Polymorphism of the adiponutrin gene (PNPLA3) in the indigenous inhabitants of the Republic of Sakha (Yakutia) with type 2 diabetes mellitus

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Abstract

Rationale: The association of rs738409 I148M polymorphism with type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease has been confirmed for several ethnic and territorial groups. Up to now, no such studies have been performed in the populations of Yakutia.

Aim: To study allele frequency distribution and to identify associations of the PNPLA3 gene polymorphism (rs738409 C>G) with T2DM in the Yakuts.

Materials and methods: DNA samples from 106 T2DM patients were used in the study; the control group included samples from 72 healthy volunteers. All study participants were ethnic Yakuts and were living in the territory of the Republic of Sakha (Yakutia), Russian Federation. rs738409 polymorphism of the PNPLA3 gene was studied by polymerase chain reaction and by restriction fragment length polymorphism.

Results: There were no significant difference in the distribution of the allele frequencies and genotypes of the polymorphous variant of the PNPLA3 gene (rs738409) between the T2DM patients and the healthy control. Both groups showed prevailing allele G (р = 0.01) and homozygous genotype GG (96%).

Conclusion: High frequency of the allele G (74.1%) with predominance of GG genotype (58.5%) was found in type 2 diabetic patients.

About the authors

Kh. A. Kurtanov

Yakut Science Center of Complex Medical Problems

Author for correspondence.
Email: hariton_kurtanov@mail.ru

Khariton A. Kurtanov – MD, PhD, Head of the Department of Molecular Genetics.

32–66 Petrovskogo ul., Yakutsk, 677027, Republic of Sakha (Yakutia), Tel.: +7 (914) 106 00 30

Russian Federation

L. A. Sydykova

M.K. Ammosov North-Eastern Federal University

Email: fake@neicon.ru

Lyubov A. Sydykova – MD, PhD, Head of the Chair of Propaedeutic and Faculty Therapy with Endocrinology and Physical Therapy, Medical Institut.

58 Belinskogo ul., Yakutsk, 677000, Republic of Sakha (Yakutia)

Russian Federation

N. I. Pavlova

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Nadezhda I. Pavlova – PhD (in Biology), Head of the Laboratory of Heritable Pathology.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

N. P. Filippova

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Natal'ya P. Filippova – PhD (in Biology), Associate Professor, Senior Research Fellow, Laboratory of Population Genetics.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

V. V. Dodokhov

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Vladimir V. Dodokhov – PhD (in Biology), Research Fellow, Laboratory of Population Genetics.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

G. A. Apsolikhova

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Galina A. Apsolikhova – Junior Research Fellow, Laboratory of Heritable Pathology.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

N. A. Solov'eva

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Natal'ya A. Solov'eva – MD, PhD, Head of the Laboratory of Population Genetics.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

A. T. D'yakonova

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Aleksandra T. D'yakonova – Junior Research Fellow, Laboratory of Heritable Pathology.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

L. M. Neustroeva

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Lena M. Neustroeva – Junior Research Fellow, Laboratory of Population Genetics.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

M. A. Varlamova

Yakut Science Center of Complex Medical Problems

Email: fake@neicon.ru

Marina A. Varlamova – Junior Research Fellow, Laboratory of Heritable Pathology.

4 Sergelyakhskoe shosse, Yakutsk, 677010, Republic of Sakha (Yakutia)

Russian Federation

N. V. Borisova

M.K. Ammosov North-Eastern Federal University

Email: fake@neicon.ru

Natal'ya V. Borisova – MD, PhD, Professor, Chair of Physiology, Medical Institut.

