Multiple sclerosis complexity in selected populations: the challenge of Sardinia, insular Italy 1

@article{Sotgiu2002MultipleSC,
  title={Multiple sclerosis complexity in selected populations: the challenge of Sardinia, insular Italy 1},
  author={S. Sotgiu and M. Pugliatti and A. Sanna and A. Sotgiu and P. Castiglia and G. Solinas and A. Dolei and C. Serra and B. Bonetti and G. Rosati},
  journal={European Journal of Neurology},
  year={2002},
  volume={9}
}
Several lines of evidence indicate a genetic contribution to multiple sclerosis (MS) both in terms of predisposition to the disease and of immunological mechanisms which are known to play crucial roles in MS pathogenesis. The presence of high‐ and low‐risk areas for MS in neighbouring regions supports the theory that MS predisposition is influenced by a complex interaction of genetic and environmental factors. Therefore, the use of genetically homogeneous and geographically isolated populations… Expand
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References

SHOWING 1-10 OF 150 REFERENCES
Immunogenetic heterogeneity of multiple sclerosis in Sardinia
TLDR
Results confirm that, likely due to significant genetic differences at a microgeographic level, even in this homogeneous population MS is immunogenetically heterogeneous and tends to preferentially cluster in some more archaic areas of the island. Expand
Genetic epidemiology of multiple sclerosis: A survey
TLDR
It is unlikely that MS has a purely transmissible cause for these and other reasons, including the low concordance rate in dizygotic twins, low concords in conjugal pairs, negative birth order in multiplex MS sibships, and the identification of groups resistant to MS in otherwise high‐risk areas. Expand
Multiple sclerosis in Sardinia is associated and in linkage disequilibrium with HLA-DR3 and -DR4 alleles.
TLDR
Methodological approaches to the study of genes conferring susceptibility to MS include association studies, which measure the frequency of a specific allele in affected and healthy populations, and linkage studies,Which trace the inheritance of a gene from parents and correlate these genes to disease susceptibility. Expand
Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia
TLDR
The ancestral haplotype A30B18DR3 was associated to MS after allowing for a possible stratification in cases and controls and there was a tendency for ORs for the high‐risk haplotypes to be higher in the high malaria strata; however, this indication did not achieve statistical significance. Expand
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex
TLDR
A two-stage, multi-analytical genomic screen to identify genomic regions potentially harbouring MS susceptibility genes suggested that a multifactorial aetiology, including both environmental and multiple genetic factors of moderate effect, is more likely than a simple mendelian disease gene(s). Expand
HLA associations with multiple sclerosis in the Canary Islands
TLDR
It is confirmed that the primary DR15 association with multiple sclerosis in a previously unstudied population is with HLA-DR and not -DQ, highlighting the importance of DR4 in Mediterranean peoples. Expand
Multiple sclerosis and multiple sclerosis-associated retrovirus in Sardinia
TLDR
A striking correlation between MSRV positivity and MS disease is found, but the virus was found also only in controls (100% and 12% respectively; Fisher's exact test, p<0.00001). It is unclear whether MSRv exerts any pathogenic role in MS. Expand
Epidemiology of multiple sclerosis in Northwestern Sardinia: further evidence for higher frequency in Sardinians compared to other Italians.
TLDR
The present study confirms the higher frequency of MS among Sardinians compared to other Italian populations and suggests a role of environmental and genetic factors in determining the notable difference in MS risk between Sardinia and the rest of Italy. Expand
The prevalence of multiple sclerosis in the world: an update
TLDR
Prevalence data imply that racial and ethnic differences are important in influencing the worldwide distribution of MS and that its geography must be interpreted in terms of the probable discontinuous distribution of genetic susceptibility alleles, which can however be modified by environment. Expand
Epidemiologic evidence for multiple sclerosis as an infection.
  • J. Kurtzke
  • Medicine, Biology
  • Clinical Microbiology Reviews
  • 1993
TLDR
It is believed that clinical MS is the rare late outcome of a specific, but unknown, infectious disease of adolescence and young adulthood and that this infection could well be caused by a thus-far-unidentified (retro)virus. Expand
...
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3
4
5
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