Putative susceptibility locus on chromosome 21q for lumbar disc disease (LDD) in the Finnish population.

Publication/Presentation Date

5-1-2007

Abstract

UNLABELLED: In the first linkage study on LDD, a common musculoskeletal disorder, a genome-wide scan was performed on 14 Finnish families. The analysis resulted in identification of a putative susceptibility locus for the disease on chromosome 21.

INTRODUCTION: Lumbar disc disease (LDD) is a common musculoskeletal disorder that affects approximately 5% of the adult population. Several predisposing genetic and environmental risk factors have been identified for symptomatic LDD (i.e., symptomatic disc herniation and/or sciatic pain), but thus far, no common cause has been identified.

MATERIALS AND METHODS: Medical history data were collected from 186 members of 14 Finnish families with LDD.

RESULTS: A genome-wide scan resulted in 10 chromosomal regions providing LOD scores >1, and in fine mapping, maximum two-point LOD scores of 2.71, 2.36, and 2.04 were obtained for chromosomes 21 (D21S1257), 4 (D4S399), and 6 (D6S294), respectively. A second fine mapping confirmed the susceptibility of chromosome 21 with a two-point LOD score of 2.06 (D21S1922). In addition, a significant association between LDD and SNP rs716195 was observed (p

CONCLUSIONS: We report here on the first putative susceptibility locus for LDD in the Finnish population. The candidate region on chromosome 21q spans >5.5 cM and contains several interesting genes for further analysis.

Volume

22

Issue

5

First Page

701

Last Page

707

ISSN

0884-0431

Disciplines

Medicine and Health Sciences

PubMedID

17266399

Department(s)

Department of Pathology and Laboratory Medicine

Document Type

Article

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