| |
| |
Gene Symbol |
LOC110408762 |
| |
Aliases |
- |
| |
Entrez Gene ID |
|
| |
Gene Name |
CYP17A1 promoter |
| |
Chromosomal Location |
- |
| |
HGNC ID |
|
| |
Summary |
This region represents the promoter of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene. This promoter is induced by cyclic AMP and is regulated by binding of nuclear factor I, nuclear receptor subfamily 5 group A family members (e.g. Sf1/Lrh1), Sp1/3 transcription factors, and GATA binding proteins to defined recognition sites in this sequence. Signaling through transforming growth factor beta inhibits promoter activity. A polymorphism in the proximal promoter region (rs140012815) has been implicated by some studies in the risk of several reproductive hormone-related conditions, including polycystic ovarian syndrome and prostate cancer; however, these genetic associations were not confirmed in other studies or metastudies. [provided by RefSeq, Jun 2017]
|
|
SNPs
| SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
| |
|
|
|
T-> C substitution at 234bp from the initiation site of translation of gene CYP17 |
10065777 | |
|
|
|
|
Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
|
|
|
References |
| |
|
| |
| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
|
CYP17 |
PCOS, hyperandrogenemia |
T-> C substitution at 234bp from the initiation site of translation of gene CYP17 (polymorphic A2 allele of gene CYP17) |
|
Direct
|
Fifty patients with PCOS and 50 healthy women |
Although this base pair substitution is not the primary genetic defect in PCOS, it may aggravate the clinical picture of hyperandrogenemia, particularly when homozygosity exists. |
|
CYP11A1, CYP17 |
PCOS, hyperandrogenemia |
|
Rotterdam 2004 criteria |
Related
|
100 Patients and 100 control |
Our study carried out in a defined group of Indian women with PCOS suggests for the first time an individual, as well as combined, association of polymorphisms in CYP11A1 and CYP17 promoters with T levels |
|
|
|
|
