Unexpected results for APOL1 in Open Targets Genetics

[Shicheng_Guo]

Dear Team,

I randomly reviewed one gene: APOL1 in OT platform and compared with GWAS catalog and genebass, I find some unexpected results existed in OT platform. for example,

1, Serum levels of protein APOL1 should be significantly associated with APOL1 while OT don’t have it (P=4 x 10-55 in GWAS-catalog)

2, Diabetic kidney disease is well-known associated with APOL1, but not existed in OT platform.

GWAS Catalog

[irene]

Hi @Shicheng_Guo,

there is a current known issue that might cause missing significant associations in the Genetics Portal in comparison with what the GWAS Catalog reports. We have an open issue covering these cases () and we are actively working on revisiting the Genetics pipelines to fix them.

However you can still find the signals you mention above in the Platform:

• APOL1 and its serum levels. This association is supported by the Genetics Portal.
• APOL1 and diabetic nephrophraty. This association is supported by the Genetics Portal, Expression Atlas and text mining evidence.

Thank you for your question!
Best,
Irene