Long-term gene-environment interactions and genetics of metabolic disorders in aboriginal populations of Northeast Asia

Cover Page

Cite item

Full Text

Abstract

A review of features of polymorphism of lipid and carbohydrate metabolism genes in aboriginal populations of Siberia is presented. The most significant genetic changes in aboriginal populations of Northeast Asia (Eskimos, Chukchi and Koryaks) are described, related to long-term adaptation to extreme conditions of the natural environment and dietary characteristics. Part of the genetic variability of aboriginal populations of this region is represented by polymorphisms associated with metabolic disorders (deficiency of carnitine palmitoyltransferase 1A, pancreatic amylase, sucrase-isomaltase, trehalase) caused by the change of the traditional protein-lipid diet to “European” carbohydrate one. In modern conditions, it is extremely important to perform large-scale genetic testing of aboriginal populations of the Far North.

About the authors

Boris A. Malyarchuk

Institute of Biological Problems of the North, Far Eastern Branch of Russian Academy of Sciences

Author for correspondence.
Email: malyarchuk@ibpn.ru
ORCID iD: 0000-0002-0304-0652

PhD, ScD, Head, Genetics Laboratory

Russian Federation, 18, Portovaya street, Magadan, 685000

References

  1. Панин Л.Е. Энергетические аспекты адаптации. – Л.: Медицина, 1978. [Panin LE. Energe¬ticheskie aspekty adaptatsii. Leningrad: Meditsina; 1978. (In Russ.)]
  2. Cardona A, Pagani L, Antao T, et al. Genome-wide analysis of cold adaptation in indigenous Siberian populations. PLoS One. 2014;9(5):e98076. doi: 10.1371/journal.pone.0098076.
  3. Clemente FJ, Cardona A, Inchley CE, et al. A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations. Am J Hum Genet. 2014;95(5):584-589. doi: 10.1016/j.ajhg.2014.09.016.
  4. Fumagalli M, Moltke I, Grarup N, et al. Greenlandic Inuit show genetic signatures of diet and climate adaptation. Science. 2015;349(6254):1343-1347. doi: 10.1126/science.aab2319.
  5. Inchley CE, Larbey CD, Shwan NA, et al. Selective sweep on human amylase genes postdates the split with Neanderthals. Sci Rep. 2016;6:37198. doi: 10.1038/srep37198.
  6. Малярчук Б.А., Деренко М.В., Денисова Г.А., Литвинов А.Н. Распространенность арктического варианта гена CPT1A в популяциях коренного населения Сибири // Вавиловский журнал генетики и селекции. – 2016. – Т. 20. – № 5. – С. 571–575. [Malyarchuk BA, Derenko MV, Denisova GA, Litvinov AN. Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia. Vavilovskii zhurnal genetiki i selektsii. 2016;20(5):571-575. (In Russ.)] doi: 10.18699/VJ16.130.
  7. Малярчук Б.А., Деренко М.В., Денисова Г.А. Частота неактивного варианта сахаразы-изомальтазы у коренного населения Северо-Восточной Азии // Генетика. – 2017. – Т. 53. – № 9. – С. 1109–1111. [Malyarchuk BA, Derenko MV, Denisova GA. The frequency of inactive sucrase-isomaltase variant in indigenous populations of Northeast Asia. Russian journal of genetics. 2017;53(9):1052-1054. (In Russ.)] doi: 10.7868/S0016675817090090.
  8. Малярчук Б.А., Деренко М.В. Полиморфизм гена трегалазы (TREH) у коренного населения Сибири // Вавиловский журнал генетики и селекции. – 2017. – Т. 21. – № 8. – С. 964–968. [Malyarchuk BA, Derenko MV. Polymorphism of the trehalase gene (TREH) in native populations of Siberia. Vavilovskii zhurnal genetiki i selektsii. 2017;21(8):964-968. (In Russ.)] doi: 10.18699/VJ17.320.
  9. Pedersen CT, Lohmueller KE, Grarup N, et al. The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit. Genetics. 2017;205(2): 787-801. doi: 10.1534/genetics.116.193821.
  10. Greenberg CR, Dilling LA, Thompson GR, et al. The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol Genet Metab. 2009;96(4):201-207. doi: 10.1016/j.ymgme.2008.12.018.
  11. Rajakumar C, Ban MR, Cao H, et al. Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I. J Lipid Res. 2009;50(6):1223-8. doi: 10.1194/jlr.P900001-JLR200.
  12. Lemas DJ, Wiener HW, O’Brien DM, et al. Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup’ik Eskimos. J Lipid Res. 2012;53(1):175-184. doi: 10.1194/jlr.P018952.
  13. Терещенко С.Ю., Смольникова М.В., Горбачева Н.Н., Шубина М.В. Наследуемый дефицит карнитин пальмитоилтрансферазы 1А типа как один из вариантов митохондриальных болезней с нарушением бета-окисления жирных кислот: диагностика и терапевтическая тактика // Международный журнал прикладных и фундаментальных исследований. – 2014. – № 11. – С. 847–854. [Tereshchenko SY, Smolnikova MV, Gorbacheva NN, Shubina MV. Inhe¬rited deficiency of carnitine palmitoyltransferase 1a, as one of the variants of mitochondrial fatty-acid oxidation disorders with impaired fatty acids beta oxidation: diagnosis and therapeutic tactics. International journal of applied and fundamental research. 2014;(11): 847-854. (In Russ.)]
