Annotation Detail
Information
- Associated Genes
- OGG1
- Associated Variants
-
OGG1 c.948+273C>G
(
ENST00000302003.11,
ENST00000302008.12,
ENST00000302036.12,
ENST00000339511.9,
ENST00000344629.12,
ENST00000352937.6,
ENST00000383826.9,
ENST00000449570.6,
ENST00000707074.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- Huntington disease
- Source Database
- DisGeNET
- Description
- In the present study, performed on blood DNA from 91 HD subjects, we observed that bearers of the mutant Cys326 allele (Ser326Cys+Cys326Cys) tend to have an increased number of CAG repeats of the expanded HD allele (P=0.049); moreover bearers of at least one copy of the mutant Cys326 allele, mainly heterozygous subjects, showed a significant (P=0.041) earlier disease onset than Ser326Ser wild-type individuals, suggesting a possible role of the hOGG1 Ser326Cys polymorphism in HD phenotype.
- Pubmed
- 19857538
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.123181357594843
- Year of publication
- 2010
Drugs