DEFB4
From SNPedia
| is a | gene |
| is | mentioned by |
| EntrezGene | 1673 |
| PheGenI | 1673 |
| VariationViewer | 1673 |
| ClinVar | DEFB4 |
| GeneCards | DEFB4 |
| dbSNP | 1673 |
| Diseases | DEFB4 |
| SADR | 1673 |
| HugeNav | 1673 |
| wikipedia | DEFB4 |
| DEFB4 | |
| gopubmed | DEFB4 |
| EVS | DEFB4 |
| HEFalMp | DEFB4 |
| MyGene2 | DEFB4 |
| 23andMe | DEFB4 |
| # SNPs | 0 |
The DEFB4 gene encodes one of the beta-defensin genes located in a cluster within the chromosome 8p23.1 region. Genes in this cluster encode proteins with a variety of antimicrobial functions.
Copy number variation (CNV) of medical significance has been reported for the beta-defensin cluster of genes. It appears as if:
- Most (healthy) individuals have a total of 4 copies of the beta-defensin cluster [PMID 16909382]
- Individuals with 3 or less copies of these genes are at 3x higher risk of developing Crohn's disease [PMID 16909382]; the good news is that individuals with 2 copies are also at 0.3x lowered risk for psoriasis [PMID 18059266]
- Individuals with 5 or more copies of these genes are at higher risk for psoriasis; the estimate for increased risk can be calculated as 0.34x more (starting with 1.00 for 4 copies) per extra copy.[PMID 18059266]
