ArticleBMC evolutionary biology2011
Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving.
Article in BMC evolutionary biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- Uncovering Footprints of Natural Selection Through Spectral Analysis of Genomic Summary Statistics.Molecular biology and evolution · 2023Article
- Emerging Roles of MHC Class I Region-Encoded E3 Ubiquitin Ligases in Innate Immunity.Frontiers in immunology · 2021Review
- Diversity of HLA Class I and Class II blocks and conserved extended haplotypes in Lacandon Mayans.Scientific reports · 2020Article
- Long Noncoding RNAs in Host-Pathogen Interactions.Trends in immunology · 2019Review
- Population Genetics and Natural Selection in Rheumatic Disease.Rheumatic diseases clinics of North America · 2017Review
- Natural Selection in the Great Apes.Molecular biology and evolution · 2016Article
- An Ancient Fecundability-Associated Polymorphism Switches a Repressor into an Enhancer of Endometrial TAP2 Expression.American journal of human genetics · 2016Article
- Ancient pathogen-driven adaptation triggers increased susceptibility to non-celiac wheat sensitivity in present-day European populations.Genes & nutrition · 2016Article
- Genetics of autoimmune diseases: insights from population genetics.Journal of human genetics · 2015Review
- Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors.Genome biology and evolution · 2014Article
- An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection.PLoS genetics · 2014Article
- Candidate gene approach for parasite resistance in sheep--variation in immune pathway genes and association with fecal egg count.PloS one · 2014Article
- Genes associated with SLE are targets of recent positive selection.Autoimmune diseases · 2014Review
- Signatures of natural selection on genetic variants affecting complex human traits.Applied & translational genomics · 2013Article
- Dissecting structural and nucleotide genome-wide variation in inbred Iberian pigs.BMC genomics · 2013Article
- Article
- Possible KIR-driven genetic pressure on the genesis and maintenance of specific HLA-A,B haplotypes as functional genetic blocks.Genes and immunity · 2012Article
- Cytokine gene polymorphisms and human autoimmune disease in the era of genome-wide association studies.Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research · 2012Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeveral susceptibility genetic variants for autoimmune diseases have been identified. A subset of these polymorphisms displays an opposite risk profile in different autoimmune conditions. This observation open interesting questions on the evolutionary forces shaping the frequency of these alleles in human populations.We aimed at testing the hypothesis whereby balancing selection has shaped the frequency of opposite risk alleles.
resultsSince balancing selection signatures are expected to extend over short genomic portions, we focused our analyses on 11 regions carrying putative functional polymorphisms that may represent the disease variants (and the selection targets). No exceptional nucleotide diversity was observed for ZSCAN23, HLA-DMB, VARS2, PTPN22, BAT3, C6orf47, and IL10; summary statistics were consistent with evolutionary neutrality for these gene regions. Conversely, CDSN/PSORS1C1, TRIM10/TRIM40, BTNL2, and TAP2 showed extremely high nucleotide diversity and most tests rejected neutrality, suggesting the action of balancing selection. For TAP2 and BTNL2 these signatures are not secondary to linkage disequilibrium with HLA class II genes. Nonetheless, with the exception of variants in TRIM40 and CDSN, our data suggest that opposite risk SNPs are not selection targets but rather have accumulated as neutral variants.
conclusionData herein indicate that balancing selection is common within the extended MHC region and involves several non-HLA loci. Yet, the evolutionary history of most SNPs with an opposite effect for autoimmune diseases is consistent with evolutionary neutrality. We suggest that variants with an opposite effect on autoimmune diseases should not be considered a distinct class of disease alleles from the evolutionary perspective and, in a few cases, the opposite effect on distinct diseases may derive from complex haplotype structures in regions with high genetic diversity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.