Open Access Highly Accessed Research article

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

Rachele Cagliani1, Stefania Riva1, Uberto Pozzoli1, Matteo Fumagalli12, Giacomo P Comi3, Nereo Bresolin13, Mario Clerici45 and Manuela Sironi1*

Author Affiliations

1 Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini (LC), Italy

2 Bioengineering Department, Politecnico di Milano, 20133 Milan, Italy

3 Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, 20100 Milan, Italy

4 Chair of Immunology, Department of Biomedical Sciences and Technologies LITA Segrate, University of Milano, 20090 Milano, Italy

5 Fondazione Don C. Gnocchi, IRCCS, 20148 Milano, Italy

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BMC Evolutionary Biology 2011, 11:171  doi:10.1186/1471-2148-11-171

Published: 17 June 2011

Additional files

Additional file 1:

Schematic representation of the gene regions we resequenced in ZSCAN23, HLA-DMB, VARS2, C6orf47, BAT3, PTPN22 and IL10.

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Additional file 2:

Nucleotide diversity indexes and summary statistics calculated from the low-coverage 1000 Genomes data.

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Additional file 3:

LD map of the genomic regions we resequenced in TAP2 region (chr6:32901567-32905985), TRIM40/TRIM10 region (chr6:30221583-30230714), CDSN/PSORS1C1 region (chr6:31188857-31193360).

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Additional File 4:

Nucleotide diversity estimates and summary statistics for the sub-regions included and excluded from GENETREE analysis.

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Additional file 5:

Table with details on GENETREE analyses.

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