Balancing Selection in the MHC Region and Autoimmune Disease Risk Alleles
Author Information
Author(s): Cagliani Rachele, Riva Stefania, Pozzoli Uberto, Fumagalli Matteo, Comi Giacomo P, Bresolin Nereo, Clerici Mario, Sironi Manuela
Primary Institution: Scientific Institute IRCCS E. Medea
Hypothesis
Balancing selection has shaped the frequency of opposite risk alleles for autoimmune diseases.
Conclusion
Balancing selection is common within the extended MHC region, but most SNPs with opposite effects on autoimmune diseases are likely neutrally evolving.
Supporting Evidence
- Balancing selection signatures were found in several non-HLA loci.
- Most SNPs with opposite risk profiles were consistent with evolutionary neutrality.
- High nucleotide diversity was observed in specific gene regions.
Takeaway
Some genes related to autoimmune diseases have variations that can either increase or decrease risk, and these variations are often maintained in the population by balancing selection.
Methodology
The study involved resequencing specific genomic regions in 20 individuals of European ancestry and analyzing nucleotide diversity and neutrality tests.
Limitations
The study primarily focused on a limited number of SNPs and may not capture all relevant genetic variations.
Participant Demographics
20 individuals of European ancestry (CEU).
Statistical Information
P-Value
1.1 × 10-3
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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