Changes of the echocardiographic parameters in chronic heart failure patients with Ile337val, Glu23lys, and Ser1369ala polymorphisms of genes encoding the ATP-sensitive potassium channels subunits in the Ukrainian population

Ann Hum Genet. 2018 Sep;82(5):272-279. doi: 10.1111/ahg.12250. Epub 2018 Jul 13.

Abstract

Different allelic variants of genes that encode ATP-sensitive potassium (KATP ) channels' subunits may contribute to the development of heart failure. The purpose of the work to investigate SNPs in genes that encode KATP channels in relation to echocardiographic parameters in chronic heart failure (CHF) patients. Ninety-nine people with CHF of ischemic origin with left ventricular systolic dysfunction were examined. The control group is represented by 108 clinically healthy subjects. KCNJ11 polymorphisms Ile337Val and Glu23Lys, and ABCC8 polymorphism Ser1369Ala were genotyped using polymerase chain reaction. In CHF patients, the frequency of the Ile337Val genotype was: Ile/Ile, 40.4%; Ile/Val, 45.5%; and Val/Val, 14.1%. The patients with the Val/Val genotype had left ventricular (LV) mass that was 334.15 g, which was 27.3% (P < 0.05) lower versus Ile/Val patients (425.48 g). The index of this parameter was also significantly lower (28.4%, P < 0.05). In CHF patients, the frequency of Glu23Lys and Ser1369Ala was: Glu/Glu and Ser/Ser, 43.4%; heterozygote, 44.4%; Lys/Lys and Ala/Ala, 12.2%. The patients with the Lys/Lys and Ala/Ala genotypes had a significantly lower LV mass index and LV end-diastolic volume (22.9% and 26.8%, P < 0.05) versus heterozygotes. Thus, the greatest LV mass and LV end-diastolic volume values are associated with heterozygotes, while the smallest are associated with minor homozygotes.

Keywords: Chronic heart failure; echocardiography; rs5215; rs5219; rs757110.

MeSH terms

  • Aged
  • Alleles
  • Case-Control Studies
  • Echocardiography*
  • Female
  • Gene Frequency
  • Genotype
  • Heart Failure / diagnosis
  • Heart Failure / genetics*
  • Humans
  • Male
  • Middle Aged
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Sulfonylurea Receptors / genetics*
  • Ukraine
  • Ventricular Dysfunction, Left / genetics

Substances

  • ABCC8 protein, human
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Receptors