Biomedical subjects

Hanne Flinstad Harbo

Publications and source records attributed to Hanne Flinstad Harbo.

3 recordsLinked to original sources

PubMed2004

Concordance for disease course and age of onset in Scandinavian multiple sclerosis coaffected sib pairs.

BACKGROUND: Investigation of coaffected sib pairs is one method to determine the genetic influence on the clinical presentation of many complex diseases, such as multiple sclerosis (MS). Investigation of the clinical concordance in coaffected sib pairs may be a prerequisite to identify genes that modify the clinical outcome. The aim of this study was to investigate a possible genetic influence on selected demographic and clinical variables among familial Scandinavian MS cases. MATERIAL AND METHODS: We identified 136 Caucasian Scandinavian families with MS coaffected sib pairs from Denmark, Norway and Sweden. Cohen's kappa coefficient and the intraclass correlation coefficient were used to assess concordances in sib pairs. Furthermore, clinical features and HLA-DR2 carrier status were compared among the probands of sib pairs. RESULTS: We found significant concordance of the disease course (kappa = 0.28, P < 0.001) and adjusted age of onset (r = 0.23, P = 0.028). Among probands of sib pairs, HLA-DR2 carrier patients had a younger age of onset (P = 0.024). CONCLUSION: Analyses of Scandinavian coaffected sib pairs suggest that disease course and age of onset are partly under genetic control. Furthermore, HLA-DR2 in probands of sib pairs suggests importance for age of onset.

Age of Onset↗

PubMed2003

[Multiple sclerosis--a disease with complex genetics].

BACKGROUND: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, characterised by demyelinisation, gliosis and various degrees of axonal damage. The cause of the disease is unknown though there is evidence that MS is an immune mediated disease in which genetic, environmental and stochastic factors are involved. MATERIAL AND METHODS: Evidence of genetic influence in MS is reviewed. RESULTS: About 20% of patients have other family members with MS. First-degree relatives of MS patients have increased risk (2-5%) of developing MS compared to the risk in the general population (0.1%). The concordance rate in monozygotic twins (25-30%) is higher than in dizygotic twins (2-5%). Genetic analysis has shown association and linkage of MS to the HLA-DR2, DQ6 haplotype. Genome-wide screens have shown chromosome regions of potential importance. CONCLUSION: MS is a complex disease in which several genes are involved. Despite extensive candidate gene studies and genome-wide linkage screens, the HLA-DR2, DQ6 haplotype is the only genetic region that has shown unequivocal association and linkage to the disease. Further studies aimed at defining other MS susceptibility and disease-modifying genes are in progress.

Genes, MHC Class II↗

PubMed2003

Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis.

Genome-wide screens for linkage in multiplex families with multiple sclerosis (MS) from United Kingdom, Sardinia, Italy and the Nordic countries (Denmark, Finland, Norway and Sweden) have each shown suggestive or potential linkage on chromosome 10. The partially overlapping regions identified by these studies encompass around 60 cM of the chromosome. In order to explore this region further, we typed 13 microsatellite markers in the same 449 families originally studied in the individual screens. This additional genotyping increased the information extraction in the region from 52% to 79% and revealed increased support for linkage (MLS 2.5) peaking at 10p15.

Alleles↗