||1.3x increased risk for periodontitis
|?|| (A;A) (A;G) (G;G) ||28|
rs1047031 is a SNP in the 3' untranslated region of the beta 1 defensin DEFB1 gene.
Using 1,337 cases and 2,887 ethnically matched controls,a study has found that rs1047031(A;A) homozygotes have an increased risk for periodontitis, with an odds ratio of 1.3 (CI: 1.11-1.57, p=0.002). The association was increased specifically for chronic periodontitis (odds ratio 2.2, CI:1.16-4.35, p=0.02), and aggressive periodontitis (odds ratio 1.3, CI:1.04-1.68, p=0.02).[PMID 19829306]
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 25020984] 8.4 Serum beta defensin concentration in the first trimester is related to genotype, and is higher in women who develop PPROM and deliver before 34 weeks
[PMID 27846636] Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy.