Silvia Di Maio
PhD

Postdoc

+43 512 9003 70567
silvia.di-maio@i-med.ac.at


About me

I am a biologist working in the field of Genetic Epidemiology and Computational Genomics. I focus on complex repetitive genomic regions — particularly tandem repeats — and their role in the missing heritability of human diseases, with a particular emphasis on the highly repetitive LPA gene and the impact of its genetic variants on lipoprotein(a) concentrations and cardiovascular disease risk in large-scale datasets.

News

2026

2025

Courses

WS 2025/2026

WS 2024/2025

Publications

2024 (4)

  1. Schönherr S*, Schachtl-Riess JF*, Di Maio S*, Filosi M, Mark M, Lamina C, Fuchsberger C, Kronenberg F, Forer L: Performing highly parallelized and reproducible GWAS analysis on biobank-scale data. NAR Genom Bioinform 6:lqae015, 2024. PMID: 38327871   Journal Article
  2. Di Maio S, Zöscher P, Weissensteiner H, Forer L, Schachtl-Riess JF, Amstler S, Streiter G, Pfurtscheller C, Paulweber B, Kronenberg F, Coassin S, Schönherr S: Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model. Genome Biol. 25:167, 2024. PMID: 38926899   Journal Article
  3. Amstler S, Streiter G, Pfurtscheller C, Forer L, Di Maio S, Weissensteiner H, Paulweber B, Schönherr S, Kronenberg F, Coassin S: Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. Genome Med. 16:117, 2024. PMID: 39380090   Journal Article
  4. Gruber I, Kollerits B, Forer L, Di Maio S, Schachtl-Riess JF, Kheirkhah A, Schönherr S, Schultheiss UT, Köttgen A, Eckardt KU, Coassin S, Lamina C, Kronenberg F: Lipoprotein(a) concentrations and cardiovascular disease in patients with chronic kidney disease: Results from the German Chronic Kidney Disease study. J. Intern. Med. 296:510-526, 2024. PMID: 39513193   Journal Article

2023 (2)

  1. Schachtl-Riess JF, Schönherr S, Lamina C, Forer L, Coassin S, Streiter G, Kheirkhah A, Li Y, Meiselbach H, Di Maio S, Eckardt KU, Köttgen A, Kronenberg F, GCKD investigators: KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study. Atherosclerosis 368:1-11, 2023. PMID: 36812656   Journal Article
  2. Kheirkhah A, Schachtl-Riess JF, Lamina C, Di Maio S, Koller A, Schönherr S, Coassin S, Forer L, Sekula P, Gieger C, Peters A, Köttgen A, Eckardt KU, Kronenberg F: Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations. Atherosclerosis 386:117384, 2023. PMID: 37989062   Journal Article

2022 (3)

  1. Di Maio S, Lamina C, Coassin S, Forer L, Würzner R, Schönherr S, Kronenberg F: Lipoprotein(a) and SARS-CoV-2 infections: Susceptibility to infections, ischemic heart disease and thromboembolic events. J. Intern. Med. 291:101-107, 2022. PMID: 34096654   Journal Article
  2. Grüneis R, Lamina C, Di Maio S, Schönherr S, Zoescher P, Forer L, Streiter G, Peters A, Gieger C, Köttgen A, Kronenberg F, Coassin S: The effect of LPA Thr3888Pro on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 variant 4925G>A. Atherosclerosis 349:151-159, 2022. PMID: 35534298   Journal Article
  3. Grüneis R, Weissensteiner H, Lamina C, Schönherr S, Forer L, Di Maio S, Streiter G, Peters A, Gieger C, Kronenberg F, Coassin S: The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat. J. Lipid Res. 63:100306, 2022. PMID: 36309064   Journal Article

2021 (1)

  1. Schachtl-Riess JF, Kheirkhah A, Grüneis R, Di Maio S, Schoenherr S, Streiter G, Losso JL, Paulweber B, Eckardt KU, Köttgen A, Lamina C, Kronenberg F, Coassin S, GCKD Investigators: Frequent LPA KIV-2 variants lower lipoprotein(a) concentrations and protect against coronary artery disease. J. Am. Coll. Cardiol. 78:437-449, 2021. PMID: 34325833   Journal Article

2020 (1)

  1. Di Maio S, Grüneis R, Streiter G, Lamina C, Maglione M, Schoenherr S, Öfner D, Thorand B, Peters A, Eckardt KU, Köttgen A, Kronenberg F, Coassin S: Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals. Genome Med. 12:74, 2020. PMID: 32825847   Journal Article