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Endocrine Abstracts (2012) 29 P306

ICEECE2012 Poster Presentations Cardiovascular Endocrinology and Lipid Metabolism (74 abstracts)

Variants of endothelial nitric oxide synthase gene are associated with components of metabolic syndrome in an Arab population

K. Alkharfy 1 , N. Al-Daghri 1 , O. Al-Attas 1 , M. Alokail 1 , A. Mohammed 1 , B. Vinodson 1 , M. Clerici 2 , U. Kazmi 1 , T. Hussain 1 & H. Draz 1,


1King Saud University, Riyadh, Saudi Arabia; 2University of Milano, Milano, Italy; 3National Research Centre, Cairo, Egypt.


Genetics plays a crucial role in the development of metabolic syndrome (MetS). Here we examined the association between endothelial nitric oxide synthase (eNOS) gene polymorphisms and MetS in a Saudi Arabian cohort to extend the understanding of the genetic basis of MetS in diverse ethnic populations. Anthropometric, clinical and biochemical parameters as well as genotyping for 894G>T, −786T>C variants of eNOS gene by PCR–RFLP and 4a/b by direct PCR were performed in 886 Saudi Arabians (477 MetS and 409 Non-MetS). The genotype distribution (TT, P=0.001; TC, P=0.001; TC+CC, P=0.001) and allele (T, P=0.007; C, P=0.007) frequency of the −786T>C SNP were significantly different between Non-MetS and MetS subjects which remained significant after Bonferroni correction. Moreover: i) the GT and GT+TT genotypes of the 894G>T SNP were associated with elevated blood pressure (P=0.017, and P=0.022 respectively); ii) the ab variant of 4a/b polymorphism was associated with decreased HDL levels (P=0.044); and iii) the TC+CC genotype and C allele of the −786T>C SNP were associated with increased fasting glucose levels (P=0.039, and P=0.028 respectively). Also, G-a-C was identified as the risk haplotype for MetS susceptibility (P=0.034). The result suggest a significant association of 894G>T, 4a/b and −786T>C polymorphisms with MetS and its components is present in an Arab population. A genetic predisposition to develop abnormal metabolic phenotypes, consistent with an increased prevalence of metabolic phenotypes can be detected in this ethnic group.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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