Publications

Photo: AI generated

Explore all of Natalia Rivera's scientific contributions on her ORCID record or Web of Science ResearcherID with a few special highlights listed below!

A State-Of-The-Art Review.

Miedema JR, Bonella F, Buschulte K, Culver DA, Jeny F, Obi ON, Rivera NV, Spagnolo P, Veltkamp M, Wijsenbeek M. Sarcoidosis: Eur Respir J. 2025 Nov 13:2501324. doi: 10.1183/13993003.01324-2025. PMID: 41232941. Publication link

Genetics in Sarcoidosis and Its Burden as a Multisystem Disease.

Rivera NV, Eklund A. Semin Respir Crit Care Med. 2025 Nov 24. doi: 10.1055/a-2741-2120. PMID: 41285390. Publication link

From Genes to Granulomas: The Role of Genetics in Sarcoidosis.

Petrek M, Rivera NV.Curr Opin Immunol. 2025 Sep 19;97:102663. doi: 10.1016/j.coi.2025.102663. PMID: 40974839. Publication link

Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies.

Rivera NV and Israël-Biet D. Curr Allergy Asthma Rep. 2025 Sep;25(1):42. doi: 10.1007/s11882-025-01222-9. PMID: 41026325. Publication link

Unraveling Genetics in Sarcoidosis: Next Steps.

Rivera NV. Editorial, Archivos de Bronconeumología, 2025 April. 26:S0300-2896(25)00150-4. doi: 10.1016/j.arbres.2025.04.014. Publication link

WASOG 2023 conference highlights. Sarcoidosis.

Chuquimia OD, Rivera NV. Vasc Diffuse Lung Dis. 2024 Sept; 41(3):e2024045. doi: 10.36141/svdld.v41i3.16196. PMID: 39315972. Publication link

Unraveling genetic mysteries: phenotype-shaping profiles in chronic sarcoidosis (preprint)

Kullberg S, Darlington P, Ellinghaus D, Prasse A, Iseda T, Chuquimia O, Eklund A, Schreiber S, Müller-Quernheim J, Kockum, Wheelock ÅM, Padyukov L, Mirsaeidi MS, Spagnolo P, Rivera NV. MedRxiv 2024.12.29.24319750; doi:10.1101/2024.12.29.24319750. Publication link

Big data in sarcoidosis.

Rivera NV. Curr Opin Pulm Med. 2024 Jul. doi: 10.1097/MCP.0000000000001102. PMID: 38967053. Publication link

Functional link between sarcoidosis-associated gene variants and quantitative levels of bronchoalveolar lavage fluid cell types

Abo Al Hayja M, Kullberg S, Eklund A, Padyukov L, Grunewald J, Rivera NV. Front Med (Lausanne). 2023 Feb 7;10:1061654. doi: 10.3389/fmed.2023.1061654. PMID: 36824606; Publication link

Genetic variants associated with sarcoidosis are likely to modulate quantitative levels of BAL cell types and may regulate gene expression in immune cell populations. Thus, the role of sarcoidosis-associated gene variants may be to influence cellular phenotypes underlying the disease immunopathology.

Gene-based analysis in LS and non-LS sex groups across all cohorts at p < 2e-6. ls, LS in SWE; non-ls1, non-LS in SWE and GER; non-ls2, non-LS in SWE, GER, and USA-AA; shared, genes shared by sex groups; male, genes associated with males only; female, genes associated with females only.

Sex differences in the genetics of sarcoidosis across European and African ancestry populations

Xiong Y, Kullberg S, Garman L, Pezant N, Ellinghaus D, Vasila V, Eklund A, Rybicki BA, Iannuzzi MC, Schreiber S, Müller-Quernheim J, Montgomery CG, Grunewald J, Padyukov L, Rivera NV. Front Med (Lausanne). 2023 May 11;10:1132799. doi: 10.3389/fmed.2023.1132799. PMID: 37250650. Publication link

Sex differences in the susceptibility to sarcoidosis are unknown. The study aimed to identify sex-dependent genetic variations in two clinical sarcoidosis phenotypes: Löfgren's syndrome (LS) and non-Löfgren's syndrome (non-LS). The findings of this study provided new evidence of a sex bias underlying the genetic architecture of sarcoidosis, particularly in the clinical phenotypes LS and non-LS. Biological sex likely plays a role in disease mechanisms in sarcoidosis.

Genomic regions interacting with smoking in LS. From the center, the first circos depicts the odds ratio due to double exposure i.e., the effect of both SNP allele and smoking (in red). The second circos illustrates the effect of smoking (green). The third circos depicts the effect of the SNP allele (blue). The fourth circos shows the autosomal chromosomes (1–22) ideogram and highlights the genomic loci interacting with smoking.

A Gene-Environment Interaction Between Smoking and Gene Polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis

Rivera NV, Patasova K, Kullberg S, Diaz-Gallo LM, Iseda T, Bengtsson C, Alfredsson L, Eklund A, Kockum I, Grunewald J, Padyukov L. Sci Rep. 2019 Dec 9;9(1):18633. doi: 10.1038/s41598-019-54612-1. PMID: 31819081. Publiation link

The findings in this study suggest that sarcoidosis risk is modulated by smoking due to genetic susceptibility. Therefore, patients having certain gene variants, are at a higher risk for the disease. Consideration of an individual's genetic predisposition is crucial to quantify the effects of smoking in sarcoidosis.

Photo: Mesargen

Common variants of T-cells contribute differently to phenotypic variation in sarcoidosis

Rivera NV, Hagemann-Jensen M, Ferreira MAR, Kullberg S, Eklund A, Martin NG, Padyukov L, Grunewald J. Sci Rep. 2017 Jul 17;7(1):5623. doi: 10.1038/s41598-017-05754-7. PMID: 28717140. Publication link

Differences in significant polygenic scores, presence of pleiotropy, and distinct genetic factors provide further insights on how genetic variants and genes associated with relative levels of T-cell subtypes contribute differently to sarcoidosis phenotypes.

Lofgren syndrome (LS), non-Lofgren syndrome (non-LS), and healthy controls (HC)

Regional association plots of chr6:25527073–33191175. Löfgren’s syndrome (LS)-associated single-nucleotide polymorphisms (SNPs) (top) at PGC < 5 × 10−8 highlight region chr6:28910128–3295881. Non-LS–associated SNPs (bottom) at PGC < 5 × 10−8 highlight region chr6: 32447326–32789970. PGC = genomic-controlled P value.

High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences

Rivera NV, Ronninger M, Shchetynsky K, Franke A, Nöthen MM, Müller-Quernheim J, Schreiber S, Adrianto I, Karakaya B, van Moorsel CH, Navratilova Z, Kolek V, Rybicki BA, Iannuzzi MC, Petrek M, Grutters JC, Montgomery C, Fischer A, Eklund A, Padyukov L, Grunewald J. Am J Respir Crit Care Med. 2016 May 1;193(9):1008-22. doi: 10.1164/rccm.201507-1372OC. PMID:26651848. Publication link

Genetic investigations of sarcoidosis sub-phenotypes: Lofgren syndrome (LS) and Non-Lofgren syndrome (non-LS) – revealed that these sub-phenotypes have their own genetic architecture with a common genomic overlap located on the extended major histocompatibility complex (MHC) region.

Recent advances in sarcoidosis genomics: epigenetics, gene expression, and gene-by-environment (G × E) interaction studies.

Garman L, Montgomery CG, Rivera NV. Curr Opin Pulm Med. 2020 Sep;26(5):544-553. doi: 10.1097/MCP.0000000000000719. PMID: 32701681. Publication link