Polymorphisms in FTO and TCF7L2 genes of Euro-Brazilian women with gestational diabetes Sandra Fabrico de Melo a , Henrique Ravanhol Frigeri a,b , Izabella Castilhos Ribeiro dos Santos-Weiss a , Rosângela Roginski Réa c , Emanuel Maltempi de Souza d , Dayane Alberton a , Fabiane Gomes de Moraes Rego a , Geraldo Picheth a, ⁎ a Post-Graduate Program in Pharmaceutical Science, Federal University of Parana, Brazil b Health and Biosciences School, Pontifical Catholic University of Parana, Curitiba, Parana, Brazil c Endocrinology and Metabolism Service (SEMPR), Clinical Hospital, Federal University of Parana, Brazil d Department of Biochemistry and Molecular Biology, Federal University of Parana, Brazil abstract article info Article history: Received 27 February 2015 Received in revised form 14 May 2015 Accepted 15 June 2015 Available online xxxx Keywords: Gestational diabetes mellitus FTO TCF7L2 Polymorphisms Case-controlled study SNP Objective: To investigate the association between fat mass and obesity-associated (FTO) gene polymor- phisms rs8050136C N A and rs9939609T N A, and transcription factor 7-like 2 (TCF7L2) gene polymorphisms rs12255372G N T and rs7903146C N T, in a sample group of pregnant Euro-Brazilian women with or without gestational diabetes mellitus (GDM). Methods: Subjects were classified as either healthy pregnant control (n = 200) or GDM (n = 200) according to the 2010 criteria of the American Diabetes Association. The polymorphisms were genotyped using fluorescent probes (TaqMan®). Results: All groups were in the Hardy–Weinberg equilibrium. The genotype and allele frequencies of the examined polymorphisms did not exhibit significant difference (P N 0.05) between the groups. In the healthy and GDM pregnant women groups, the A-allele frequencies (95% CI) of FTO polymorphisms rs8050136 and rs9939609 were 39% (34–44%); 38% (33–43%) and 40% (35–45%); 41% (36–46%), respectively; and the T-allele frequencies of TCF7L2 polymorphisms rs12255372 and rs7903146 were 30% (26–35%), 32% (27–37%) and 29% (25–34%), 36% (31–41%), respectively. Conclusion: The examined polymorphisms were not associated with GDM in the Euro-Brazilian population studied. © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. Introduction Gestational diabetes mellitus (GDM) is a type of diabetes diagnosed during pregnancy, which is not considered to be overt diabetes; GDM affects 1–14% of all pregnancies worldwide, with rising incidence level [1]. GDM occurs in about 7% of pregnancies in Brazil, a prevalence that is rapidly increasing in association with the obesity epidemic [2]. Chronic hyperglycemia in GDM is associated with an increase in the morbimortality of both the mother and fetus [3]. Patients with GDM have increased risk of developing type 2 diabetes (T2D), and the children of GDM mothers are more susceptible to diabetes and obesity in adult life [1]. Obesity and family history of diabetes are two major risk factors common to GDM and T2D [4]. These similarities suggest that both these diseases could share genetic factors such as single nucleotide polymorphisms (SNPs) involved in disease predisposition [5]. Fat mass and obesity-associated (FTO) is a protein-coding gene located in chromosome region 16q12.2 (NCBI GeneID: 79068). It was initially described in mice and encodes for a 502 amino acid protein [6]. The FTO is associated with the control of food intake and energy balance. However, the function of FTO remains to be elucidated [7]. Polymorphisms (SNPs) in this gene have been associated with obesity in European subjects, as well as with the increase of fat mass in other populations [7–9]. FTO SNPs rs8050136C N A and rs9939609T N A were shown to be associated with fat body mass accumulation and obesity in several studies, primarily among Asians and Europeans [6,10,11]. The transcription factor 7-like 2 (TCF7L2) gene is located in chromo- some region 10q25.3 (NCBI GeneID: 6934), and encodes for a protein of 596 amino acids [12]. The TCF7L2 protein is involved in the Wnt signal- ing pathway. The Wnt glycoprotein enhances the formation of heterodi- mers of beta-catenin with TCF7L2, which induces the expression of several genes such as glucagon-like peptide-1 (GLP-1), insulin, and Clinical Biochemistry xxx (2015) xxx–xxx ⁎ Corresponding author at: Clinical Analysis Department, Federal University of Paraná, Curitiba, Parana, Brazil Rua Prefeito Lothário Meissner, 632, 80210-170 Curitiba, PR, Brazil. E-mail address: gpicheth@ufpr.br (G. Picheth). CLB-09055; No. of pages: 4; 4C: http://dx.doi.org/10.1016/j.clinbiochem.2015.06.013 0009-9120/© 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. Contents lists available at ScienceDirect Clinical Biochemistry journal homepage: www.elsevier.com/locate/clinbiochem Please cite this article as: de Melo SF, et al, Polymorphisms in FTO and TCF7L2 genes of Euro-Brazilian women with gestational diabetes, Clin Biochem (2015), http://dx.doi.org/10.1016/j.clinbiochem.2015.06.013