58 Belinskogo ul., Yakutsk, 677000, Republic of Sakha (Yakutia)

Russian Federation

References

  1. Дедов ИИ, Шестакова МВ, Викулова ОК. Эпидемиология сахарного диабета в Российской Федерации: клинико-статистический анализ по данным Федерального регистра сахарного диабета. Сахарный диабет. 2017;20(1): 13–41. doi: 10.14341/DM8664.
  2. Бирюкова ЕВ, Родионова СВ. Сахарный диабет 2-го типа и неалкогольная жировая болезнь печени – болезни современности. Медицинский альманах. 2017;6(51): 130–5.
  3. Европейская ассоциация по изучению болезней печени; Европейская ассоциация по изучению диабета; Европейская ассоциация по изучению ожирения. Клинические рекомендации EASL–EASD–EASO по диагностике и лечению неалкогольной жировой болезни печени. J Hepatol. 2016;64(6): 1388–402 [Электронный ресурс]. Доступно на: http://www.easl.eu/medias/cpg/pdf_files/NAFLD_RU.pdf.
  4. Мохорт ТВ. Неалкогольная жировая болезнь печени и сахарный диабет: аспекты патогенеза, диагностики и лечения. Медицинские новости. 2012;(4): 4–10.
  5. Каримов ММ, Далимова ДА, Собирова ГН, Саатов ЗЗ, Хамдамова ШЖ. Исследование ассоциации полиморфизма гена PNPLA3 c неалкогольной жировой болезнью печени в узбекской популяции. Евразийский журнал внутренней медицины. 2015;2(2): 25–7.
  6. Петунина НА, Тельнова МЭ. Неалкогольная жировая болезнь печени при сахарном диабете 2-го типа. Медицинский совет. 2016;(4): 92–5.
  7. Dongiovanni P, Donati B, Fares R, Lombardi R, Mancina RM, Romeo S, Valenti L. PNPLA3 I148M polymorphism and progressive liver disease. World J Gastroenterol. 2013;19(41): 6969–78. doi: 10.3748/wjg.v19.i41.6969.
  8. Hotta K, Yoneda M, Hyogo H, Ochi H, Mizusawa S, Ueno T, Chayama K, Nakajima A, Nakao K, Sekine A. Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoholic fatty liver disease. BMC Med Genet. 2010;11:172. doi: 10.1186/1471-2350-11-172.
  9. Valenti L, Al-Serri A, Daly AK, Galmozzi E, Rametta R, Dongiovanni P, Nobili V, Mozzi E, Roviaro G, Vanni E, Bugianesi E, Maggioni M, Fracanzani AL, Fargion S, Day CP. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology. 2010;51(4): 1209–17. doi: 10.1002/hep.23622.
  10. Гоголев АИ. История Якутии. Якутск: Изд-во ЯГУ; 2000. 201 с.
  11. Пузырев ВП, Томский МИ. Генетическое исследование населения Якутии. Якутск; 2014. 336 с.
  12. Ueyama M, Nishida N, Korenaga M, Korenaga K, Kumagai E, Yanai H, Adachi H, Katsuyama H, Moriyama S, Hamasaki H, Sako A, Sugiyama M, Aoki Y, Imamura M, Murata K, Masaki N, Kawaguchi T, Torimura T, Hyogo H, Aikata H, Ito K, Sumida Y, Kanazawa A, Watada H, Okamoto K, Honda K, Kon K, Kanto T, Mizokami M, Watanabe S. The impact of PNPLA3 and JAZF1 on hepatocellular carcinoma in non-viral hepatitis patients with type 2 diabetes mellitus. J Gastroenterol. 2016;51(4): 370–9. doi: 10.1007/s00535-015-1116-6.
  13. Kan H, Hyogo H, Ochi H, Hotta K, Fukuhara T, Kobayashi T, Naeshiro N, Honda Y, Kawaoka T, Tsuge M, Hiramatsu A, Imamura M, Kawakami Y, Aikata H, Chayama K. Influence of the rs738409 polymorphism in patatin-like phospholipase 3 on the treatment efficacy of non-alcoholic fatty liver disease with type 2 diabetes mellitus. Hepatol Res. 2016;46(3):E146– 53. doi: 10.1111/hepr.12552.
  14. Petit JM, Guiu B, Masson D, Duvillard L, Jooste V, Buffier P, Terriat B, Bouillet B, Brindisi MC, Loffroy R, Robin I, Hillon P, Cercueil JP, Verges B. Specifically PNPLA3-mediated accumulation of liver fat in obese patients with type 2 diabetes. J Clin Endocrinol Metab. 2010;95(12):E430– 6. doi: 10.1210/jc.2010-0814.
  15. Cox AJ, Wing MR, Carr JJ, Hightower RC, Smith SC, Xu J, Wagenknecht LE, Bowden DW, Freedman BI. Association of PNPLA3 SNP rs738409 with liver density in African Americans with type 2 diabetes mellitus. Diabetes Metab. 2011;37(5): 452–5. doi: 10.1016/j.diabet.2011.05.001.
  16. Шаронова ЛА, Вербовой АФ, Вербовая НИ, Пашенцева АВ. Взаимосвязь неалкогольной жировой болезни печени и сахарного диабета 2-го типа. Русский медицинский журнал. 2017;25(22): 1635–40.

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Copyright (c) 2018 Kurtanov K.A., Sydykova L.A., Pavlova N.I., Filippova N.P., Dodokhov V.V., Apsolikhova G.A., Solov'eva N.A., D'yakonova A.T., Neustroeva L.M., Varlamova M.A., Borisova N.V.

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