? from allelic/genotypic tests, significant association was found for several polymorphisms including the IL-1 beta (?511 C/T) variant (P-adjusted = 4.5 × 10?4) and some polymorphisms around the IL-1RN gene. The ‘block-step’ pattern obtained from both the LD map and pairwise analysis identifies four LD regions. Region 1 showed a significant association with MS for the global test (P < 0.0001) and haplotypes containing the IL-1 beta (?511 C/T) variant still demonstrate highly significant association with disease (P-value range: 9.9 × 10?5 to 0.02).

Conclusions:? our findings support the existence of a causative variant for MS within this candidate region in a representative Italian Caucasian population and, in particular, the role of the IL-1 beta (?511 C/T) variant warrants further investigation

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Contributors

Author: A. Collins

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