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Ozlem Atan Sahin, Damla Goksen, Aysel Ozpinar, Muhittin Serdar and Huseyin Onay

steroid-receptor superfamily, and it is expressed in many cell types such as lymphocytes and antigen-presenting cells (APCs) ( 1 ). During the last decade, VDR gene polymorphisms have been shown to be associated with autoimmune pathologies ( 2 ). Vitamin D

Open access

Renata C Scalco, Ericka B Trarbach, Edoarda V A Albuquerque, Thais K Homma, Thais H Inoue-Lima, Mirian Y Nishi, Berenice B Mendonca and Alexander A L Jorge

) and karyotype ( 7 ). Nevertheless, there are controversies among studies and none of these factors can thoroughly explain the interindividual variation. Genome-wide association studies (GWAS) showed that polymorphisms in estrogen receptor 1 gene

Open access

Piera Rizzolo, Valentina Silvestri, Virginia Valentini, Veronica Zelli, Agostino Bucalo, Ines Zanna, Simonetta Bianchi, Maria Grazia Tibiletti, Antonio Russo, Liliana Varesco, Gianluca Tedaldi, Bernardo Bonanni, Jacopo Azzollini, Siranoush Manoukian, Anna Coppa, Giuseppe Giannini, Laura Cortesi, Alessandra Viel, Marco Montagna, Paolo Peterlongo, Paolo Radice, Domenico Palli and Laura Ottini

, increase the risk of developing MBC ( 2 , 3 , 4 ). Common polymorphisms may also contribute to MBC genetic predisposition and may have a modifying effect on BC risk for male BRCA1/2 mutation carriers, particularly through a polygenic inheritance model

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Yao Chen and Shu-ying Fang

steroid biosynthesis and action, gonadotropic secretion and action, folliculogenesis, weight and energy regulation and insulin action ( 13 ). In this review, we aimed to provide an overview of the main genetic polymorphisms that were found or

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Kirsty G Pringle, Sarah J Delforce, Yu Wang, Katie A Ashton, Anthony Proietto, Geoffrey Otton, C Caroline Blackwell, Rodney J Scott and Eugenie R Lumbers

can often be attributed to single nucleotide polymorphisms (SNPs) in RAS genes. In this study, we measured the prevalence of five polymorphisms in RAS genes in Australian women with EC and in healthy controls. These polymorphisms were AGT (rs699

Open access

Anastasia K Armeni, Konstantinos Assimakopoulos, Dimitra Marioli, Vassiliki Koika, Euthychia Michaelidou, Niki Mourtzi, Gregoris Iconomou and Neoklis A Georgopoulos

sensitivity ( 8 ). Estrogens binding to estrogen receptors (ERA or ERB) activate estrogen-responsive genes and stimulate ER-positive cell lines. Although single-nucleotide polymorphisms (SNPs) of ERB gene (rs1271572, rs4986938 and rs928554) have been

Open access

Kathrin Zopf, Kathrin R Frey, Tina Kienitz, Manfred Ventz, Britta Bauer and Marcus Quinkler

Introduction Polymorphisms of the glucocorticoid receptor (GR) may influence the sensitivity to glucocorticoids by altering the GR expression (e.g. reducing transcription) and influencing transactivation and transrepression of target genes

Open access

E R Polina, F M Oliveira, R C Sbruzzi, D Crispim, L H Canani and K G Santos

, maturation or target binding, thereby affecting disease susceptibility and progression ( 7 , 8 ). However, to date, there are almost no studies on the association of polymorphisms in miRNA genes with DR ( 9 , 10 ). miR-155 controls both the innate and

Open access

Weiwei He, Bin Wang, Kaida Mu, Jing Zhang, Yanping Yang, Wei Yao, Sheli Li and Jin-an Zhang

in patients in the 20–40 years age group. We have previously found that polymorphisms in some genes such as CTLA4 and PTPN22 ( 12 , 13 ) were associated with GD. Interleukin (IL)-27 (IL27) has an important role in shaping Th cell responses and is

Open access

Amarjit Saini, Linda Björkhem-Bergman, Johan Boström, Mats Lilja, Michael Melin, Karl Olsson, Lena Ekström, Peter Bergman, Mikael Altun, Eric Rullman and Thomas Gustafsson

on myoblast proliferation and differentiation suggesting it is important in maintaining the SC pool ( 16 ). The VDR gene has multiple polymorphisms, most of which are identified by a bi-allelic variation in the restriction endonuclease site (e