AF and stroke are related and ZNF566, PDZK1IP1, ZFHX3, and PITX2 genes are significantly associated with novel biomarkers involved in AF-related stroke.
Our results also supported robust associations with ischaemic stroke for four other loci that have been reported in previous studies, including PITX2 (first stage OR 1·39, 1·29-1·49, p=3·26 × 10<sup>-19</sup>; joint OR 1·37, 1·30-1·45, p=2·79 × 10<sup>-32</sup>) and ZFHX3 (first stage OR 1·19, 1·11-1·27, p=2·93 × 10<sup>-7</sup>; joint OR 1·17, 1·11-1·23, p=2·29 × 10<sup>-10</sup>) for cardioembolic stroke, and HDAC9 (first stage OR 1·29, 1·18-1·42, p=3·50 × 10<sup>-8</sup>; joint OR 1·24, 1·15-1·33, p=4·52 × 10<sup>-9</sup>) for large artery atherosclerosis stroke.
In our study we are focusing on a possible correlation between detection of atrial fibrillation by an implantable ECG recorder, and PITX2 and/or ZFHX3 gene mutations in cryptogenic stroke/TIA patients.
We verified previous associations for cardioembolic stroke near PITX2 (p=2·8×10(-16)) and ZFHX3 (p=2·28×10(-8)), and for large-vessel stroke at a 9p21 locus (p=3·32×10(-5)) and HDAC9 (p=2·03×10(-12)).
Each of these underlying pathologies may have a specific genetic architecture.Previous genome-wide association studies (GWAS) showed association of variants near PITX2 and ZFHX3 with atrial fibrillation and stroke.