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Please use this identifier to cite or link to this item: http://hdl.handle.net/123456789/11982

Title: Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti
Authors: Debrah, Linda Batsa
Albers, Anna
Debrah, Alexander Yaw
Brockschmidt, Felix F.
Becker, Tim
Herold, Christine
Hofmann, Andrea
Osei-Mensah, Jubin
Mubarik, Yusif
Fröhlich, Holger
Hoerauf, Achim
Pfarr, Kenneth
Keywords: Lymphatic filariasis
Single nucleotide polymorphisms
Issue Date: Dec-2017
Publisher: Human genomics
Citation: Human genomics 11(1)
Abstract: Background Lymphedema (LE) is a chronic clinical manifestation of filarial nematode infections characterized by lymphatic dysfunction and subsequent accumulation of protein-rich fluid in the interstitial space—lymphatic filariasis. A number of studies have identified single nucleotide polymorphisms (SNPs) associated with primary and secondary LE. To assess SNPs associated with LE caused by lymphatic filariasis, a cross-sectional study of unrelated Ghanaian volunteers was designed to genotype SNPs in 285 LE patients as cases and 682 infected patients without pathology as controls. One hundred thirty-one SNPs in 64 genes were genotyped. The genes were selected based on their roles in inflammatory processes, angiogenesis/lymphangiogenesis, and cell differentiation during tumorigenesis. Results Genetic associations with nominal significance were identified for five SNPs in three genes: vascular endothelial growth factor receptor-3 (VEGFR-3) rs75614493, two SNPs in matrix metalloprotease-2 (MMP-2) rs1030868 and rs2241145, and two SNPs in carcinoembryonic antigen-related cell adhesion molecule-1 (CEACAM-1) rs8110904 and rs8111171. Pathway analysis revealed an interplay of genes in the angiogenic/lymphangiogenic pathways. Plasma levels of both MMP-2 and CEACAM-1 were significantly higher in LE cases compared to controls. Functional characterization of the associated SNPs identified genotype GG of CEACAM-1 as the variant influencing the expression of plasma concentration, a novel finding observed in this study. Conclusion The SNP associations found in the MMP-2, CEACAM-1, and VEGFR-3 genes indicate that angiogenic/lymphangiogenic pathways are important in LE clinical development. Electronic supplementary material The online version of this article (10.1186/s40246-017-0121-7) contains supplementary material, which is available to authorized users.
Description: This article is published in Human genomics and also available at DOI: 10.1186/s40246-017-0121-7
URI: 10.1186/s40246-017-0121-7
Appears in Collections:College of Health Sciences

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