Crohn's Disease Risk Alleles on the NOD2 Locus Have Been Maintained by Natural Selection on Standing Variation
Nakagome S, Mano S, Kozlowski L, Bujnicki JM, Shibata H, Fukumaki Y, Kidd JR, Kidd KK, Kawamura S, Oota H. Crohn's Disease Risk Alleles on the NOD2 Locus Have Been Maintained by Natural Selection on Standing Variation. Molecular Biology And Evolution 2012, 29: 1569-1585. PMID: 22319155, PMCID: PMC3697811, DOI: 10.1093/molbev/mss006.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionCrohn DiseaseGene FrequencyGenetic Predisposition to DiseaseGenotyping TechniquesHaplotypesHumansModels, GeneticModels, MolecularNod2 Signaling Adaptor ProteinPhylogenyPolymorphism, Single NucleotideProtein Structure, SecondaryProtein Structure, TertiaryRisk FactorsSelection, GeneticSequence Analysis, DNAConceptsDisease risk allelesNatural selectionCD risk allelesGenome-wide association studiesClassical linkage analysisMost recent common ancestorPhylogenetic network analysisRecent common ancestorNOD2 proteinProtein structural predictionRecent genome-wide association studiesHigh-frequency haplotypesSerious conformational changesEuropean populationsAmino acid substitutionsRisk allelesStanding variationDeleterious haplotypesEvolutionary studiesCoalescent simulationsCommon ancestorGenomic regionsNon-European populationsEntire genomeDiploid individuals