The University of Southampton
University of Southampton Institutional Repository

Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis

Scapoli, C., Trombelli, L., Mamolini, E. and Collins, A. (2005) Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis Genes and Immunity, 6, (1), pp. 44-52. (doi:10.1038/sj.gene.6364152).

Record type: Article

Abstract

Several studies have shown a role for the involvement of interleukin (IL)-1 gene cluster polymorphisms in the risk of periodontal diseases. In the present study, we tested polymorphisms, derived from genes of the IL-1 cluster, for association with generalized aggressive periodontitis (GAP) through both allelic association and by constructing a linkage disequilibrium (LD) map of the 2q13?14 disease candidate region. The IL-1RN (VNTR) genotype distribution observed was significantly different in GAP and control subjects (P=0.019). We also observed some evidence for an association between GAP and the IL-1B+3953 polymorphism (P=0.039). The pattern of association in the region, represented as an LD map, identifies a recombination hot area between the IL-1B+3953 and IL-1B-511 polymorphisms. Multilocus modelling of association with disease gives a location for the peak association at the IL-1B+3953 marker, although support for the peak is not significant. Haplotype analysis identifies a IL-1B+3953?IL-1B-511 haplotype as having the lowest P-value in the region. Recognition of the presence of a recombination hot area between the IL-1B+3953 and IL-1B-511 polymorphisms will have an important bearing on future efforts to develop higher resolution SNP analysis in this region for both this and other diseases for which this cluster is implicated.

Full text not available from this repository.

More information

Published date: February 2005
Keywords: linkage disequilibrium map, gene mapping, statistical models, case?control design, IL-1 cluster polymorphisms, generalized aggressive periodontitis

Identifiers

Local EPrints ID: 24939
URI: http://eprints.soton.ac.uk/id/eprint/24939
ISSN: 1466-4879
PURE UUID: 5c5fa7b6-0adc-469c-90dd-e9e09e37ed2d
ORCID for A. Collins: ORCID iD orcid.org/0000-0001-7108-0771

Catalogue record

Date deposited: 04 Apr 2006
Last modified: 17 Jul 2017 16:12

Export record

Altmetrics

Contributors

Author: C. Scapoli
Author: L. Trombelli
Author: E. Mamolini
Author: A. Collins ORCID iD

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×