Heterozygotes for SNP rs11362, located in the DEFB1 gene, are reported to be at increased risk for colonic Crohn's disease - but not the ileal or ileocolonic forms of the disease - based on a study of 190 Caucasians. The odds ratio is 2.393 (CI: 1.18-4.87, p=0.02).[PMID 17943629]
[PMID 19460328] SNP 668C (-44) alters a NF-kappaB1 putative binding site in non-coding strand of human beta-defensin 1 (DEFB1) and is associated with lepromatous leprosy
[PMID 20371866] The Antimicrobial Peptide DEFB1 is Associated with Caries
[PMID 20618470] Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco)
[PMID 16700921] Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association study.
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18991164] Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis.
[PMID 19712472] Association of a genetic polymorphism (-44 C/G SNP) in the human DEFB1 gene with expression and inducibility of multiple beta-defensins in gingival keratinocytes.
[PMID 22384213] Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia.
[PMID 22809755] Immune defense single nucleotide polymorphisms and recruitment strategies associated with contact lens keratitis
[PMID 23204181] Impaired beta-defensin expression in human skin links DEFB1 promoter polymorphisms with persistent Staphylococcus aureus nasal carriage.
[PMID 25083086] Relevance of α-defensins (HNP1-3) and defensin β-1 in diabetes
[PMID 25683590] Chronic tonsillitis is not associated with beta defensin 1 gene polymorphisms in Turkish population
[PMID 27846636] Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy.
[PMID 30702566] Relationship between β-defensin-1 gene polymorphism and susceptibility and prognosis of acute respiratory distress syndrome.