BACKGROUND: Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (TLR)-2, TLR-4, and TLR-9 genes in Polish patients with mastocytosis. OBJECTIVES: The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls. METHOD: The frequency of polymorphisms R753Q (rs5743708) of TLR-2, 896 A>G (rs496790) of TLR-4, and -1237C>T (rs5743836) of TLR-9 genes were determined with the use of the amplification refractory mutation system polymerase chain reaction method. RESULTS: It was found that the R753Q TLR-2 gene polymorphism was significantly more frequent in patients with mastocytosis in comparison to healthy controls (p = 0.037) and in the group of SM versus controls (p = 0.0076). The presence in the genotype 753Q variant of TLR-2 gene increased the risk of mastocytosis more than 2-fold (OR 2.51; p = 0.04), and the risk of SM more than 4-fold (OR 4.22; p = 0.01). TLR-4 and TLR-9 polymorphisms were not associated with mastocytosis. CONCLUSIONS: Our results suggest that the R753Q polymorphism of the TLR-2 gene may be involved in the pathogenesis of mastocytosis.
BACKGROUND: Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (TLR)-2, TLR-4, and TLR-9 genes in Polish patients with mastocytosis. OBJECTIVES: The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls. METHOD: The frequency of polymorphisms R753Q (rs5743708) of TLR-2, 896 A>G (rs496790) of TLR-4, and -1237C>T (rs5743836) of TLR-9 genes were determined with the use of the amplification refractory mutation system polymerase chain reaction method. RESULTS: It was found that the R753QTLR-2 gene polymorphism was significantly more frequent in patients with mastocytosis in comparison to healthy controls (p = 0.037) and in the group of SM versus controls (p = 0.0076). The presence in the genotype 753Q variant of TLR-2 gene increased the risk of mastocytosis more than 2-fold (OR 2.51; p = 0.04), and the risk of SM more than 4-fold (OR 4.22; p = 0.01). TLR-4 and TLR-9 polymorphisms were not associated with mastocytosis. CONCLUSIONS: Our results suggest that the R753Q polymorphism of the TLR-2 gene may be involved in the pathogenesis of mastocytosis.
Authors: Gabriella Galatà; Andrés C García-Montero; Thomas Kristensen; Ahmed A Z Dawoud; Javier I Muñoz-González; Manja Meggendorfer; Paola Guglielmelli; Yvette Hoade; Ivan Alvarez-Twose; Christian Gieger; Konstantin Strauch; Luigi Ferrucci; Toshiko Tanaka; Stefania Bandinelli; Theresia M Schnurr; Torsten Haferlach; Sigurd Broesby-Olsen; Hanne Vestergaard; Michael Boe Møller; Carsten Bindslev-Jensen; Alessandro M Vannucchi; Alberto Orfao; Deepti Radia; Andreas Reiter; Andrew J Chase; Nicholas C P Cross; William J Tapper Journal: Am J Hum Genet Date: 2021-01-08 Impact factor: 11.025
Authors: Boguslaw Nedoszytko; Michel Arock; Jonathan J Lyons; Guillaume Bachelot; Lawrence B Schwartz; Andreas Reiter; Mohamad Jawhar; Juliana Schwaab; Magdalena Lange; Georg Greiner; Gregor Hoermann; Marek Niedoszytko; Dean D Metcalfe; Peter Valent Journal: Int J Mol Sci Date: 2021-01-02 Impact factor: 5.923
Authors: Bogusław Nedoszytko; Marta Sobalska-Kwapis; Dominik Strapagiel; Magdalena Lange; Aleksandra Górska; Joanne N G Oude Elberink; Jasper van Doormaal; Marcin Słomka; Leszek Kalinowski; Marta Gruchała-Niedoszytko; Roman J Nowicki; Peter Valent; Marek Niedoszytko Journal: Int J Mol Sci Date: 2020-07-31 Impact factor: 5.923
Authors: Camila F Oliveira-Toré; Amarilis G Moraes; Gabriela F Martinez; Janisleya S F Neves; Luciana C Macedo; Marco A Rocha-Loures; Marília G Quirino; Hugo V Alves; Ana M Sell; Jeane E L Visentainer Journal: J Immunol Res Date: 2019-10-30 Impact factor: 4.818