Key result
The ENPP1 K121Q polymorphism was not significantly associated with acute coronary syndrome overall (OR 1.518), but the minor allele significantly increased the risk in the subgroup of patients with a normal body mass index (OR 3.939).
Why the study?
The association of the K121Q polymorphism of the ENPP1 gene with Acute Coronary Syndrome in the Ukrainian population and its dependence on gender and BMI was unclear.
Is the K121Q polymorphism of the ENPP1 gene associated with Acute Coronary Syndrome in the Ukrainian population?
Case-Control (n=228)
No
Is the K121Q polymorphism of the ENPP1 gene associated with Acute Coronary Syndrome in the Ukrainian population?
The K121Q polymorphism of the ENPP1 gene may be associated with ACS risk specifically in Ukrainian patients with normal body mass index.
Ectonucleotide Pyrophosphatase Phosphodiesterase 1 (ENPP1) is a class II membrane glycoprotein with two unrelated properties: It can hydrolyze extracellular nucleotides and downregulate insulin receptor signaling. The present study was carried out to investigate whether common single-nucleotide polymorphism K121Q (rs1044498) of the ENPP1 gene is associated with Acute Coronary Syndrome (ACS) in the representatives of Ukrainian population and to assess if the risk depends on gender and Body Mass Index (BMI). A total 228 DNA samples (118 ACS patients and 110 control subjects) were genotyped for the polymorphism by PCR and restriction fragment length polymorphism method. No associations between the K121Q polymorphisms and ACS were found neither on the whole nor taking into account the gender. However, in the persons with BMI
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Розуменко et al. (2014) conducted a case-control in Acute Coronary Syndrome (n=228). ENPP1 K121Q polymorphism (minor allele KQ+QQ) vs. Major allele homozygotes (KK) was evaluated on Acute Coronary Syndrome (OR 1.518, 95% CI 0.850-2.709, p=0.158). The ENPP1 K121Q polymorphism was not significantly associated with acute coronary syndrome overall (OR 1.518), but the minor allele significantly increased the risk in the subgroup of patients with a normal body mass index (OR 3.939).
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