Accès ouvert
2026
article
OpenAlex
Minna Kraatari‐Tiri, Hina Ishtiaq, Jaakko Tyrmi, Siying Lin et autres
Importance: Substantial unexplained heritability remains for pathogenic inherited retinal disease (IRD) variants. Application of genome-wide association studies (GWAS) could help identify causal genes in rare diseases. Objective: To leverage a GWAS for the discovery of IRD-associated genes. Design, Setting, and Participants: This …
fi, gb, us
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Fiona A. Hagenbeek, Anne Richmond, Max Tamlander, Kira E. Detrois et autres
BACKGROUND: Differences in disease risk are linked to inherited genetic variation and social circumstances, but how these factors jointly relate to multiple diseases is not fully understood. This study investigates the independent and combined associations of genetic predisposition and socioeconomic status with …
fi, nl, gb, us, de
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Eemeli S. Tusa, Max Tamlander, Samuli Ripatti, Mika P. Harju et autres
PURPOSE: To investigate the clinical usefulness of a glaucoma polygenic risk score (PRS) for glaucoma by benchmarking published glaucoma PRSs and by assessing how the best-performing PRS performs for assessing glaucoma risk, age at onset, and glaucoma prognosis. DESIGN: Cohort study. PARTICIPANTS: …
fi
(code pays fourni par la source)
Accès ouvert
2026
conference-abstract
OpenAlex
Laurent Peyrin-Biroulet, Swati Venkat, Sunandini Sridhar, Klebea Sohn et autres
Objective Guselkumab (GUS) is a dual-acting IL-23p19 inhibitor that neutralises IL-23 and binds to CD64. GUS intravenous (IV) induction and subcutaneous (SC) maintenance was effective in patients (pts) with moderate to severe UC (QUASAR). Week 12 (W12) results from ASTRO showed efficacy …
fr, us
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Jarkko Toivonen, Jonna Clancy, Aarno Palotie, Mark Daly et autres
BACKGROUND & AIMS: Hereditary hemochromatosis is an autosomal recessive disorder of excessive iron accumulation. Early diagnosis enables treatment before organ damage. The C282Y variant in the HFE gene is the main cause, but its penetrance of only 20% limits its utility for …
fi
(code pays fourni par la source)