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Genes 2017, 8(4), 126; doi:10.3390/genes8040126

Functional Analysis of the rs774872314, rs116171003, rs200231898 and rs201107751 Polymorphisms in the Human RORγT Gene Promoter Region

1
Laboratory of TranscriptionalRegulation, Institute of MedicalBiology, PolishAcademy of Sciences, 93-232 Lodz, Poland
2
BiobankLab, Department of MolecularBiophysics, Faculty of Biology and Environmental Protection, University of Lodz, 90-237 Lodz, Poland
3
MycobacteriumGenetics and Physiology Unit, Institute of MedicalBiology, PolishAcademy of Sciences, 93-232 Lodz, Poland
4
Laboratory of Cellular Immunology, Institute of MedicalBiology, PolishAcademy of Sciences, 93-232 Lodz, Poland
*
Author to whom correspondence should be addressed.
Academic Editor: Santiago Rodriguez
Received: 20 March 2017 / Revised: 12 April 2017 / Accepted: 13 April 2017 / Published: 21 April 2017
(This article belongs to the Section Human Genomics and Genetic Diseases)
View Full-Text   |   Download PDF [2428 KB, uploaded 21 April 2017]   |  

Abstract

RAR-related orphan receptor gamma RORγT, a tissue-specific isoform of the RORC gene, plays a critical role in the development of naive CD4+ cells into fully differentiated Th17 lymphocytes. Th17 lymphocytes are part of the host defense against numerous pathogens and are also involved in the pathogenesis of inflammatory diseases, including autoimmune disorders. In this study, we functionally examined four naturally occurring polymorphisms located within one of the previously identified GC-boxes in the promoter region of the gene. The single nucleotide polymorphisms (SNPs) rs774872314, rs116171003 and rs201107751 negatively influenced the activity of the RORγT promoter in a gene reporter system and eliminated or reduced Sp1 and Sp2 transcription factor binding, as evidenced by the electrophoretic mobility shift assay (EMSA) technique. Furthermore, we investigated the frequency of these SNPs in the Polish population and observed the presence of rs116171003 at a frequency of 3.42%. Thus, our results suggest that polymorphisms within the RORγT promoter occurring at significant rates in populations affect promoter activity. This might have phenotypic effects in immune systems, which is potentially significant for implicating pathogenetic mechanisms under certain pathological conditions, such as autoimmune diseases and/or primary immunodeficiencies (e.g., immunoglobulin E (IgE) syndrome). View Full-Text
Keywords: RORγT; RORC; Th17; promoter; polymorphism RORγT; RORC; Th17; promoter; polymorphism
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Ratajewski, M.; Słomka, M.; Karaś, K.; Sobalska-Kwapis, M.; Korycka-Machała, M.; Sałkowska, A.; Dziadek, J.; Strapagiel, D.; Dastych, J. Functional Analysis of the rs774872314, rs116171003, rs200231898 and rs201107751 Polymorphisms in the Human RORγT Gene Promoter Region. Genes 2017, 8, 126.

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