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

The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population
The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population
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
genetic susceptibility, IL-1 cluster genes, inferred haplotypes, linkage disequilibrium analysis, multiple sclerosis
1351-5101
930-938
Borzani, I.
b02c01e7-3049-45b7-b147-ccd27783270a
Tola, M.R.
65efa77d-60a7-442a-9642-f3d7d0c9eb6e
Caniatti, L.
53ff6770-edb9-4e08-9a2d-76439aecd221
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
De Santis, G.
794a1146-0bb5-4d7b-9787-dd1047189bbd
Luiselli, D.
b961547b-90f6-448e-a680-30741665281f
Mamolini, E.
4ad64710-6fc4-499b-9ef0-99e9546f4b99
Scapoli, C.
16bcb57e-4572-40d6-ba15-7360507b0ab5
Borzani, I.
b02c01e7-3049-45b7-b147-ccd27783270a
Tola, M.R.
65efa77d-60a7-442a-9642-f3d7d0c9eb6e
Caniatti, L.
53ff6770-edb9-4e08-9a2d-76439aecd221
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
De Santis, G.
794a1146-0bb5-4d7b-9787-dd1047189bbd
Luiselli, D.
b961547b-90f6-448e-a680-30741665281f
Mamolini, E.
4ad64710-6fc4-499b-9ef0-99e9546f4b99
Scapoli, C.
16bcb57e-4572-40d6-ba15-7360507b0ab5

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)

Record type: Article

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

Full text not available from this repository.

More information

Published date: July 2010
Keywords: genetic susceptibility, IL-1 cluster genes, inferred haplotypes, linkage disequilibrium analysis, multiple sclerosis

Identifiers

Local EPrints ID: 166693
URI: http://eprints.soton.ac.uk/id/eprint/166693
ISSN: 1351-5101
PURE UUID: 87f58162-10b2-4f33-aa5a-17c65e2c5256
ORCID for A. Collins: ORCID iD orcid.org/0000-0001-7108-0771

Catalogue record

Date deposited: 02 Nov 2010 08:27
Last modified: 20 Jul 2019 01:23

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Contributors

Author: I. Borzani
Author: M.R. Tola
Author: L. Caniatti
Author: A. Collins ORCID iD
Author: G. De Santis
Author: D. Luiselli
Author: E. Mamolini
Author: C. Scapoli

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