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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

Open access

Marco Marino, Valentina Cirello, Valentina Gnarini, Carla Colombo, Elisa Pignatti, Livio Casarini, Chiara Diazzi, Vincenzo Rochira, Katia Cioni, Bruno Madeo, Cesare Carani, Manuela Simoni and Laura Fugazzola

unaffected tissue of the thyroid gland (4) . In particular, two studies have shown the association between pre-miR-146a rs2910164 and PTC, evaluating the impact of this single-nucleotide polymorphism (SNP) on the regulation of target mRNAs (5, 6) . As a

Open access

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

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

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

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

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

Breast cancer in men is a rare and still poorly characterized disease. Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition. Male breast cancer is considered a hormone-dependent tumor specifically related to hyperestrogenism. Polymorphisms in genes involved in estrogen biosynthesis and metabolism pathways, such as CYP17A1 and CYP1B1, have been associated with breast cancer risk. Here, we aimed to investigate the role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk. A series of 597 male breast cancer cases and 1022 male controls, recruited within the Italian Multicenter Study on male breast cancer, was genotyped for CYP17A1 rs743572, CYP1B1 rs1056836 and rs1800440 polymorphisms by allelic discrimination real-time PCR with TaqMan probes. Associations with male breast cancer risk were estimated using logistic regression. No statistically significant associations between male breast cancer risk and the three analyzed polymorphisms emerged. Similar results were obtained also when BRCA1/2 mutational status was considered. No significant differences in the distribution of the genotypes according to estrogen receptor status emerged. In conclusion, our study, based on a large series of male breast cancer cases, is likely to exclude a relevant role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer predisposition. Overall, these results add new data to the increasing evidence that polymorphisms in these genes may not be associated with breast cancer risk.

Open access

Mabel E Bohórquez, Ana P Estrada, Jacob Stultz, Ruta Sahasrabudhe, John Williamson, Paul Lott, Carlos S Duque, Jorge Donado, Gilbert Mateus, Fernando Bolaños, Alejandro Vélez, Magdalena Echeverry and Luis G Carvajal-Carmona

Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population.