rs11973028 (JAZF1): ovarian cancer link
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Key takeaways
- rs11973028 in JAZF1 is linked to ovarian cancer
- The variant raises risk based on a GWAS study of about 7 thousand people
- GTEx data show increased expression in arteries and esophagus
Key takeaways
- rs11973028 in JAZF1 is linked to ovarian cancer
- The variant raises risk based on a GWAS study of about 7 thousand people
- GTEx data show increased expression in arteries and esophagus
What the research says The GWAS Catalog reports that rs11973028 in JAZF1 is associated with epithelial ovarian cancer with a reported effect size of 1.51 and p=1e-6 in about 7 thousand individuals [30898391]. GTEx data indicate increased expression of TAX1BP1 in artery aorta, esophagus mucosa, artery coronary, artery tibial [GTEx Portal] and increased expression of HIBADH in artery tibial, artery aortic, esophagus muscularis, colon sigmoid, colon transverse [GTEx Portal].
Reported associations
- Epithelial ovarian cancer: the variant is associated with higher risk, reported effect size 1.51 p=1e-6 in about 7 thousand individuals [30898391]
Evidence quality The evidence comes from a GWAS Catalog association involving roughly 7 thousand participants with an effect size of 1.51 and p=1e-6 indicating strong statistical significance [30898391]. No other studies are provided, so replication is not reported.
Tissue-specific expression effects
- TAX1BP1: increased expression in artery aorta, esophagus mucosa, artery coronary, artery tibial [GTEx Portal]
- HIBADH: increased expression in artery tibial, artery aortic, esophagus muscularis, colon sigmoid, colon transverse [GTEx Portal]
No lifestyle considerations on file for this variant.
Frequently asked questions
What does rs11973028 mean?
rs11973028 is a single nucleotide change in the JAZF1 gene that has been associated with ovarian cancer.
Is this variant harmful?
The study shows it increases risk for epithelial ovarian cancer but does not cause disease on its own.
Can I test for this SNP?
You can check your DNA file for rs11973028 using any raw data analysis tool that supports the variant.