A genome screen for multiple sclerosis in Sardinian multiplex families

Coraddu, Francesca; Sawcer, Stephen; D’Alfonso, Sandra; Lai, Ml; Hensiek, Anke; Solla, E; Broadley, Simon; Mancosu, Cristina; Pugliatti, Maura; Marrosu, Maria Giovanna; Compston, Alastair

doi:10.1038/sj.ejhg.5200680

Cited by 92 publications

(42 citation statements)

References 20 publications

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“…27 This region has also shown suggestive and potential linkage respectively in recently published studies of sibpairs with multiple sclerosis from Sardinia 16 and Italy. 17 Another region of interest in this respect is 6q21 on the long arm of chromosome 6, where our results show a peak lod score of 1.2.…”

Section: Discussionmentioning

confidence: 78%

“…11 In multiple sclerosis, six whole genome screens for linkage have now been performed. [12][13][14][15][16][17] No one has shown unequivocal linkage, but most have identified more regions of potential linkage than expected by chance and together they provide the best available summary of the likely location of the relevant genes. 18 The high prevalence of multiple sclerosis (120/100 000) in Scandinavia 19 and the striking correlation between its global geographical distribution and the migration pattern of northern Europeans 20 suggest that important susceptibility alleles may have arisen in Scandinavia and been disseminated by their descendants-the so-called 'Viking hypothesis'.…”

Section: Introductionmentioning

confidence: 99%

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A genome-wide screen for linkage in Nordic sib-pairs with multiple sclerosis

et al. 2002

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Section: Discussionmentioning

confidence: 78%

Section: Introductionmentioning

confidence: 99%

A genome-wide screen for linkage in Nordic sib-pairs with multiple sclerosis

et al. 2002

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“…This region is ϳ30 cM away from, and does not overlap with, locus 15q22-24, which has been defined for familial recurrent arthritis in an extended kindred in which 9 members were diagnosed as having juvenile idiopathic arthritis (21). Chromosome region 1q31 has been implicated in linkage studies in lupus and multiple sclerosis (22)(23)(24). Multiple investigations have suggested linkage for chromosome region 1p36 in lupus (24)(25)(26), celiac disease (27), inflammatory bowel disease (28), and RA (29,30).…”

Section: Discussionmentioning

confidence: 99%

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Thompson¹,

Moroldo²,

Guyer³

et al. 2004

Arthritis & Rheumatism

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Methods. Genotype data collected for HLA-DR and 386 microsatellite markers were subjected to multipoint nonparametric linkage analysis. Following analysis of the entire set of families, additional analyses were performed after a priori stratification by disease onset type, age at onset, disease course, and selected HLA-DRB1 alleles. Conclusion. These data support the hypothesis that multiple genes, including at least 1 in the HLA region, influence susceptibility to JRA. These findings for JRA are consistent with findings for other autoimmune diseases and support the notion that common genetic regions contribute to an autoimmune phenotype.Collectively, the varied conditions that constitute juvenile rheumatoid arthritis (JRA) represent the most common chronic rheumatic inflammatory conditions of childhood. Current estimates indicate that as many as 50,000 children in the US have been diagnosed with some form of JRA (1). The diagnosis of JRA is complicated by the heterogeneous nature of the clinical phenotypes and has broadly been defined by the American College of Rheumatology (ACR) (2) based on systemic involvement (fevers, rash, and involvement of other organ systems besides the musculoskeletal system) and mode of disease onset (pauciarticular [Յ4 joints] versus polyarticular [Ն5 joints]).Evidence suggests that JRA is a complex genetic disorder that is influenced by multiple genetic and environmental factors. The sibling risk ratio for a full sibling of a child with JRA is estimated to be 15 (3). These results are consistent with other autoimmune disorders, such as type 1 diabetes (4).

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“…This region contains extensive clustering of markers associated in all populations, with the exception of the Southern and Eastern European populations of Hungary, Italy, Sardinia and Turkey, which did not show linkage or association in the region. 10,11,13,15 Associations seem to extend between markers D6S265 and TAP1. Each marker is associated in only a subgroup of populations indicating the presence of variations in LD patterns in the region.…”

Section: Drd3 Gap43 Lsamp Np25mentioning

confidence: 98%

“…1 Since then, whole genome linkage studies have been carried out in different populations including, American, 2,3 Australian, 4 British, 5,6 Canadian, 7,8 Finnish, 9 French, 2 Italian, 10 Sardinian, 11 Scandinavian 12 and Turkish. 13 These studies used low-density linkage mapping panels averaging 400 microsatellite markers at 10 Mb spacing.…”

Section: Introductionmentioning

confidence: 99%

Mapping candidate non-MHC susceptibility regions to multiple sclerosis

et al. 2006

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Understanding the genetic basis of multiple sclerosis (MS) remains a major challenge, despite decades of intensive research. In order to identify candidate non-MHC susceptibility regions to MS, the results of whole genome screens for linkage or association and follow-up studies in 18 different populations were superimposed together in a combined genomic map. Analysis of this map led to the prediction of at least 38 potential susceptibility regions, each showing linkage and/or association in several populations. Among these, 17 regions were the most reproducibly reported in these studies, thus representing top predicted candidates for MS. This non-formal approach to meta-analysis demonstrated the ability to verify results and retrieve lost information in an association study. Assessment of the map in a Northern Irish refined screen (n ¼ 415 cases, n ¼ 490 controls) revealed association in 15 regions (Po0.05), including 10 promising candidates on chromosomes 1p13, 2p13, 2q14, 3p23, 7q21, 13q14, 15q13, 17p13, 18q21 and 20p12 (Po0.0025). Seven of these regions were previously overlooked in the Northern Irish whole genome association study. Collating results from numerous studies, this draft map represents a tool that should facilitate the analysis of the genetic backgrounds of MS in many populations.

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A genome screen for multiple sclerosis in Sardinian multiplex families

Cited by 92 publications

References 20 publications

A genome-wide screen for linkage in Nordic sib-pairs with multiple sclerosis

A genome-wide screen for linkage in Nordic sib-pairs with multiple sclerosis

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Mapping candidate non-MHC susceptibility regions to multiple sclerosis

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