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rs1800972

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome8
Position6877901
GeneDEFB1
is asnp
is mentioned by
dbSNPrs1800972
ebirs1800972
HLIrs1800972
Exacrs1800972
Varsomers1800972
Maprs1800972
PheGenIrs1800972
hapmaprs1800972
1000 genomesrs1800972
hgdprs1800972
ensemblrs1800972
gopubmedrs1800972
geneviewrs1800972
scholarrs1800972
googlers1800972
pharmgkbrs1800972
gwascentralrs1800972
openSNPrs1800972
23andMers1800972
23andMe allrs1800972
SNP Nexus

SNPshotrs1800972
SNPdbers1800972
MSV3drs1800972
GWAS Ctlgrs1800972
GMAF0.1538
Max Magnitude2
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

Neighborrs11362
Distance24
Neighborrs1799946
Distance8


[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 19712472OA-icon.png] 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 22384213OA-icon.png] Genetic Variability in Beta-Defensins Is Not Associated with Susceptibility to Staphylococcus aureus Bacteremia


[PMID 16700921OA-icon.png] Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association study.


[PMID 18396467OA-icon.png] 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 25083086OA-icon.png] 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.