Have questions? Visit https://www.reddit.com/r/SNPedia

DEFB4

From SNPedia

is agene
is mentioned by
EntrezGene1673
PheGenI1673
VariationViewer1673
ClinVarDEFB4
dbSNP1673
SADR1673
HugeNav1673
wikipediaDEFB4
googleDEFB4
gopubmedDEFB4
EVSDEFB4
HEFalMpDEFB4
MyGene2DEFB4
23andMeDEFB4
# SNPs0


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]