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Functional associations between the SNPs and the phenotypes.

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posted on 24.06.2014, 03:23 by Jinghui Yang, Jianwei Liu, Jing Liu, Wenyuan Li, Xiaoying Li, Yao He, Ling Ye

The figure depicted the biological functional associations between four SNPs and different traits of MetS. KCNQ1 (potassium voltage-gated channel KQT-like subfamily, member 1) is a gene encoding the poreforming subunit of a voltage-gated K+ channel (KvLQT1) that plays a key role for the repolarization of the cardiac action potential as well as water and salt transport in the beta cells. T allele variant might inhibit the KV-channels in beta cells and enhance glucose-stimulated insulin secretion, which leads to an increased risk of diabetes. ACE gene encoding the angiotensin (Ang) and transform Ang I into Ang II, and the activation of Ang IImight increase the storage of TG by influencing the glycolysis process and lead to the adipocyte hypertrophy. C allele variant of the INSIG2 gene was involved in the reversed cholesterol transport by an interaction with sterol regulatory element-binding proteins (SREBPs), which are transcription factors that activate the synthesis of cholesterol and fatty acids in the liver and other organs. In addition, A to C transition at nucleotide 1298 (A1298C, rs1801131) of the coding sequence in gene MTHFR, have been shown to be the most frequent genetic causes for mild hyperhomocysteinemia, and a high plasma concentration of homocysteine may predispose to atherosclerosis by injuring the vascular endothelium, which might result in hypertension.

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