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Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection
Open accessAbstract
Celiac disease (CD) is an intolerance to dietary proteins of wheat, barley, and rye. CD may have substantial morbidity, yet it is quite common with a prevalence of 1%-2% in Western populations. It is not clear why the CD phenotype is so prevalent despite its negative effects on human health, especially because appropriate treatment in the form of a gluten-free diet has only been available since the 1950s, when dietary gluten was discovered to be the triggering factor. The high prevalence of CD might suggest that genes underlying this disease may have been favored by the process of natural selection. We assessed signatures of selection for ten confirmed CD-associated loci in several genome-wide data sets, comprising 8154 controls from four European populations and 195 individuals from a North African population, by studying haplotype lengths via the integrated haplotype score (iHS) method. Consistent signs of positive selection for CD-associated derived alleles were observed in three loci: IL12A, IL18RAP, and SH2B3. For the SH2B3 risk allele, we also show a difference in allele frequency distribution (Fst) between HapMap phase II populations. Functional investigation of the effect of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide revealed that carriers of the SH2B3 rs3184504*A risk allele showed stronger activation of the NOD2 recognition pathway. This suggests that SH2B3 plays a role in protection against bacteria infection, and it provides a possible explanation for the selective sweep on SH2B3, which occurred sometime between 1200 and 1700 years ago.
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“consistent with evidence that this variant is under active positive selection.38”
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Metadata
- Authors
- Zhernakova, A., Elbers, C. C., Ferwerda, B., Romanos, J., Trynka, G., Dubois, P. C., de Kovel, C. G. F., Franke, L., Oosting, M., Barisani, D., Bardella, M. T., Joosten, L. A. B., Saavalainen, P., van Heel, D. A., Catassi, C., Netea, M. G., & Wijmenga, C.
- Affiliations
- Leiden University Medical Center (NL)
- University Medical Center Utrecht (NL)
- Radboud University Nijmegen (NL)
- University Medical Center Groningen (NL)
- University of London (GB)
- University of Milano-Bicocca (IT)
- University of Milan (IT)
- Marche Polytechnic University (IT)
- Corresponding author
- Wijmenga, Cisca
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2010-06
- Volume
- 86
- Issue
- 6
- Pages
- 970-977
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3032060
- OpenAlex
- W2150291527
- Cited by
- 195
- References
- 38
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 12 · 2023: 11 · 2022: 10 · 2021: 17 · 2020: 11 · 2019: 5 · 2018: 8 · 2017: 15 · 2016: 9 · 2015: 19 · 2014: 17 · 2013: 15 · 2012: 13
- FWCI
- 17.14
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- BOA (University of Milano-Bicocca) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- Juvenile Diabetes Research Foundation International (U01 DK062418)
- Wellcome Trust (068545/Z/02), 085475, 084743, WT084743MA)
- Coeliac UK
- Koninklijke Nederlandse Akademie van Wetenschappen
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Medical Research Council
- National Human Genome Research Institute
- National Institute of Allergy and Infectious Diseases
- National Institute of Diabetes and Digestive and Kidney Diseases (DK062418, U01DK062418)
- National Institute of Child Health and Human Development
- Topics
- Health Sciences › Medicine › Gastroenterology › Celiac Disease Research and Management
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Wheat and Barley Genetics and Pathology
- Keywords
- celiac disease, SH2B3, positive selection, selective sweeps, integrated haplotype score, NOD2, IL12A, IL18RAP, bacterial infection resistance, lipopolysaccharide, muramyl dipeptide, allele frequency
- MeSH terms
- Africa, Northern, Bacterial Infections, Celiac Disease, Disease Susceptibility, Europe, Genetics, Population, Humans, Proteins, Selection, Genetic, Evolution, Molecular, Polymorphism, Single Nucleotide, Intracellular Signaling Peptides and Proteins, Adaptor Proteins, Signal Transducing, Nod2 Signaling Adaptor Protein
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