Shuang Wei, Qingli Lei, Yingjie Chen, Yan Ping Xin
The Effects of Visual Cueing on Students with and without Math Learning Difficulties in Online Problem Solving: Evidence from Eye Movement
Behavioral sciences (Basel, Switzerland)
giant cell arteritis agerelated vasculitis mainly affects aorta branches individuals aged 50 years older current options diagnosis treatment scarce highlighting need better understand underlying pathogenesis genomewide association studies gwas emerged powerful tool unravelling pathogenic mechanisms involved complex diseases aimed characterise genetic basis giant cell arteritis performing largest gwas vasculitis date assess functional consequences clinical implications identified risk loci collected metaanalysed genomic data patients giant cell arteritis healthy controls european ancestry ten cohorts across europe north america eligible patients required confirmation giant cell arteritis diagnosis positive temporal artery biopsy positive temporal artery doppler ultrasonography imaging techniques confirming largevessel vasculitis assessed functional consequences loci associated giant cell arteritis using cell enrichment analysis finemapping causal gene prioritisation also performed drug repurposing analysis developed polygenic risk score explore clinical implications findings included total 3498 patients giant cell arteritis 15 550 controls identified three novel loci associated risk giant cell arteritis two loci mfge8 rs8029053 p496 108 119 95 ci 112126 vtn rs704 p275 109 084 079089 related angiogenesis pathways third locus ccdc25 rs11782624 p128 108 118 112125 related neutrophil extracellular traps nets also found association vasculitis hla region plg variants associated giant cell arteritis seemed fulfil specific regulatory role crucial immune cell types furthermore identified several drugs could represent promising candidates treatment disease polygenic risk score model able identify individuals increased risk developing giant cell arteritis 90th percentile 287 95 ci 215382 p173 1013 found several additional loci associated giant cell arteritis highlighting crucial role angiogenesis disease susceptibility study represents step forward translation genomic findings clinical practice giant cell arteritis proposing new treatments method measure genetic predisposition vasculitis institute health carlos iii spanish ministry science innovation uk medical research council national institute health care research