Annotation Detail
Information
- Associated Genes
- MBL2
- Associated Variants
-
MBL2 p.Gly57Glu (p.G57E)
(
ENST00000675947.1,
ENST00000674931.1,
ENST00000373968.3 )
MBL2 p.Gly57Glu (p.G57E) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 ) - Associated Disease
- HIV Infections
- Source Database
- DisGeNET
- Description
- We found that (i) the prevalence of the common variant MBL alleles is correlated with the incidence of tuberculosis in sub-Saharan Africa (r=0.565), (ii) the mutant MBL G57E allele, in either the homozygous or compound heterozygous state, is associated with susceptibility to HIV-1 infection in the Gabonese population (P=0.019).Our data plus those in the literature suggest that individuals who are homozygous for the mutant MBL alleles display increased susceptibility to infections.
- Pubmed
- 12847552
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.171540413175097
- Year of publication
- 2003
Drugs