en Genetics & Disease Genetics & Disease Original Article Original Article <p dir="ltr" style="text-align: justify;">Metabolic syndrome (MetS) is characterized by a cluster of cardiovascular risk factors that include: abdominal obesity, dyslipidaemia, hypertension, insulin resistance and impaired glucose tolerance. Recent genome wide association studies have identified several susceptibility regions involved in lipid metabolism that are also associated with MetS. We have explored the association of 9 genetic polymorphisms involved in lipid metabolism and hypertension, including: <em>MTHFR</em> C677T, <em>SELE</em> L554F,<em> FGB </em>- 455G>A,<em> GNB3</em> C825T<em>, ZNF259 C>G, PSRC-1 </em>A>G<em>, CETP </em>I405V<em>, LPL </em>S447X and<em> LPA</em> C>T in 97 subjects with mets and 96 individuals without MetS who were recruited randomly from Mashhad stroke and heart atherosclerotic disorder (MASHAD) study using a stratified cluster random sampling technique. Anthropometric parameters and biochemical measurements were determined in all the subjects. Genotyping was carried out followed by univariate and multivariate analyses. The subjects with MetS had a higher triglyceride and lower HDL- C. CG+ GG genotypes of <em>ZNF259 </em>polymorphism (rs964184 C>G) and TT+CT genotypes of <em>MTHFR</em> C677T (rs1801133) were associated with MetS, and individuals carrying the G allele for <em>ZNF259 </em>or the T allele for <em>MTHFR</em> polymorphisms were associated with MetS (e.g, odds ratio (OR) for CG+GG genotypes vs. CC wild type: 2.52, CI=1.33-4.77; P=0.005). However, after multiple comparison adsustments, this relationship remained significant only for CG+ GG genotypes of <em>ZNF259 </em>polymorphism. Moreover, the <em>ZNF259</em> CG+ GG genotypes were associated with increased serum concentrations of triglycerides and LDL-C, compared to the wild type. These data support the necessity of further studies in larger multicenter settings.</p> Metabolic syndrome, gene polymorphisms, lipid pathway 8 18 http://ijmcmed.org/browse.php?a_code=A-10-634-4&slc_lang=en&sid=1 Seyed Reza Mirhafez Mirhafezr@yahoo.com 10031947532846009369 10031947532846009369 No Department of Basic Medical Sciences, Neyshabur University of Medical Sciences, Neyshabur, Iran. Amir Avan amir_avan@yahoo.com 10031947532846009370 10031947532846009370 No Department of Modern Science and Technologies; and Biochemistry of Nutrition Research Center; School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Alireza Pasdar Pasdara@mums.ac.ir 10031947532846009371 10031947532846009371 No Division of Applied Medicine, Medical School, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK. Sara Khatamianfar monarch_371@yahoo.com 10031947532846009372 10031947532846009372 No Department of Modern Science and Technologies; and Biochemistry of Nutrition Research Center; School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Leila Hosseinzadeh monarch_367@yahoo.com 10031947532846009373 10031947532846009373 No Department of Modern Science and Technologies; and Biochemistry of Nutrition Research Center; School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Shiva Ganjali GanjaliSh931@mums.ac.ir 10031947532846009374 10031947532846009374 No Department of Modern Science and Technologies; and Biochemistry of Nutrition Research Center; School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Ali Movahedi 10031947532846009375 10031947532846009375 No Department of Basic Medical Sciences, Neyshabur University of Medical Sciences, Neyshabur, Iran. Maryam Pirhoushiaran 10031947532846009376 10031947532846009376 No VU University Medical Center, Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Valentina Gómez Mellado 10031947532846009377 10031947532846009377 No VU University Medical Center, Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Domenico Rosace 10031947532846009378 10031947532846009378 No University of Bologna, Bologna, Italy. Anne van Krieken 10031947532846009379 10031947532846009379 No Peter MacCallum Centre, St Andrew's Place, Melbourne, Australia. Mahdi Nohtani 10031947532846009380 10031947532846009380 No Department of Modern Science and Technologies; and Biochemistry of Nutrition Research Center; School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Gordon A. Ferns 10031947532846009381 10031947532846009381 No Brighton & Sussex Medical School, Division of Medical Education, Falmer, Brighton, Sussex BN1 9PH, UK. Majid Ghayour-Mobarhan 10031947532846009382 10031947532846009382 Yes Department of Modern Science and Technologies; and Biochemistry of Nutrition Research Center; School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.