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1.	Graff, M, et al. (author) Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults 2017 In: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 13:8, s. e1006972- Journal article (other academic/artistic)
2.	Rivera, NV, et al. (author) Common variants of T-cells contribute differently to phenotypic variation in sarcoidosis 2017 In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1, s. 5623- Journal article (peer-reviewed)abstract The involvement of the immune system, particularly the role of T-cells, in sarcoidosis is unclear. The existence of higher CD4+ T-cells and increased CD4/CD8 ratio may indicate a pathogenic role of T-cells in the disease. In this study, we quantified the contribution of T-cells associated variants and of CD4/CD8 ratio in sarcoidosis phenotypes, Löfgren’s syndrome (LS) and non- Löfgren’s syndrome (non-LS). We employed a polygenic-based approach using genome-wide association studies results on relative levels of T-cells in healthy individuals to measure the genetic contribution of T-cells in sarcoidosis entities. Results revealed that the genetic architecture of LS is highly influenced by genetic variants associated with CD8+ T-cells and CD4/CD8 ratio, explaining up to 7.94% and 6.49% of LS variation, respectively; whereas, the genetic architecture of non-LS is minimally influenced by T-cells, explaining a phenotypic variation of <1%. Moreover, pleiotropy assessment between T-cells and LS/non-LS associated-variants led to the discovery of highly scored pathway maps that shared common factors related to antigen presentation and T-cell regulatory mechanisms. 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.

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Type of publication: journal article (2)

Type of content: other academic/artistic (1); peer-reviewed (1)

Author/Editor: Martin, NG (2); Liu, Y. (1); Wu, Y. (1); Hottenga, JJ (1); Willemsen, G (1); Peters, A (1); show more...; Huppertz, C (1); Huang, T. (1); Mahajan, A. (1); Ahmad, S. (1); Luan, J. (1); Zhang, W. (1); Huang, J. (1); Balkau, B. (1); Langenberg, C. (1); Tanaka, T. (1); Boomsma, DI (1); Amin, N (1); van Duijn, CM (1); Penninx, BWJH (1); Loos, RJF (1); Vandenput, Liesbeth, ... (1); Lorentzon, Mattias, ... (1); Hadley, D. (1); Walker, M (1); Perez, J. (1); März, W (1); Zhao, W. (1); Grunewald, J (1); Padyukov, L (1); Eklund, A (1); Milaneschi, Y (1); Smith, AV (1); Teumer, A (1); Blangero, J (1); De Geus, EJC (1); Gudnason, V (1); Hartman, CA (1); Hofman, A (1); Montgomery, GW (1); Nauck, M (1); Uitterlinden, AG (1); Launer, LJ (1); Fornage, M (1); Xue, L. (1); Smith, GD (1); Ohlsson, Claes, 1965 (1); Lim, E. (1); Haiman, CA (1); Froguel, P (1); show less...

University: Karolinska Institutet (2); University of Gothenburg (1); Uppsala University (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year: 2017 (2)Undo refine

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