Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney specific pathways.

The relationship between commonly occurring genetic variants (G1 and G2) in the APOL1 gene in African Americans and different disease traits, such as kidney disease, cardiovascular disease, and pre-eclampsia, remains the subject of controversy. Here we took a genotype-first approach, a phenome-wide association study, to define the spectrum of phenotypes associated with APOL1 high-risk variants in 1,837 African American participants of Penn Medicine Biobank and 4,742 African American participants of Vanderbilt BioVU.

Source: Kidney International - February 17, 2020 Category: Urology & Nephrology Authors: Archna Bajaj, Andrea Ihegword, Chengxiang Qiu, Aeron M. Small, Wei-Qi Wei, Lisa Bastarache, QiPing Feng, Rachel L. Kember, Marjorie Risman, Roy D. Bloom, David L. Birtwell, Heather Williams, Christian M. Shaffer, Jinbo Chen, Regeneron Genetics Center, Jos Tags: Clinical Investigation Source Type: research