Annotation Detail
Information
- Associated Genes
- MMP1
- Associated Variants
-
MMP1 MUTATION
MMP1 MUTATION
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
SOAT2 p.Thr254Ile (p.T254I) ( ENST00000301466.8 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
ROCK2 p.Thr431Ser (p.T431S) ( ENST00000315872.11, ENST00000401753.5, ENST00000697752.1 )
ROCK2 p.Thr431Asn (p.T431N) ( ENST00000315872.11, ENST00000401753.5, ENST00000697752.1 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
SOAT2 p.Thr254Ile (p.T254I) ( ENST00000301466.8 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
ROCK2 p.Thr431Ser (p.T431S) ( ENST00000315872.11, ENST00000401753.5, ENST00000697752.1 )
ROCK2 p.Thr431Asn (p.T431N) ( ENST00000315872.11, ENST00000401753.5, ENST00000697752.1 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 ) - Associated Disease
- Chronic Kidney Diseases
- Source Database
- DisGeNET
- Description
- The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and a stepwise forward selection procedure revealed that seven different polymorphisms were significantly (P<0.005) associated with the prevalence of CKD in individuals with low or high serum concentrations of TG or HDL- or LDL-cholesterol: the Aright curved arrow G (Glu23Lys) polymorphism of KCNJ11 and the 125592Cright curved arrow A (Thr431Asn) polymorphism of ROCK2 in individuals with low serum TG; the 734Cright curved arrow T (Thr254Ile) polymorphism of ACAT2 and the Cright curved arrow G (Gln27Glu) polymorphism of ADRB2 in individuals with high serum TG; the -1607/1Gright curved arrow 2G polymorphism of MMP1 in individuals with low serum HDL-cholesterol; the Gright curved arrow A (Val158Met) polymorphism of COMT in individuals with low serum LDL-cholesterol; the 584Gright curved arrow A (Gln192Arg) polymorphism of PON1 in individuals with high serum LDL-cholesterol.
- Pubmed
- 19578796
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2009
Drugs