{{Rsnum
|rsid=1800972
|Gene=DEFB1
|Chromosome=8
|position=6877901
|Orientation=minus
|GMAF=0.1538
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=DEFB1
}}[[rs1800972]](G;G) homozygotes appeared be at less risk (by a factor of 3.3, p=0.01) for [[Crohn's disease]], based on a study of 190 Caucasians.{{PMID|17943629}}

{{PMID|19390326}} Based on a study of ~300 HIV-infected mothers, to whom were born ~100 HIV-infected children and ~200 uninfected, [[rs1800972]] was associated with a modified risk for HIV transmission from mother to child. In children, the [[rs1800972]](G;G) genotype and the [[rs1800972]](G)/[[rs1799946]](G) haplotype had a protective role against HIV-1 infection [odds ratio 0.52, CI: 0.31 - 0.86, p = 0.03 and OR = 0.50, CI: 0.31 - 0.83, p = 0.014, respectively]. In mothers, the [[rs1800972]](G;G) genotype and the [[rs1800972]](G)/[[rs1799946]](G) were associated with low levels of HIV-1 plasma viremia (<1000 copies/mL) and a lower risk of maternal HIV-1 transmission (odds ratio 0.14, CI: 0.03 - 0.67, p = 0.009 and OR = 0.23, CI: 0.08 - 0.66, p = 0.012, respectively).

{{PMID|18938660}} C-44G [[rs1800972]](G;G) Protective [[Crohn's disease]]

{{ neighbor
| rsid = 11362
| distance = 24
}}

{{ neighbor
| rsid = 1799946
| distance = 8
}}

{{PMID Auto
|PMID=19460328
|Title=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 Auto
|PMID=19712472
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=20618470
|Title=Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco)
}}

{{PMID Auto
|PMID=22384213
|Title=Genetic Variability in Beta-Defensins Is Not Associated with Susceptibility to Staphylococcus aureus Bacteremia
|OA=1
}}

{{PMID Auto
|PMID=16700921
|Title=Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association study.
|OA=1
}}

{{PMID Auto
|PMID=18396467
|Title=Genetic variation and haplotype structures of innate immunity genes in eastern India.
|OA=1
}}

{{PMID Auto
|PMID=18991164
|Title=Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis.
}}

{{PMID Auto
|PMID=22809755
|Title=Immune defense single nucleotide polymorphisms and recruitment strategies associated with contact lens keratitis
}}

{{PMID Auto
|PMID=23204181
|Title=Impaired beta-defensin expression in human skin links DEFB1 promoter polymorphisms with persistent Staphylococcus aureus nasal carriage.
}}

{{PMID Auto
|PMID=25083086
|Title=Relevance of α-defensins (HNP1-3) and defensin β-1 in diabetes
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}