Authors
Edwin Jabbari, John Woodside, Manuela MX Tan, Maryam Shoai, Alan Pittman, Raffaele Ferrari, Kin Y Mok, David Zhang, Regina H Reynolds, Rohan de Silva, Max‐Joseph Grimm, Gesine Respondek, Ulrich Müller, Safa Al‐Sarraj, Stephen M Gentleman, Andrew J Lees, Thomas T Warner, John Hardy, Tamas Revesz, Günter U Höglinger, Janice L Holton, Mina Ryten, Huw R Morris
Publication date
2018/10
Journal
Annals of neurology
Volume
84
Issue
4
Pages
485-496
Description
Objective
The basis for clinical variation related to underlying progressive supranuclear palsy (PSP) pathology is unknown. We performed a genome‐wide association study (GWAS) to identify genetic determinants of PSP phenotype.
Methods
Two independent pathological and clinically diagnosed PSP cohorts were genotyped and phenotyped to create Richardson syndrome (RS) and non‐RS groups. We carried out separate logistic regression GWASs to compare RS and non‐RS groups and then combined datasets to carry out a whole cohort analysis (RS = 367, non‐RS = 130). We validated our findings in a third cohort by referring to data from 100 deeply phenotyped cases from a recent GWAS. We assessed the expression/coexpression patterns of our identified genes and used our data to carry out gene‐based association testing.
Results
Our lead single nucleotide polymorphism (SNP), rs564309 …
Scholar articles
E Jabbari, J Woodside, MMX Tan, M Shoai, A Pittman… - Annals of neurology, 2018