rs1800972
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.5 | normal risk |
| (C;G) | 0.2 | normal risk |
| (G;G) | 2 | reduced risk for Crohn's disease; reduced risk for maternal HIV transmission |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 6877901 |
| Gene | DEFB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800972 |
| dbSNP (classic) | rs1800972 |
| ClinGen | rs1800972 |
| ebi | rs1800972 |
| HLI | rs1800972 |
| Exac | rs1800972 |
| Gnomad | rs1800972 |
| Varsome | rs1800972 |
| LitVar | rs1800972 |
| Map | rs1800972 |
| PheGenI | rs1800972 |
| Biobank | rs1800972 |
| 1000 genomes | rs1800972 |
| hgdp | rs1800972 |
| ensembl | rs1800972 |
| geneview | rs1800972 |
| scholar | rs1800972 |
| rs1800972 | |
| pharmgkb | rs1800972 |
| gwascentral | rs1800972 |
| openSNP | rs1800972 |
| 23andMe | rs1800972 |
| SNPshot | rs1800972 |
| SNPdbe | rs1800972 |
| MSV3d | rs1800972 |
| GWAS Ctlg | rs1800972 |
| GMAF | 0.1538 |
| Max Magnitude | 2 |
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
[PMID 19460328] 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 19712472
] 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
[PMID 20618470] Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco)
[PMID 22384213] Genetic Variability in Beta-Defensins Is Not Associated with Susceptibility to Staphylococcus aureus Bacteremia
[PMID 16700921] Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association study.
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18991164] Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis.
[PMID 22809755] Immune defense single nucleotide polymorphisms and recruitment strategies associated with contact lens keratitis
[PMID 23204181] Impaired beta-defensin expression in human skin links DEFB1 promoter polymorphisms with persistent Staphylococcus aureus nasal carriage.
[PMID 25083086] Relevance of α-defensins (HNP1-3) and defensin β-1 in diabetes
[PMID 25683590] Chronic tonsillitis is not associated with beta defensin 1 gene polymorphisms in Turkish population
[PMID 25398456] IL1B and DEFB1 Polymorphisms Increase Susceptibility to Invasive Mold Infection After Solid-Organ Transplantation
[PMID 27846636] Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy.
[PMID 30702566] Relationship between β-defensin-1 gene polymorphism and susceptibility and prognosis of acute respiratory distress syndrome.
[PMID 33231892] Beta-defensin 1 gene polymorphisms in the pathologies of the oral cavity- data from meta-analysis: association only with rs1047031 not with rs1800972, rs1799946 and rs11362.
