Gene "HSD17B3"
Found 1 record
Gene information
Gene symbol:
HSD17B3
See related:
Ensembl: ENSG00000130948, Gene ID: 3293
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    HSD17B3:c.865G>A(p.Gly289Ser)
    Gene:
    HSD17B3
    Genomic location:
    chr9:98997810
    dbSNP ID:
    rs2066479
    Target disease:
    Hypospadias(DOID_10892)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=3.06; 95% CI: 1.38-6.76 
    Effect:
    These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias.
    Reference:
    PMID20059664
    Title:
    Genetic polymorphisms of 17 β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias.
    Species studied:
    Human
    Abstract:
    Hypospadias is a common congenital anomaly caused by incomplete fusion of urethral folds. Development of the urethra and external genital system in the male fetus is an androgen-dependent process. In this regard, enzymes 17 β-hydroxysteroid dehydrogenase type 3 (17 β HSD3, encoded by HSD17B3) and steroid 5 α-reductase type 2 (encoded by SRD5A2) play crucial roles.