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<p>Hepatic steatosis is now found in a&#xa0;relevant proportion of the general population in Western countries and is attributed to the influence of diet and sedentary lifestyles. Genetic studies have shown that the PNPLA3 (also known as adiponutrin) polymorphism p.I148M is associated with an increased risk of developing and progressing hepatic steatosis. The minor allele frequency of this variant in the general population worldwide ranges from 8% in Africa to 72% in Central and South America. The unequal distribution and astonishing frequency of this physiologically unfavorable gene variant under modern living conditions raises the obvious question of an evolutionary adaptation to certain living conditions during human history. Archaeogenetic data show that Neanderthals and Denisovans, who lived 40,000–65,000 years ago, exclusively carried the risk allele, suggesting that the variant allele was fixed in their common ancestors and that this variant emerged before the separation of human developmental lineages. In the currently available archaeogenetic dataset, there is no significant evidence of genetic selection over a&#xa0;time window of the last 15,000 years, which does not rule out earlier selection. The astonishing frequency of this steatosis-promoting gene variant in modern humans today may be explained by potential advantages under the living conditions of the Ice Age. The recommended baseline therapy of lifestyle intervention with calorie-restricted diet and exercise corrects the unfavorable consequences of these gene variants in steatotic liver disease (SLD).</p>

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Evolutionäre Aspekte der mit metabolischer Dysfunktion assoziierten steatotischen Lebererkrankung (MASLD)

  • 期刊论文

  • 发表日期：

    2025年3月4日

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  • Andreas Geier,
  • Stephan Schiffels,
  • Marcin Krawczyk

摘要

Hepatic steatosis is now found in a relevant proportion of the general population in Western countries and is attributed to the influence of diet and sedentary lifestyles. Genetic studies have shown that the PNPLA3 (also known as adiponutrin) polymorphism p.I148M is associated with an increased risk of developing and progressing hepatic steatosis. The minor allele frequency of this variant in the general population worldwide ranges from 8% in Africa to 72% in Central and South America. The unequal distribution and astonishing frequency of this physiologically unfavorable gene variant under modern living conditions raises the obvious question of an evolutionary adaptation to certain living conditions during human history. Archaeogenetic data show that Neanderthals and Denisovans, who lived 40,000–65,000 years ago, exclusively carried the risk allele, suggesting that the variant allele was fixed in their common ancestors and that this variant emerged before the separation of human developmental lineages. In the currently available archaeogenetic dataset, there is no significant evidence of genetic selection over a time window of the last 15,000 years, which does not rule out earlier selection. The astonishing frequency of this steatosis-promoting gene variant in modern humans today may be explained by potential advantages under the living conditions of the Ice Age. The recommended baseline therapy of lifestyle intervention with calorie-restricted diet and exercise corrects the unfavorable consequences of these gene variants in steatotic liver disease (SLD).