DEFB1, defensin beta 1, 1672

N. diseases: 177; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011334
Disease: Dental caries
Dental caries
0.070 GeneticVariation disease BEFREE Association between genetic polymorphisms in DEFB1 and microRNA202 with caries in two groups of Brazilian children. 29727722 2018
CUI: C0011334
Disease: Dental caries
Dental caries
0.070 AlteredExpression disease BEFREE Eleven articles found a consistent association between salivary protein polymorphisms and risk of dental caries, for proteins related to antimicrobial activity (beta defensin 1 and lysozyme-like protein), pH control (carbonic anhydrase VI), and bacterial colonization/adhesion (lactotransferrin, mucin, and proline-rich protein Db). 28591238 2017
CUI: C0011334
Disease: Dental caries
Dental caries
0.070 GeneticVariation disease BEFREE In this study we aimed (1) to investigate the relationship between salivary hBDs and caries and (2) to evaluate the association of genetic polymorphisms in DEFB1 and microRNA202 (miRNA202) with salivary levels of hBDs and caries experience. 28343232 2017
CUI: C0011334
Disease: Dental caries
Dental caries
0.070 GeneticVariation disease BEFREE Polymorphism of DEFB1 (G-20A) was positively associated, and TAS2R38 (A49P) negatively associated, with caries risk (χ(2) test, P = 0.000). 26377569 2016
CUI: C0011334
Disease: Dental caries
Dental caries
0.070 GeneticVariation disease BEFREE Our study replicated, on a larger number of individuals, previous findings showing the association between two 5'-UTR SNPs in the DEFB1 gene and DMFT, suggesting that these polymorphisms could be considered as potential markers for assessing the risk to develop caries. 27846636 2016
CUI: C0011334
Disease: Dental caries
Dental caries
0.070 GeneticVariation disease BEFREE Two single nucleotide polymorphisms in DEFB 1 were selected (rs11362 and rs1800972) based on being associated with higher caries experience in previous work. 23964634 2014
CUI: C0011334
Disease: Dental caries
Dental caries
0.070 GeneticVariation disease BEFREE We found a high-caries-experience haplotype (GCA), which increased DMFT scores two-fold, and a low- caries-experience haplotype (ACG), which decreased DMFT scores two-fold, in the DEFB1 promoter. 20371866 2010