  14. Козлов А.И., Нувано В., Здор Э. Диета Чукотки // Химия и жизнь. – 2008. – № 4. – С. 42–45. [Koz¬lov AI, Nuvano V, Zdor E. Dieta Chukotki. Khimiya i zhizn’. 2008;(4):42-45. (In Russ.)]
  15. Gessner BD, Gillingham MB, Johnson MA, et al. Prevalence and distribution of the c.1436C-->T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants. J Pediatr. 2011;158(1):124-129. doi: 10.1016/j.jpeds.2010.07.031.
  16. Raghavan M, Skoglund P, Graf KE, et al. Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans. Nature. 2014;505(7481):87-91. doi: 10.1038/nature12736.
  17. Rasmussen M, Anzick SL, Waters MR, et al. The genome of a Late Pleistocene human from a Clovis burial site in western Montana. Nature. 2014;506(7487):225-9. doi: 10.1038/nature13025.
  18. Rasmussen M, Li Y, Lindgreen S, et al. Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature. 2010;463(7282):757-762. doi: 10.1038/nature08835.
  19. Smolnikova MV, Tereshchenko SY, Freidin MB. The “Arctic Variant” specific mutation P479L in CPT1A gene predisposing to carnitine palmitoyltransferase-1A deficiency in two Russian far north aboriginal populations: A retrospective genotyping of newborn screening cards. Mol Genet Metab. 2015;114(3):341.
  20. Li Q, Dong K, Xu L, et al. The distribution of three candidate cold-resistant SNPs in six minorities in North China. BMC Genomics. 2018;19(1):134. doi: 10.1186/s12864-018-4524-1.
  21. Гурвич И.С., Симченко Ю.Б. Этногенез юкагиров // Этногенез народов Севера / Под ред. И.С. Гурвича. – М.: Наука, 1980. – С. 141–151. [Gurvich IS, Simchenko YB. Etnogenez yukagirov. In: Etnogenez narodov Severa. Ed by I.S. Gurvich. Moscow: Nauka; 1980. P. 141-145. (In Russ.)]
  22. Befu H, Chard CS. A Prehistoric Maritime Culture of the Okhotsk Sea. Am Antiq. 2017;30(01):1-18. doi: 10.2307/277625.
  23. Лебединцев А.И. Древние приморские культуры Северо-Западного Приохотья. – Л.: Наука, 1990. [Lebedintsev AI. Drevnie primorskie kul’tury Severo-Zapadnogo Priokhot’ya. Leningrad: Nauka; 1990. (In Russ.)]
  24. Бурыкин А.А. Следы культуры эскимосов на Охотском побережье // Системные исследования взаимосвязи дpевних культур Сибири и Северной Америки / Под ред. Е.А. Окладниковой. – СПб., 1996. – Вып. 4. – С. 48–59. [Burykin AA. Sledy kul’tury eskimosov na Okhotskom poberezh’e. In: Sistemnye issledovaniya vzaimosvyazi drevnikh kul’tur Sibiri i Severnoy Ameriki. Ed by E.A. Okladnikova. Saint Petersburg; 1996. Vol 4. P. 48-59. (In Russ.)]
  25. Головнев А.В. Антропология движения (древности Северной Евразии). – Екатеринбург: УрО РАН; Волот, 2009. [Golovnev AV. Antropologiya dvizheniya (drevnosti Severnoy Evrazii). Ekaterinburg: UrO RAN; Volot; 2009. (In Russ.)]
  26. Moltke I, Grarup N, Jorgensen ME, et al. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature. 2014;512(7513):190-193. doi: 10.1038/nature13425.
  27. Fumagalli M, Moltke I, Grarup N, et al. Greenlandic Inuit show genetic signatures of diet and climate adaptation. Science. 2015;349(6254):1343-1347. doi: 10.1126/science.aab2319.
  28. Marcadier JL, Boland M, Scott CR, et al. Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. CMAJ. 2015;187(2):102-7. doi: 10.1503/cmaj.140657.
  29. Kozlov A, Vershubsky G, Borinskaya S, et al. Activity of Disaccharidases in Arctic Populations: Evolutionary Aspects Disaccharidases in Arctic Populations. J Physiol Anthropol Appl Human Sci. 2005;24(4):473-6. doi: 10.2114/jpa.24.473.
  30. Naylor JL, Schraer CD, Mayer AM, et al. Diabetes among Alaska Natives: a review. Int J Circumpolar Health. 2016;62(4):363-387. doi: 10.3402/ijch.v62i4.17581.
  31. Arbour L, Asuri S, Whittome B, et al. The Genetics of Cardiovascular Disease in Canadian and International Aboriginal Populations. Can J Cardiol. 2015;31(9):1094-1115. doi: 10.1016/j.cjca.2015. 07.005.
  32. Козлов А.И., Козлова М.А., Вершубская Г.Г., Шилов А.Б. Здоровье коренного населения Севера РФ: на грани веков и культур. – Пермь: ОТ и ДО, 2013. [Kozlov AI, Kozlova MA, Vershubskaya GG, Shilov AB. Zdorov’e korennogo naseleniya Severa RF: na grani vekov I kul’tur. Perm’: OT i DO; 2013. (In Russ.)]

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2018 Malyarchuk B.A.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies