Background. Multiple sclerosis (MS) is consistently associated with particular HLA-DRB1-DQB1 haplotypes. However, existing evidence suggests that variation at these loci does not entirely explain association of the HLA region with the disease. The MOG locus is a prime positional and functional candidate for such additional predisposing effects but the analysis is complicated by the strong, albeit labyrinthine pattern of linkage disequilibrium in the region. Here we have assessed the association of MOG variation with MS in the Sardinian population to see if it represents an independent contributor to MS predisposition. Results. After re-sequencing the MOG gene in 21 healthy parents of MS patients we detected 134 variants, 33 of which were novel. A set of 40 informative SNPs was then selected and assessed for disease association together with 1 intragenic microsatellite in an initial data set of 239 MS families. This microsatellite and 11 SNPs were found to be positively associated with MS, using the transmission disequilibrium test, and were followed up in an additional 158 families (total families analysed = 397). While in these 397 families, 8 markers showed significant association with MS, through conditional tests we determined that these MOG variants were not associated with MS independently of the main DRB1-DQB1 disease associations. Conclusion. These results indicate that variation within the MOG gene is not an important independent determinant of MS-inherited risk in the Sardinian population.

Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population / Pugliatti, Maura; Rosati, Giulio; Cucca, Francesco; Murru, Raffaele; Costa, Gianna; Rolesu, Marcella; Schirru, Lucia; Solla, Elisabetta; Secci, Maria Antonietta; Whalen, Michael B.; Sotgiu, Stefano; Marrosu, Maria Giovanna; Melis, Maria Cristina; Cuccu, Stefania; Cocco, Eleonora. - In: BMC GENETICS. - ISSN 1471-2156. - 8:25(2007), pp. 1-10. [10.1186/1471-2156-8-25]

Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population

Pugliatti, Maura;Rosati, Giulio;Cucca, Francesco;Schirru, Lucia;Sotgiu, Stefano;Cocco, Eleonora
2007-01-01

Abstract

Background. Multiple sclerosis (MS) is consistently associated with particular HLA-DRB1-DQB1 haplotypes. However, existing evidence suggests that variation at these loci does not entirely explain association of the HLA region with the disease. The MOG locus is a prime positional and functional candidate for such additional predisposing effects but the analysis is complicated by the strong, albeit labyrinthine pattern of linkage disequilibrium in the region. Here we have assessed the association of MOG variation with MS in the Sardinian population to see if it represents an independent contributor to MS predisposition. Results. After re-sequencing the MOG gene in 21 healthy parents of MS patients we detected 134 variants, 33 of which were novel. A set of 40 informative SNPs was then selected and assessed for disease association together with 1 intragenic microsatellite in an initial data set of 239 MS families. This microsatellite and 11 SNPs were found to be positively associated with MS, using the transmission disequilibrium test, and were followed up in an additional 158 families (total families analysed = 397). While in these 397 families, 8 markers showed significant association with MS, through conditional tests we determined that these MOG variants were not associated with MS independently of the main DRB1-DQB1 disease associations. Conclusion. These results indicate that variation within the MOG gene is not an important independent determinant of MS-inherited risk in the Sardinian population.
2007
Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population / Pugliatti, Maura; Rosati, Giulio; Cucca, Francesco; Murru, Raffaele; Costa, Gianna; Rolesu, Marcella; Schirru, Lucia; Solla, Elisabetta; Secci, Maria Antonietta; Whalen, Michael B.; Sotgiu, Stefano; Marrosu, Maria Giovanna; Melis, Maria Cristina; Cuccu, Stefania; Cocco, Eleonora. - In: BMC GENETICS. - ISSN 1471-2156. - 8:25(2007), pp. 1-10. [10.1186/1471-2156-8-25]
File in questo prodotto:
File Dimensione Formato  
Marrosu_M_Articolo_2007_Variation.pdf

accesso aperto

Tipologia: Versione editoriale (versione finale pubblicata)
Licenza: Creative commons
Dimensione 420.14 kB
Formato Adobe PDF
420.14 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/262576
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 6
social impact