The paper identifies DNA methylation changes linked to cumulative hyperglycaemia in type 1 diabetes and links some to diabetic kidney disease through Mendelian randomization.

medRxiv · Sep 3, 2026 · PreprintGenetic & Genomic Medicine

Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1/lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement

Samaneh Farashi, Carla J. Abbott, Brendan R. E. Ansell, Zhichao Wu, Lebriz Altay, Ella Arnon, Louis Arnould, Yelena Bagdasarova, Konstantinos Balaskas, Fred Kuanfu Chen, Emily Y. Chew, Itay Chowers, Steven Clarke, Catherine A. Cukras, Cécile Delcourt, , Melanie Bahlo

Nature Communications · Dec 8, 2025Peer-reviewedGenetic & Genomic Medicine

Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes

Anna Syreeni, Emma H. Dahlström, Laura Jane Smyth, Claire Hill, Stefan Mutter, Yogesh Gupta, Valma Harjutsalo, Zhuo Chen, Rama D Natarajan, Andrzej S. Królewski, Joel N. Hirschhorn, José C. Florez, Alexander Peter Maxwell, Per‐Henrik Groop, Amy Jayne McKnight, Niina Sandholm

The paper identifies DNA methylation biomarkers associated with diabetic kidney disease progression in type 1 diabetes using a prospective cohort study.

medRxiv · Nov 28, 2024 · PreprintGenetic & Genomic Medicine

Shared genetic features between lymphoma pathogenesis and oestrogen levels.

Claire Hill, Marisa D. Muckian, Marisa Cañadas‐Garre, Graeme Greenfield, Alexander Peter Maxwell, Charlene M. McShane, Lesley Ann Anderson, Amy Jayne McKnight

This study identifies sex-specific genetic variants associated with lymphoma subtypes and oestrogen levels, revealing shared biological pathways influenced by oestrogen.

medRxiv · May 17, 2024 · PreprintGenetic & Genomic Medicine

Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease

Niina Sandholm, Joanne B. Cole, Viji Nair, Xin Sheng, Hongbo Liu, Emma Ahlqvist, Natalie R. van Zuydam, Emma H. Dahlström, Damian Fermin, Laura Jane Smyth, Rany M. Salem, Carol M. Forsblom, Erkka Valo, Valma Harjutsalo, Eoin Patrick Brennan, , Per‐Henrik Groop

Diabetologia · Jun 28, 2022Peer-reviewedGenetic & Genomic Medicine

Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease

Laura Jane Smyth, Jill Kilner, Viji Nair, Hengxi Liu, Eoin Patrick Brennan, Katie Kerr, Niina Sandholm, Joanne B. Cole, Emma H. Dahlström, Anna Syreeni, Rany M. Salem, Robert G. Nelson, Helen C. Looker, Christopher Wooster, Kerry Anderson, , Amy Jayne McKnight

The paper identifies differentially methylated loci in individuals with end-stage kidney disease due to diabetic kidney disease, linking them to key pathways and genes.

Clinical Epigenetics · May 1, 2021Peer-reviewedMolecular Biology

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

Thomas W. Winkler, Felix Graßmann, Caroline Brandl, Christina Kiel, Felix Günther, Tobias Strunz, Lorraine Weidner, Martina E. Zimmermann, Christina A. Korb, Alicia Poplawski, Alexander Karl-Georg Schuster, Martina Müller‐Nurasyid, Annette Peters, Franziska Georgia Rauscher, Tobias Elze, , Bernhard H. F. Weber

This study performs a genome-wide association meta-analysis of early AMD, identifying 11 loci, 9 novel, and highlighting shared and distinct genetic factors between early and advanced AMD.

BMC Medical Genomics · Aug 26, 2020Peer-reviewedGenetics

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

Rany M. Salem, Jennifer N. Todd, Niina Sandholm, Joanne B. Cole, Wei‐Min Chen, Darrel Andrews, Marcus G. Pezzolesi, Paul McKeigue, Linda T. Hiraki, Chengxiang Qiu, Viji Nair, Chen Di Liao, Jing Cao, Erkka Valo, Suna Önengüt-Gümüşcü, , José C. Florez

This study identifies 16 genome-wide significant loci associated with diabetic kidney disease, including a protective variant in the COL4A3 gene.

bioRxiv · Dec 19, 2018 · PreprintGenetics