ISSN 2415-3060 (print), ISSN 2522-4972 (online)
  • 23 of 61
JMBS 2018, 3(5): 115–119
Clinical Medicine

Analysis of rs997509-polymorphism of ENPP1 gene impact on some risk factors of type 2 diabetes

Marchenko I. V.

The study of the impact of various risk factors on the mechanisms of diabetes development is still one of the most pressing problems of modern medicine. This leads to the study of potential diabetes markers for early diagnosis of the development and progression of its complications, and in the long term, and new therapeutic options. The genetic polymorphism of ENPP1 – rs997509 can serve a hereditary factor for the development of type 2 diabetes (T2DM). The purpose of the study was to test the association between ENPP1 rs997509 polymorphism and T2DM development in patients with different risk factors in the Ukrainian population. Materials and methods. Venous blood of 317 patients with T2DM and 302 healthy volunteers was used for analysis. ENPP1 rs997509 genotyping was performed using PCR-RFLP (polymerase chain reaction with following restriction fragment length polymorphism analysis) method. Results and discussion. All the surveyed were divided into subgroups according to such factors as sex, smoking, and concomitant arterial hypertension. As a result of genotyping these subgroups of patients, we observed a significant difference in the ratio of homozygotes for the main allele (C/C) and carriers of the minor T-allele (C/T+T/T) for rs997509-polymorphism of the ENPP1 gene in patients with T2D and control group in women (P = 0.024) and subjects with hypertension (P = 0.013). It was shown that in the carriers of the minor T-allele the risk of development of T2D was significantly higher than that of the homozygote by the main allele in females (OR = 3.038; P = 0.031) and with concomitant hypertension (OR = 3.271; P = 0.018). Conclusions. The risk of developing T2DM is significantly higher in the carriers of the SNP rs997509 minor T allele of the ENPP1 gene, than that of the homozygote in the main C allele. The risk is significantly increased in females with concomitant hypertension.

Keywords: Type 2 diabetes, ENPP1 gene, gene polymorphism

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  1. Marchenko IV, Garbuzova YeA, Dubovyk YeI, Chumachenko YaD. Analiz asotsiatsiyi rs997509 polimorfizmu gena ENPP1 z tsukrovym diabetom 2-go typu u patsiyentiv z ozhyrinnyam. J Clin Exp Med Res. 2018; 6 (1): 170-75. [Ukrainian]
  2. Tkachenko VI, Vydyborets NV, Kovalenko OF. Analiz poshyrenosti ta zakhvoryuvanosti na tsukrovyy diabet i yogo uskladnennya sered naselennya Ukrayiny ta u Kyyivskiy oblasti za 2004-2013 rr. Zdobutky klinichnoyi i eksperymentalnoyi medytsyny. 2014; 2: 177-82. [Ukrainian]
  3. Bochenski J, Placha G, Wanic K, Malecki M, Sieradzki J, Warram JH, Krolewski AS. New polymorphism of ENPP1 (PC-1) is associated with increased risk of type 2 diabetes among obese individuals. Diabetes. 2006; 55 (9): 2626-30.
  4. Zheng Y, Ley SH, Hu FrB. Global aetiology and epidemiology of type 2 diabetes mellitus and its complications. Nature Reviews Endocrinology. 2017; 14 (2): 88-98.
  5. Erdem G, Dogru T, Tasci I, Sonmez A, Tapan S. Low plasma apelin levels in newly diagnosed type 2 diabetes mellitus. Exp Clin Endocrinol Diabetes. 2008; 116 (5): 289-92.
  6. Goldfine ID, Maddux BA, Youngren JF, Reaven G, Accili D, Trischitta V, Vigneri R, Frittitta L. The Role of Membrane Glycoprotein Plasma Cell Antigen 1/Ectonucleotide Pyrophosphatase Phosphodiesterase 1 in the Pathogenesis of Insulin Resistance and Related Abnormalities. Endocr Rev. 2008; 29 (1): 62–75.
  7. Omar A. Genetics of type 2 diabetes. World J Diabetes. 2013; 4 (4): 114-23.
  8. Santoro N, Cirillo G, Lepore MG, Palma A, Amato A, Savarese P, Marzuillo P, Grandone A, Perrone L, Del Giudice EM. Effect of the rs997509 polymorphism on the association between ENPP1, metabolic syndrome and impaired glucose tolerance in childhood obesity. J Clin Endocrinol Metab. 2009; 94 (1): 300-5.
  9. Sowers JR. Treatment of hypertension in patients with diabetes. Arch Intern Med. 2004; 164: 1850–7.
  10. Stamler J, Stamler R, Neaton JD. Blood pressure, systolic and diastolic, and cardiovascular risks: US population data. Arch Intern Med. 1993; 153: 598–615.
  11. Zhou D, Ruiter R, Zhang J, Zhou M, Liu H, Liu W, Wang S. Angiotensin-converting enzyme I/D polymorphism is not associated with type 2 diabetes in a Chinese population. J Renin Angiotensin Aldosterone Syst. 2012; 13 (3): 372-8.